Cases for PACES, 2nd edition

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Cases for PACES Second Edition Stephen Hoole MA, MRCP Andrew Fry MA, MRCP Daniel Hodson MA, MRCP, FRCPath Rachel Davies MA, MRCP Specialist Registrars Cambridge University Hospitals Addenbrooke’s Hospital Cambridge UK

A John Wiley & Sons, Ltd., Publication

Cases for PACES Second Edition

Cases for PACES Second Edition Stephen Hoole MA, MRCP Andrew Fry MA, MRCP Daniel Hodson MA, MRCP, FRCPath Rachel Davies MA, MRCP Specialist Registrars Cambridge University Hospitals Addenbrooke’s Hospital Cambridge UK

A John Wiley & Sons, Ltd., Publication

This edition first published 2010 C 2010 by Stephen Hoole, Andrew Fry, Daniel Hodson & Rachel Davies Previous editions published 2003 Blackwell Publishing was acquired by John Wiley & Sons in February 2007. Blackwell’s publishing programme has been merged with Wiley’s global Scientific, Technical, and Medical business to form Wiley-Blackwell. Registered office John Wiley & Sons Ltd, The Atrium, Southern Gate, Chichester, West Sussex, PO19 8SQ, United Kingdom Editorial offices 9600 Garsington Road, Oxford, OX4 2DQ, United Kingdom 350 Main Street, Malden, MA 02148-5020, USA For details of our global editorial offices, for customer services and for information about how to apply for permission to reuse the copyright material in this book please see our website at www.wiley.com/wiley-blackwell. The right of the author to be identified as the author of this work has been asserted in accordance with the UK Copyright, Designs and Patents Act 1988. All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, electronic, mechanical, photocopying, recording or otherwise, except as permitted by the UK Copyright, Designs and Patents Act 1988, without the prior permission of the publisher. Wiley also publishes its books in a variety of electronic formats. Some content that appears in print may not be available in electronic books. Designations used by companies to distinguish their products are often claimed as trademarks. All brand names and product names used in this book are trade names, service marks, trademarks or registered trademarks of their respective owners. The publisher is not associated with any product or vendor mentioned in this book. This publication is designed to provide accurate and authoritative information in regard to the subject matter covered. It is sold on the understanding that the publisher is not engaged in rendering professional services. If professional advice or other expert assistance is required, the services of a competent professional should be sought. Library of Congress Cataloging-in-Publication Data Cases for PACES / Stephen Hoole ... [et al.]. – 2nd ed. p. ; cm. Rev. ed. of: Cases for PACES / Stephen Hoole, Andrew Fry, Daniel Hodson. 2003. Includes index. ISBN 978-1-4051-9948-3 1. Diagnosis–Case studies. 2. Physicians–Licenses–Great Britain–Examinations–Study guides. I. Hoole, Stephen. II. Hoole, Stephen. Cases for PACES. [DNLM: 1. Physical Examination–Examination Questions. 2. Ethics, Clinical–Examination Questions. WB 18.2 C338 2010] RC66.H646 2010 616.07 5–dc22 2009046378 ISBN: 9781405199483 A catalogue record for this book is available from the British Library. Set in 9/12pt Frutiger Light by AptaraR Inc., New Delhi, India Printed in Singapore 1

2010

Contents

Foreword, vi Preface, vii Acknowledgements, ix Abbreviations, x Station 1: Abdominal and Respiratory, 1 Station 2: History Taking, 34 Station 3: Cardiology and Neurology, 59 Station 4: Ethics, Law and Communication Skills, 106 Station 5: Brief Clinical Consultations, 125 Short Cases: Skin, Musculoskeletal, Eyes and Endocrine, 141 Appendix: Useful addresses, 195 Index, 197

Foreword

Amidst the turmoil of recent ‘modernization’ of medical careers, the fundamental essentials of the practice of clinical medicine have not changed at all. The doctor needs to be able to take a history from a patient, examine them and decide whether investigations and/or treatment are required. They then need to be able to discuss the various options with the patient in a manner that they can understand, hopefully reaching a sensible mutual understanding about how best to proceed. In some instances the doctor may need to give difficult and distressing information, and must learn how to do this in a manner that eases the pain rather than increases it. And all of these things must be done in a reasonable time frame: the next patient is waiting. The MRCP PACES examination remains the measure that is most generally respected as indicating that a doctor has developed a fair degree of the knowledge, skills and behaviours that are necessary to do the things detailed above. They are not yet the finished article (beware of anyone who thinks they are), but they can proceed from a junior to a senior stage of training. The examination is not easy, with a pass rate of around 40%. Those preparing for it need to immerse themselves in clinical work. There is no substitute for seeing a lot of cases and taking histories and performing examinations, but – and here is where books such as Cases for PACES come in – it is not helpful to endlessly repeat sloppy practice. The physician examining you in the PACES examination is thinking: ‘Is this doctor ready to be my SpR now? Can they sort things out in a reasonably efficient and sensible way? Would I get a lot of people wanting to see me because problems had been poorly explained or dealt with?’ What comes over in Cases for PACES is an approach that does sort the wood from the trees, which cuts pretty rapidly to the chase, and I recommend it to you. If you do what it says on the tin, you will stand a very good chance of passing the examination. Dr John Firth Consultant Physician, Addenbrooke’s Hospital, Cambridge

Preface

PACES (Practical Assessment of Clinical Examination Skills) was initiated in June 2001 by the Royal College of Physicians as the final stage of the MRCP examination. The initial examination consisted of five stations in a carousel: Station 1: Respiratory/Abdominal (10 minutes each), Station 2: History Taking (20 minutes), Station 3: Cardiology/Neurology (10 minutes each), Station 4: Communication Skills and Ethics (20 minutes) and Station 5: Short Cases (Skin, Locomotor, Eyes and Endocrine: 5 minutes each). The main changes from the original MRCP long and short case format were that candidates had to take a history and communicate medical diagnoses to lay patients in front of their examiners. The viva was replaced by ‘discussions’ that occurred at the end of each case, which concentrated on management issues relating to the case. PACES was refined in October 2009 by restructuring Station 5. There are now two 10-minute ‘Brief Clinical Consultations’ that reflect day-to-day practice at work rather than the four 5-minute cases. Candidates will be expected to take a targeted history and a focused rather than thorough examination each lasting 8 minutes with the remaining time for discussion. The cases previously encountered in Station 5 will be accommodated within the other stations and candidates must still prepare to examine these systems. New topics to Station 5 will include acute and geriatric medicine, previously underrepresented in the PACES examination. Cases for PACES 2nd Edition prepares candidates for the updated PACES examination. It mimics the examination format, and is designed for use in an interactive way. The 2nd Edition is a completely revised text, incorporating the changes to Station 5, as well as new cases. It has useful information on ethical and legal issues, history-taking advice and worked examples. It also provides mock questions for candidates to practise themselves. The short cases that appeared in the original Station 5 remain as an appendix, but Station 5 now contains new Brief Clinical Consultations including worked examples in acute and geriatric medicine. However, seeing medical patients on a busy receiving unit or outpatient department must be the best way to prepare for this new station! Common cases rather than rarities have been deliberately chosen and are set out in an examination format. It is taken as read that candidates will be familiar in examination techniques and the appropriate order in which

viii

Preface

to elicit the various signs. In the book, only the key diagnostic clinical signs are documented, followed by extra points that will ensure you score high marks in the case. What follows in the discussion are some of the potential topics that a candidate could be expected to comment on at the end of the case. Examiners are specifically monitoring for knowledge of the differential diagnosis and organized clinical judgement, whilst managing the patients’ concerns and maintaining patient welfare. The detail is not exhaustive but rather what is reasonably needed to pass. There is additional room for candidates to make further notes as they see fit. This book is designed to enable groups of candidates to practise ‘under examination conditions’ at the bedside. The aim of this book is to put the information that is frequently tested in the clinical PACES examination in a succinct format that will enable capable candidates to pass with ease. Good luck. Stephen Hoole Andrew Fry Daniel Hodson Rachel Davies

Acknowledgements

We thank the doctors who taught us for our own PACES examination, and above all the patients who allow us to refine our examination techniques and teach the next generation of MRCP PACES candidates.

Abbreviations

ABG ACE ACTH AF AFP AICD ANA AR ARVD 5-ASA ASD AVR BIPAP BM BMI CABG CAPD CCF CFA CFTR

CK CML

Arterial blood gas Angiotensin-converting enzyme Adrenocorticotrophic hormone Atrial fibrillation Alpha-fetoprotein Automated implantable cardiac defibrillator Anti-nuclear antibody Aortic regurgitation arrhythmogenic right ventricular dysplasia 5-Aminosalicylic acid Atrial septal defect Aortic valve replacement Bi-level positive airway pressure Bohereinger Manheim (glucose) Body mass index Coronary artery bypass graft Continuous ambulatory peritoneal dialysis Congestive cardiac failure Cryptogenic fibrosing alveolitis Cystic fibrosis transmembrane conductance regulator Creatine kinase Chronic myeloid leukaemia

CMV COPD COMT CRP CSF CVA CXR DIPJ DM DVLA DVT eGFR EBV ECG EMG ESR FBC FEV1 FTA FVC GH Hb HBV HCG HCV HGV

Cytomegalovirus Chronic obstructive pulmonary disease Catechol-o-methyl transferase C-reactive protein Cerebrospinal fluid Cerebrovascular accident Chest X-ray (radiograph) Distal interphalangeal joint Diabetes mellitus Driver and Vehicle Licensing Agency Deep vein thrombosis Estimated glomerular filtration rate Epstein–Barr virus Electrocardiogram Electromyogram Erythrocyte sedimentation rate Full blood count Forced expiratory volume in 1 second Fluorescent treponema antibodies Forced vital capacity Growth hormone Haemoglobin Hepatitis B virus Human chorionic gonadotrophin Hepatitis C virus Heavy goods vehicle

Abbreviations xi

HLA HOCM HRT HSMN HSV IBD IDDM IGF INR ITP

IV JVP KCO LAD LDH LFT LMWH LQTS LV LVH mAb MAO MI MND MPTP MR MRI

Human lymphocyte antigen Hypertrophic obstructive cardiomyopathy Hormone replacement therapy Hereditary sensory motor neuropathy Herpes simplex virus Inflammatory bowel disease Insulin-dependent diabetes mellitus Insulin-like growth factor International normalized ratio Immune thrombocytopaenic purpura Intravenous Jugular venous pressure Transfer coefficient Left axis deviation Lactate dehydrogenase Liver function test Low molecular weight heparin Long QT syndrome Left ventricle Left ventricular hypertrophy Monoclonal antibody Monoamine oxidase Myocardial infarction Motor neurone disease Methyl-phenyltetrahydropyridine Mitral regurgitation Magnetic resonance imaging

Metacarpophalangeal joint MTPJ Metatarsophalangeal joint MVR Mitral valve replacement NIPPV Non-invasive positive pressure ventilation NSAIDs Non-steroidal anti-inflammatory drugs NSCLC Non-small cell lung cancer OA Osteoarthritis Partial pressure (arterial) Pa PBC Primary biliary cirrhosis PCT Primary Care Trust PEG Percutaneous endoscopic gastrostomy PEFR Peak expiratory flow rate PET Positron emission tomography PIPJ Proximal interphalangeal joint PRL Prolactin PSC Primary sclerosing cholangitis PSV Public service vehicle PTHrP Parathyroid hormone-related peptide PUVA Psoralen ultraviolet A RA Rheumatoid arthritis RAD Right axis deviation RBBB Right bundle branch block RR Respiratory rate RV Right ventricle RVH Right ventricular hypertrophy Rx Treatment MCPJ

xii

Abbreviations

SCLC SIADH

SLE SOA SSRI SVCO T4 T ◦C TIA TIMI

TL CO

Small cell lung cancer Syndrome of inappropriate anti-diuretic hormone Systemic lupus erythematosus Swelling of ankles Selective serotonin reuptake inhibitor Superior vena cava obstruction Thyroxine Temperature Transient ischaemic attack Thrombolysis in myocardial infarction Carbon monoxide transfer factor

TNM TOE TPHA TR TSH TTE U&E UC UFH UIP UTI VEGF VSD WCC

Tumour nodes metastasis (staging) Transoesophageal echo Treponema pallidum haemaggutination assay Tricuspid regurgitation Thyroid stimulating hormone Transthoracic echo Urea and electrolytes Ulcerative colitis Unfractionated heparin Usual interstitial pneumonia Urinary tract infection Vascular endothelial growth factor Ventricular septal defect White cell count

Station 1 Abdominal and Respiratory

Chronic liver disease and hepatomegaly This man complains of weight loss and abdominal discomfort. His GP has referred him to you for a further opinion. Please examine his abdomen. Clinical signs Signs of chronic liver disease

r General: cachexia, icterus (also in acute), excoriation and bruising r Hands: leuconychia, clubbing, Dupuytren’s contractures and palmar ery-

thema

r Face: xanthelasma, parotid swelling and fetor hepaticus r Chest and abdomen: spider naevi and caput medusa, reduced body hair,

gynaecomastia and testicular atrophy (in males)

Signs of hepatomegaly

r Palpation and percussion: r Mass in the right upper quadrant that moves with respiration, that you

are not able to get above and is dull to percussion

r Estimate size (finger breadths below the diaphragm) r Smooth or craggy/nodular (malignancy/cirrhosis) r Pulsatile (TR in CCF)

r Auscultation r Bruit over liver (hepatocellular carcinoma)

Extra points Evidence of an underlying cause of hepatomegaly r Tattoos and needle marks r Pigmentation r Cachexia r Mid-line sternotomy scar

Infectious hepatitis/alcohol Haemochromatosis Malignancy CCF

Cases for PACES, 2nd edition. By S. Hoole, A. Fry, D. Hodson & R. Davies. Published 2010 by Blackwell Publishing.

2

Abdominal and Respiratory

Evidence of treatment

r Ascitic drain/tap sites and peritonovenous shunts r Surgical scars

Evidence of decompensation

r Ascites: shifting dullness r Asterixis: ‘liver flap’ r Altered consciousness: encephalopathy

Discussion Causes of hepatomegaly The big three: Cirrhosis (alcoholic) Carcinoma (secondaries) Congestive cardiac failure Plus: Infectious (HBV and HCV) Immune (PBC, PSC and autoimmune hepatitis) Infiltrative (amyloid and myeloproliferative disorders)

Investigations

r Bloods: FBC, clotting, U&E, LFT and glucose r Ultrasound scan abdomen r Tap ascites (if present)

If cirrhotic

r Liver screen bloods: r Autoantibodies and immunoglobulins (PBC and autoimmune hepatitis) r Hepatitis B and C serology r Ferritin (haemochromatosis) r Caeruloplasmin (Wilson’s disease) r ␣-1 antitrypsin

r Autoantibodies and immunoglobulins (PBC and autoimmune hepatitis) r AFP (hepatocellular carcinoma)

r Hepatic synthetic function: INR (acute) and albumin (chronic) r Liver biopsy (diagnosis and staging) r ERCP (diagnose/exclude PSC)

If malignancy

r Imaging: CXR and CT abdomen/chest r Colonoscopy/gastroscopy r Biopsy

Abdominal and Respiratory 3

Complications of cirrhosis

r Variceal haemorrhage due to portal hypertension r Hepatic encephalopathy r Spontaneous bacterial peritonitis

Child-Pugh classification of cirrhosis Prognostic score based on bilirubin/albumin/INR/ascites/encephalopathy Score 1 year prognosis A: 5–6 100% B: 7–9 81% C: 10–15 45%

Causes of ascites r Cirrhosis (80%) r Carcinomatosis r CCF

Treatment of ascites in cirrhotics r Abstinence from alcohol r Salt restriction r Diuretics (aim: 1 kg weight loss/day) r Liver transplantation

Causes of palmar erythema r Cirrhosis r Hyperthyroidism r Rheumatoid arthritis r Pregnancy r Polycythaemia

Causes of gynaecomastia

r Physiological: puberty and senility r Kleinfelter’s syndrome

r Cirrhosis r Drugs, e.g. spironolactone and digoxin r Testicular tumour/orchidectomy r Endocrinopathy, e.g. hyper/hypothyroidism and Addison’s

4


Haemochromatosis This 52-year-old man was referred after a diagnosis of diabetes mellitus was made by his GP. Please examine him and discuss further investigations. Clinical signs

r Increased skin pigmentation r Stigmata of chronic liver disease r Hepatomegaly

Extra points Scars r Venesection r Liver biopsy

r Joint replacement r Abdominal rooftop incision (hemihepatectomy for hepatocellular carci-

noma)

Evidence of complications

r Endocrine: ‘bronze diabetes’ (e.g. injection sites), hypogonadism and tes-

ticular atrophy

r Cardiac: congestive cardiac failure r Joints: arthropathy (pseudo-gout)

Discussion Inheritance

r Autosomal recessive on chromosome 6 r HFE gene mutation: regulator of gut iron absorption r Homozygous prevalence 1:300, carrier rate 1:10 r Males affected at an earlier age than females – protected by menstrual

iron losses

Presentation

r Fatigue and arthritis r Chronic liver disease r Incidental diagnosis or family screening

Investigation

r ↑ Serum ferritin r ↑ Transferrin saturation

Abdominal and Respiratory 5 r ↓ Total iron-binding capacity r Liver biopsy (diagnosis + staging) r Genotyping

And consider:

r Blood glucose r ECG, CXR, ECHO r Liver ultrasound, α-fetoprotein

Diabetes Cardiac failure Hepatocellular carcinoma (HCC)

Treatment

r Regular venesection (1 unit /week) until iron deficient, then venesect 1 unit,

3–4 times/year

r Avoid alcohol r Surveillance for HCC

Family screening (1st degree relatives aged > 20 years) r Iron studies

If positive: r Liver biopsy r Genotype analysis

Prognosis

r 200 × increased risk of HCC if cirrhotic r Reduced life expectancy if cirrhotic r Normal life expectancy without cirrhosis + effective treatment

Liver transplantation in haemochromatosis

r Only 50% 1-year survival r High mortality: cardiac + infectious complications

6


Splenomegaly This man presents with tiredness and lethargy. Please examine his abdominal system and discuss your diagnosis. Clinical signs General

r Anaemia r Lymphadenopathy (axillae, cervical and inguinal areas) r Purpura

Abdominal

r Left upper quadrant mass that moves inferomedially with respiration, has

a notch, is dull to percussion and you cannot get above nor ballot

r Estimate size r Check for hepatomegaly

Extra points

r Lymphadenopathy r Stigmata of chronic liver disease r Splinter haemorrhages, murmur etc. r Rheumatoid hands

Haematological and infective Cirrhosis with portal hypertension Bacterial endocarditis Felty’s syndrome

Discussion Causes

r Massive splenomegaly (>8 cm): r Myeloproliferative disorders (CML and myelofibrosis) r Tropical infections (malaria, visceral leishmaniasis: kala-azar) r Moderate (4–8 cm): r Myelo/lymphoproliferative disorders r Infiltration (Gaucher’s and amyloidosis) r Tip (10 years,

increasing in frequency with every decade from diagnosis (2-yearly 20–30 years, annually >30 years) r Colectomy if dysplasia is detected

Extra-intestinal manifestations r Mouth: r Skin:

r Joint: r Eye: r Liver: r Systemic amyloidosis (∗ related to disease activity).

Apthous ulcers∗ Erythema nodosum∗ Pyoderma gangrenosum∗ Finger clubbing∗ Large joint arthritis∗ Seronegative arthritides Uveitis∗ , episcleritis∗ and iritis∗ Primary sclerosing cholangitis (UC)

16


Pleural effusion This patient has been breathless for 2 weeks. Examine his respiratory system to elucidate the cause. Clinical signs

r Reduced expansion r Trachea or mediastinum (apex beat) displaced away from the side of the

effusion

r Stony dull percussion note r Absent tactile vocal fremitus r Reduced air entry and breath sounds r Bronchial breathing above (aegophony)

Extra points Signs that may indicate the cause

r Cancer: clubbing and lymphadenopathy r Congestive cardiac failure: raised JVP r Chronic liver disease: leuconychia, spider naevi and gynaecomastia r Chronic renal failure: arteriovenous fistula r Connective tissue disease: rheumatoid hands r Signs of DVT

Causes of a dull lung base

r Consolidation: bronchial breathing and crackles r Collapse: tracheal deviation towards the side of collapse and reduced

breath sounds

r Pleural thickening: signs are similar to a pleural effusion but with normal

tactile vocal fremitus

r Raised hemidiaphragm

Discussion Causes Transudate (protein 30 g/L) Neoplasm: 1◦ or 2◦ Infection Infarction Inflammation: RA and SLE


Investigation

r CXR: large pleural effusion with no mediastinal shift – indicates associated

collapse and a bronchoscopy is indicated to rule out an obstructing lesion

Pleural aspiration (exudate)

r Protein: effusion albumin/plasma albumin >0.5 (Light’s criteria) r LDH: effusion LDH/plasma LDH >0.6 r Empyema: an exudate with a low glucose and pH 0.8 (restrictive) 1 r Low TLC (small lungs)

r Reduced K CO r Bronchoalveolar lavage: lymphocytes > neutrophils indicate a better

response to steroids and a better prognosis (sarcoidosis)

r High resolution CT scan: distribution of fibrosis to sub-pleural lung is

typical of usual interstitial pneumonia

r Lung biopsy

Treatment

r Immunosuppression, e.g. steroids and azathioprine, but the evidence that

any treatment works is weak

r N-acetyl cycsteine – free radical scavenger r Single lung transplant r NB: Beware single lung transplantation patient – unilateral fine crackles

and contralateral thoracotomy scar with normal breath sounds


Prognosis

r Very variable r Highly cellular with ground glass infiltrate – responds to immunosuppres-

sion: 80% 5-year survival

r Honeycombing on CT – no response to immunosuppression: 80% 5-year

mortality

r There is an increased risk of bronchogenic carcinoma

Hamman–Rich syndrome

r A rapidly progressive and fatal variant of CFA; exceptionally rare

Causes of basal fibrosis

r CFA (now called usual interstitial pneumonia (UIP)) r Asbestosis r Connective tissue diseases r Aspiration

22


Old tuberculosis Please examine this man’s respiratory system. Clinical signs

r Chest deformity and absent ribs r Tracheal deviation towards the side of the fibrosis (traction) r Reduced expansion r Dull percussion but present tactile vocal fremitus r Crackles and bronchial breathing

Extra points

r Scars r Thoracoplasty

r Supraclavicular fossa: phrenic nerve crush r Kyphosis: Pott’s fracture

Discussion

r Prior to the development of chemotherapy, inducing apical collapse was a

treatment for TB. It was thought that the lower O2 tension would inhibit TB proliferation

Techniques

r Plombage: insertion of polystyrene balls into the thoracic cavity r Phrenic nerve crush: diaphragm paralysis r Thoracoplasty: rib removal; lung not resected r Apical lobectomy r Recurrent medical pneumothoraces

r Streptomycin was introduced in the 1950s. It was the first drug shown to

be beneficial in a randomized controlled trial New treatments involve combination chemotherapy to avoid resistance

Serious side effects r Isoniazid r Rifampicin

r Ethambutol r Pyrazinamide

Peripheral neuropathy (Rx Pyridoxine) and hepatitis Hepatitis and increased contraceptive pill metabolism Retro-bulbar neuritis and hepatitis Hepatitis

Prior to treating TB, check baseline liver function tests and visual acuity. Tell the patient the following: 1 Look at the whites of your eyes every morning. If yellow, stop the tablets and ring the TB nurse that morning.


2 Notice colours – if red becomes less bright than you expect ring the TB nurse that day. 3 You may develop tingling in your toes – continue with the tablets but tell the doctor at your next clinic visit. 4 Your secretions will turn orange/red. This is because of a dye in one of the tablets. If you wear contact lenses they will become permanently stained and should not be worn. 5 If you are on the OCP, it may fail. Use barrier contraception.

Complications of old TB

r Aspergilloma in the old TB cavity ± haemoptysis r Bronchiectasis due to lymph node compression of large airways and trac-

tion from fibrosis

r Pleural effusion/thickening r Scarring from TB predisposes to bronchial carcinoma

Causes of apical fibrosis TRASHE

r TB r Radiation r Ankylosing spondylitis/ABPA r Sarcoidosis r Histoplasmosis/Histiocytosis X r Extrinsic allergic alveolitis (now referred to as hypersensitivity pneumonitis)

24


Pneumonia This patient has been acutely unwell for 3 days, with shortness of breath and a productive cough. Please examine his chest. Clinical signs

r Tachypnoea (count respiratory rate), O mask, sputum pot (rusty sputum 2

associated with pneumococcus)

r Reduced expansion and increased tactile vocal fremitus r Dull percussion note

r Focal coarse crackles, increased vocal resonance and bronchial breathing r Ask for the temperature chart

Extra points

r Complications, e.g. para-pneumonic effusion (pH 7.2–7.4) r Erythema multiforme: target lesions (mycoplasma)

Discussion Investigation

r CXR: consolidation (air bronchogram), abscess and effusion r Bloods: WCC, CRP, urea, atypical serology (on admission and at day 10)

and immunoglobulins

r Blood (25% positive) and sputum cultures r Urine: r Legionella antigen (in severe cases)

r Pneumococcal antigen r Haemoglobinuria (mycoplasma causes cold agglutinins → haemolysis)

Management rO 2 r Antibiotics

Community acquired pneumonia (CAP)

r Common organisms: r Streptococcus pneumoniae 50% r Mycoplasma pneumoniae 6% r Haemophilus influenzae (especially if COPD) r Chlamydia pneumoniae. r Antibiotics: r 1st line: penicillin or cephalosporin + macrolide


Hospital-acquired pneumonia

r Common organisms as above plus: r Pseudomonas.

r Staphylococcus aureus including MRSA r Gram-negative bacilli

r Antibiotics: r 1st line: anti-pseudomonal penicillin plus aminoglycoside r Vancomycin for MRSA

Special considerations r Immunosuppressed: r Fungal

r Multi-resistant mycobacteria r Pneumocystis carinii r CMV

Rx Amphotericin

Rx Cotrimoxazole/Pentamidine Rx Ganciclovir r Aspiration (commonly posterior segment of right lower lobe): r Anaerobes Rx + Metronidazole r Post-influenza: r Staph. aureus Rx + Flucloxacillin

Severity score for pneumonia: CURB-65 (2/5 is severe) r Confusion r Urea >7 r Respiratory rate >30 r BP systolic 38 or 3/12 on >2 consecutive years

r Emphysema: pathological diagnosis destruction of alveolar walls r Degree of overlap with chronic asthma, although in COPD there is less

reversibility (15% change in FEV1 post-bronchodilators)

Causes

r Environmental: smoking and industrial dust exposure (apical disease) r Genetic: ␣ -antitrypsin deficiency (basal disease) 1

Investigations

r CXR: hyper-expanded and/or pneumothorax r ABG: type II respiratory failure (low PaO high PaCO ) 2 2 r Bloods: high WCC (infection), low ␣ -antitrypsin (younger patients/FH+), 1

low albumin (severity) r Spirometry: low FEV (80) – beta-agonists r Moderate (FEV1 100 mm Hg severe)

r Catheter: aortic gradient and coronary angiography (coronary artery dis-

ease often coexists with aortic stenosis)

Management

r Asymptomatic r None r Regular review: symptoms and echo to assess gradient and LV function r Symptomatic r Surgical r Aortic valve replacement +/− CABG

r Operative mortality 3–5% depending on the patient’s EuroScore

(www.euroscore.org/calc.html)

Cardiology and Neurology 61 r Percutaneous r Transcutaneous aortic valve implantation (TAVI) r Transfemoral or transapical

r Maybe recommended if high surgical risk (logEuroscore >20%) r Balloon aortic valvuloplasty (BAV)

Duke’s criteria for infective endocarditis Major: r Typical organism in two blood cultures r Echo: abscess∗ , large vegetation∗ , dehiscence∗ Minor: r Pyrexia >38◦ C r Echo suggestive r Predisposed, e.g. prosthetic valve r Embolic phenomena∗ r Vasculitic phenomena (ESR↑, CRP↑) r Atypical organism on blood culture Diagnose if the patient has 2 major, 1 major and 2 minor, or 5 minor criteria. (∗ plus heart failure/refractory to antibiotics/heart block are indicators for urgent surgery). Recommendations for antibiotic prophylaxis were revised by NICE in 2007. Prophylaxis should be limited to only those with prosthetic valves, previous endocarditis, cardiac transplants with valvulopathy and certain types of congenital heart disease. Good dental health is recommended.

62

Cardiology and Neurology

Aortic incompetence This patient has been referred by his GP with ‘a new murmur’. He is asymptomatic. Please examine his cardiovascular system and diagnose his problem.

Clinical signs

r Collapsing pulse (waterhammer pulse) r Wide pulse pressure, e.g. 180/45 r Apex beat is hyperkinetic and displaced laterally (TV: thrusting volume-

loaded)

r Thrill in the aortic area r Auscultation

S1

A2

Early diastolic murmur (EDM) loudest at the lower left sternal edge with the patient sat forward in expiration.

P2

There may be an aortic flow murmur and a mid-diastolic mumur (MDM) (Austin−Flint). EDM (Aortic flow)

(MDM)

In severe AR there may be ‘free flow’ regurgitation and the EDM may be silent.

Extra points

r Severity: collapsing pulse, wide pulse pressure and pulmonary oedema r Cause: idiopathic; aging; hypertension; connective tissue disease, e.g.

Marfan’s, ankylosing spondylitis; syphilis (Argyll Robertson pupil), vaculitides, drug: pergolide (dopamine agonist used in Parkinson’s disease causing cardiac fibrosis) r Eponymous signs r Corrigan’s: visible vigorous neck pulsation r Quincke’s: nail bed capillary pulsation r De Musset’s: head nodding r Duroziez’s: diastolic murmur proximal to femoral artery compression r Traube’s: ‘pistol shot’ sound over the femoral arteries

Cardiology and Neurology 63

Discussion Causes

r Congenital, e.g. bicuspid aortic valve or associated with perimembranous

VSD

r Acquired:

Valve leaflet Aortic root

Acute Endocarditis Dissection (type A) Trauma

Chronic Rheumatic fever Connective tissue disease, e.g. RA Dilatation: Marfan’s and hypertension Aortitis: syphilis, ankylosing spondylitis and vasculitis

Other causes of a collapsing pulse r Pregnancy r Patent ductus arteriosus r Paget’s disease r Anaemia r Thyrotoxicosis

Investigation

r ECG: lateral T-wave inversion r CXR: cardiomegaly, widened mediastinum and pulmonary oedema r TTE/TOE:

Severity: LV ejection fraction and dimensions, root dimensions Cause: intimal dissection flap or vegetation r Cardiac catheterization: grade severity and check coronary patency

Management Medical

r ACE inhibitors and ARBs (reducing afterload) r Regular review: symptoms and echo: LVEF, LV size and degree of AR

Surgery Acute: r Dissection r Aortic root abscess/endocarditis (homograft preferably) Chronic: Replace the aortic valve when: r Symptomatic: dyspnoea and reduced exercise tolerance (NYHA > II) OR

64


r The following criteria are met:

1 pulse pressure >100 mm Hg 2 ECG changes 3 LV enlargement on CXR or EF 50% – 1% mortality at 5 years. Symptomatic and all three criteria present – 65% mortality at 3 years.


Mitral stenosis This patient has been complaining of reduced exercise tolerance. Examine his heart and elucidate the cause of his symptoms. Clinical signs

r Malar flush r Irregular pulse if AF is present r Tapping apex (palpable first heart sound) r Left parasternal heave if pulmonary hypertension is present or enlarged

left atrium

r Auscultation

Loud S1

A2

P2

OS MDM

Loud first heart sound. Opening snap (OS) of mobile mitral leaflets opening followed by a mid-diastolic murmur (MDM), which is best heard at the apex, in the left lateral position in expiration with the bell. Presystolic accentuation of the MDM occurs if the patient is in sinus rhythm. If the mitral stenosis is severe then the OS occurs nearer A2 and the MDM is longer.

Extra points

r Haemodynamic significance Pulmonary hypertension: functional tricuspid regurgitation, right ventricular heave, loud P2 . LVF: pulmonary oedema, RVF: sacral and pedal oedema. r Endocarditis r Embolic complications: stroke and absent pulses r Other rheumatic valve lesions

Discussion Causes Congenital: cleft mitral valve (rare)

Acquired: Rheumatic (commonest) Senile degeneration Large mitral leaflet vegetation from endocarditis

66


Differential diagnosis Left atrial myxoma Austin–Flint murmur

Investigation

r ECG: p-mitrale and atrial fibrillation r CXR: enlarged left atrium (splayed of carina), calcified valve, pulmonary

oedema

r TTE/TOE: valve area ( II – 50% mortality at 5 years.

Rheumatic fever

r Immunological cross-reactivity between Group A ␤-haemolytic streptococ-

cal infection, e.g. Streptococcus pyogenes and valve tissue

r Duckett–Jones diagnostic criteria

Proven ␤-haemolytic streptococcal infection diagnosed by throat swab, rapid antigen detection test (RADT), anti-streptolysin O titre (ASOT) or clinical scarlet fever plus 2 major or 1 major and 2 minor: Major Chorea Erythema marginatum Subcutaneous nodules Polyarthritis Carditis

Minor Raised ESR Raised WCC Arthralgia Previous rheumatic fever Pyrexia Prolonged PR interval r Treatment: Rest, high-dose aspirin and penicillin r Prophylaxis: r Primary prevention: penicillin V (or clindamycin) for 10 days r Secondary prevention: penicillin V for about 5–10 years


Mitral incompetence This patient has been short of breath and tired. Please examine his cardiovascular system. Clinical signs

r Scars: lateral thoracotomy (valvotomy) r Pulse: AF, small volume r Apex: displaced and volume loaded r Palpation: thrill at apex r Auscultation:

Soft S1

A2

P2 S 3

PSM

Pan-systolic murmur (PSM) loudest at the apex radiating to the axilla. Loudest in expiration. Wide splitting of A2P2 due to the earlier closure of A2 because the LV empties sooner. S3 indicates rapid ventricular filling from LA, and excludes significant mitral stenosis.

Extra points

r Pulmonary oedema r Endocarditis r Severity: left ventricular failure and atrial fibrillation (late). Not intensity

of the murmur

r Other murmurs, e.g. ASD

Discussion Causes

r Congenital (associated with secundum ASD) r Acquired:

Acute Chronic Valve leaflets Bacterial endocarditis Myomatous degeneration (prolapse) Rheumatic Connective tissue diseases Fibrosis (fenfluramine/pergolide) Valve annulus Dilated left ventricle (functional MR) Calcification Chordae/ Rupture Infiltration, e.g. amyloid papillae Fibrosis (post-MI/trauma)

68


Investigation

r ECG: p-mitrale, atrial fibrillation and previous infarction (Q waves) r CXR: cardiomegaly, enlargement of the left atrium and pulmonary oedema r TTE/TOE:

Severity: size/density of MR jet, LV dilatation and reduced EF Cause: prolapse, vegetations, ruptured papillae and infarction

Management

r Medical r Anticoagulation for atrial fibrillation or embolic complications r Diuretic and ACE inhibitors r Surgical

r Valve repair (preferable) with annuloplasty ring or replacement r Aim to operate when symptomatic, prior to severe LV dilatation and

dysfunction

Prognosis

r Often asymptomatic for >10 years r Symptomatic – 25% mortality at 5 years

Mitral valve prolapse

r Common (5%), especially young tall women r Associated with connective tissue disease, e.g. Marfan’s syndrome and

HOCM

r Often asymptomatic, but may present with chest pain, syncope and palpi-

tations

r Small risk of emboli and endocarditis r Auscultation

S1

EC

A2

P2

S3

Mid-systolic ejection click (EC). Pan-systolic murmur that gets louder up to A2. Murmur is accentuated by standing from a squatting position or during the straining phase of the Valsalva manoeuvre, which reduces the flow of blood through the heart.


Tricuspid incompetence Examine this patient’s cardiovascular system. He has been complaining of abdominal discomfort. Clinical signs

r Raised JVP with giant CV waves r Thrill left sternal edge r Auscultation

S1

P2 A2

S3

Pan-systolic murmur (PSM) loudest at the tricuspid area in inspiration. Reverse split second heart sound due to rapid RV emptying. Right ventricular rapid filling gives an S3.

PSM r Pulsatile liver, ascites and peripheral oedema

Extra points

r Endocarditis from IV drug abuse: needle marks r Pulmonary hypertension: RV heave and loud P 2 r Other valve lesions: rheumatic mitral stenosis

Discussion Causes

r Congenital: Ebstein’s anomaly (atrialization of the right ventricle and TR) r Acquired:

Acute: infective endocarditis (IV drug user) Chronic: functional (commonest), rheumatic and carcinoid syndrome

Investigation

r ECG: p-pulmonale and RVH r CXR: double right heart border (enlarged right atrium) r TTE: TR jet

Management

r Medical: diuretics, ACE inhibitors and support stockings for oedema r Surgical: valve repair/annuloplasty if medical treatment fails

70


Pulmonary stenosis Examine this patient’s cardiovascular system. He has had swollen ankles. Clinical signs

r Raised JVP with giant a waves r Left parasternal heave r Thrill in the pulmonary area r Auscultation

A2

S1

P2

S4

Ejection systolic murmur (ESM) heard loudest in the pulmonary area in inspiration. Widely split second heart sounds, due to a delay in RV emptying.

ESM

Severe: inaudible P2, longer murmur duration obscuring A2.

Extra points

r Tetralogy of Fallot: PS, VSD, overriding aorta and RVH (sternotomy scar) r Noonan’s syndrome: phenotypically like Turner’s syndrome but male sex r Other murmurs: functional TR and VSD r Right ventricular failure: ascites and peripheral oedema


r ECG: p-pulmonale, RVH and RBBB r CXR: oligaemic lung fields and large right atrium r TTE: gradient calculation

Management

r Pulmonary valvotomy – if gradient >70 mm Hg or there is RV failure r Percutaneous pulmonary valve implantation (PPVI) r Surgical repair/replacement


Carcinoid syndrome

r Gut primary with liver metastasis secreting 5-HT into the systemic

circulation

r Toilet-symptoms: diarrhoea, wheeze and flushing! r Secreted mediators scar and thicken the right-sided heart valves resulting

in tricuspid regurgitation and/or pulmonary stenosis

r Rarely a bronchogenic primary tumour can release 5-HT into the systemic

circulation and cause left-sided valve scarring

72


Prosthetic valves: aortic and mitral This patient has recently been treated for dyspnoea/chest pain/syncope. Please examine his cardiovascular system. Clinical signs

r Audible prosthetic clicks (metal) on approach and scars on inspection

1 2 3

4

3 4

Midline sternotomy (CABG, AVR, MVR) Lateral thoracotomy (MVR, mitral valvotomy, coarctation repair, BT shunt) Subclavicular (Pacemaker, AICD) Anticubital fossa (angiography)

Also look in the groins for angiography scars/bruising and legs for saphenous vein harvest used in bypass grafts.

1 2

r Auscultation: don’t panic! S1 OC

A metal prosthetic closing click (CC) is heard instead of A2. There may be an opening click (OC) and ejection systolic flow murmur. A heterograft bioprosthesis (porcine) often has normal heart sounds.

CC P2

Flow murmur

Abnormal findings: AR Decreased intensity of the closing click

Aortic valve replacement

CC

A metal prosthetic closing click is heard instead of S1. An opening click may be heard in early diastole followed by a low-frequency diastolic rumble. A porcine valve replacement often has normal heart sounds.

S2 OC

Flow murmur Mitral valve replacement

Abnormal findings: MR Decreased intensity of the closing click.


Extra points Complications

r Bacterial endocarditis signs r Valve failure: see abnormal findings above r Anticoagulation: bruises (metal valve) and anaemia

Cause

r Multiple valve murmurs/replacements: rheumatic fever r Saphenous vein harvest scars: aortic valve replacement more likely

Discussion management Choice of valve replacement Metal Porcine

For Durable No warfarin

Against Warfarin Less durable (10 years)

Indication Young/on warfarin, e.g. for AF Elderly/at risk of haemorrhage

Prognosis

r Operative mortality: 3–5%

Late complications

r Thromboembolus: 1–2% per annum despite warfarin r Bleeding: fatal 0.6%, major 3%, minor 7% per annum on warfarin r Prosthetic dysfunction and LVF r Haemolysis: mechanical red blood cell destruction against the metal valve r Infective endocarditis: r Early infective endocarditis ( 4 weeks ago r LVEF < 35% and non-sustained VT and positive EP study or r LVEF < 35% and QRSd ≥ 120 milliseconds r Familial condition with high-risk SCD r LQTS, ARVD, Brugada, HCM, complex congenital heart disease

Secondary prevention (without other treatable cause): r cardiac arrest or r haemodynamically compromising VT or r VT with LVEF < 35% (not NYHA IV)

Cardiac resynchronization therapy (CRT) – biventricular pacemakers (BiV) Extra LV pacemaker lead via the coronary sinus – improves mortality/ symptoms

Indications

r LVEF < 35% r NYHA III–IV on optimal medical therapy r Sinus rhythm and QRSd > 150 milliseconds or QRSd >120 milliseconds

and echocardiographic evidence of dyssynchrony


Pericardial disease Constrictive pericarditis This man has had previous mantle radiotherapy for lymphoma and has a chronic history of leg oedema, bloating and weight gain. Clinical signs

r Predominantly right-side heart failure r Raised JVP r Dominant, brief y-descent due to rapid early ventricular filling and rise

in diastolic pressure Jugular venous pressure waves a

c

v x y

a: atrial systole c: closure of tricuspid valve x: movement of atrioventricular ring during ventricular systole v: filling of the atrium y: opening of the tricuspid valve

Rapid dominant y-descent due to high RA pressures and an early rise in RV diastolic pressure due to poor pericardial compliance. r Kussmaul’s sign: paradoxical increase in JVP on inspiration (may need

to sit the patient at 90◦ rather than 45◦ to observe the meniscus)

r Pulsus paradoxus: r >10 mm Hg drop in systolic pressure in inspiration (not a true paradox

as it normally decreases by 2–3 mm Hg!)

r Ausculatation: r Pericardial knock – it’s not a knock but a high-pitched snap (audible,

early S3 due to rapid ventricular filling into a stiff pericardial sac)

r Ascites, hepatomegaly (congestion) and bilateral peripheral oedema

Extra points

r Cause: r TB: cervical lymphadenopathy r Trauma (surgery): sternotomy scar r Tumour, Therapy (radio): radiotherapy tattoos, thoracotomy scar r Connective Tissue disease: rheumatoid hands, SLE signs

76

Cardiology and Neurology r Infection: purulent r Post-MI (Dressler’s)

Discussion

r Investigation: r CXR: pericardial calcification, old TB and sternotomy wire r Echo: high acoustic signal from pericardium, pericardial effusion (rare),

R → L septal bulge (‘shudder’) and a reduction in aortic and mitral flow during inspiration r Catheter laboratory: r Dip and plateau of the diastolic wave form: square-root sign r Equalization of LV and RV diastolic pressures (RV diastolic pressure is high) r CT: thickened pericardium r Pathophysiology: r Thickened, fibrous capsule reduces ventricular filling and ‘insulates’ the heart from intrathoracic pressure changes during respiration leading to ventricular interdependence – enlargement of one ventricle reduces the size of the other. r Treatment: r Medical: diuretics and fluid restriction r Surgical: pericardial stripping Differentiating pericardial constriction from restrictive cardiomyopathy is difficult!


COMMON CONGENITAL DEFECTS Ventricular septal defect This patient has developed sudden shortness of breath. Examine his heart. Clinical signs

r Thrill at the left lower sternal edge r Auscultation

S1

A2 P2

ESM or PSM

Systolic murmur well localized at the left stemal edge with no radiation. Second heart sounds are often obliterated. Loudness does not correlate with size (Maladie de Roger: loud murmur due to high-flow velocity through a small VSD). If Eisenmenger's develops the murmur often disappears as the gradient diminishes.

Extra points

r Other associated lesions: AR, PDA (10%), Fallot’s tetralogy and coarctation r Pulmonary hypertension: loud P and RV heave 2 r Shunt reversal: right to left (Eisenmenger’s syndrome): cyanosis and club-

bing

r Endocarditis

Discussion Causes

r Congenital r Acquired (traumatic or post-MI)

Investigation

r ECG: conduction defect r CXR: pulmonary plethora r TTE/TOE: site, size and shunt calculation r Cardiac catheterization: O -saturation measurements quantify shunt size; 2

aortography excludes a PDA and coarctation

78


Management

R Surgical (pericardial patch) or percutaneous (Amplatzer device) closure of haemodynamically significant defects.

Associations with VSD 1. Fallot’s tetralogy

r Right ventricular hypertrophy r Overriding aorta r VSD r Pulmonary stenosis

Blalock–Taussig (BT) shunts r Corrects the Fallot’s abnormality by anastomosing the subclavian artery to the pulmonary artery r Absent radial pulse Other causes of an absent radial pulse r Acute: embolism, aortic dissection, trauma, e.g. cardiac catheter and death (!) r Chronic: atherosclerosis, coarctation, Takayasu’s arteritis (‘pulseless disease’)

2. Coarctation A congenital narrowing of the aortic arch that is usually distal to the left subclavian artery.

Clinical signs

r Hypertension in right ± left arm r Prominent upper body pulses, absent/weak femoral pulses, radiofemoral

delay

r Heaving pressure loaded apex r Auscultation: continuous murmur from the coarctation and collaterals ra-

diating through to the back. There is a loud A2 . There may be murmurs from associated lesions

Discussion Associations

r Cardiac: VSD, bicuspid aortic valve and PDA r Non-cardiac: Turner’s syndrome and Berry aneurysms


Investigation

r ECG: LVH and RBBB r CXR: rib notching, double aortic knuckle (post-stenotic dilatation)

Management

r Percutaneous: endovascular aortic repair (EVAR) r Surgical: Dacron patch aortoplasty r Long-term anti-hypertensive therapy r Long-term follow-up/surveillance with MRA: late aneurysms and recoarc-

tation

3. Patent ductus arteriosus (PDA) Continuity between the aorta and pulmonary trunk with left to right shunt Risk factor: rubella

Clinical signs

r Collapsing pulse r Thrill second left inter-space r Thrusting apex beat r Auscultation: loud continuous ‘machinery murmur’ loudest below the left

clavicle in systole

Discussion Complications

r Eisenmenger’s syndrome (5%) r Endocarditis

Management

r Closed surgically or via cardiac catheter with an amplatzer PDA occlusion

device


80

Atrial septal defect This young woman complains of cough and occasional palpitations. Examine her cardiovascular system. Clinical signs

r Raised JVP r Pulmonary area thrill r Auscultation

S1

A2 P2

Fixed split-second heart sounds that do not change with respiration. Pulmonary ejection systolic flow murmur and tricuspid diastolic flow murmur with large left-to-right shunts. A loud P2 indicates pulmonary hypertension. There is no mumur from the ASD itself.

Pulmonary ESM

Tricuspid flow murmur

Extra points

r Pulmonary hypertension: RV heave and loud P 2 r Congestive cardiac failure r Down’s syndrome: endocardial cushion defect causes a primum ASD and

other atrioventricular valve abnormalities (e.g. AVSD or cleft mitral valve)

Discussion Types

r Primum (nearest the atrioventricular valve apparatus) r Secundum (commonest)

Complications

r Paradoxical embolus r Atrial arrhythmias r Congestive cardiac failure r Endocarditis is rare

Investigation

r ECG: RBBB + LAD (primum) or + RAD (secundum); atrial fibrillation r CXR: small aortic knuckle, pulmonary plethora and double-heart-border

(enlarged right atrium)

Cardiology and Neurology 81 r TTE/TOE: site, size and shunt calculation; amenability to closure r Cardiac catheter: shunt calculation (not always necessary)

Management Indications for closure: r Paradoxical emboli – stroke r L-R Shunt Qp:Qs > 1.5:1 and evidence of RV dilatation/CCF – breathlessness

Closure

r Percutaneous closure device, e.g. Amplatzer R septal occluder r Secundum ASD only, no left atrial appendage thrombus or anomalous

pulmonary venous drainage, adequate rim to anchor device

r Surgical patch repair

82


Hypertrophic (obstructive) cardiomyopathy This young man has complained of palpitations whilst playing football. Examine his cardiovascular system. Clinical signs

r Jerky pulse character r Double apical impulse (palpable atrial and ventricular contraction) r Thrill at the lower left sternal edge r Auscultation

S1

EC

A2 P2

S4

ESM+/−MVP

Ejection systolic murmur (ESM) at the left sternal edge that radiates throughout the precordium. Associated with MVP: ejection click and late systolic murmur. A fourth heartsound (S4) is present due to blood hitting a hypertrophied stiff LV during atrial systole. ESM is accentuated by reducing blood flow through the heart, e.g. standing from a squatting position or straining during a Valsalva manoeuvre.

Extra points

r Associated mitral valve prolapse (MVP) r Features of Friedreich’s ataxia or myotonic dystrophy r Family history


r ECG: LVH with strain and LAD r CXR: often normal r TTE: asymmetrical septal hypertrophy and systolic anterior motion of the

anterior mitral leaflet on M-mode, gradient (rest/exercise)

r Cardiac MR: identifies apical HCM more reliably than TTE r Cardiac catheterization: gradient at rest, after a ventricular ectopic and

with pharmacological stress and identification of septals

r Genetic tests: sarcomeric proteins

Management

r Rhythm disturbance/high risk for sudden death r ICD

Cardiology and Neurology 83 r LVOT gradient > 30 mm Hg and symptoms (breathlessness, syncope/

presyncope and angina r ␤-blockers (avoid diuretics and nitrates) r Pacemaker r Percutaneous alcohol septal ablation r Surgical septal myomectomy/partial excision of the septal papillary muscle r Avoidance of strenuous sport r Family counselling and screening (autosomal dominant inheritance)

Prognosis

r Annual mortality rate in adults is 2.5% r Poor prognosis factors: r Young age at diagnosis r Syncope r Family history of sudden death r Septal thickness > 3 cm

84


Dystrophia myotonica This man complains of worsening weakness in his hands. Please examine him. Clinical signs Face

r Myopathic facies: long, thin and expressionless r Wasting of facial muscles and sternocleidomastoid r Bilateral ptosis

r Frontal balding r Dysarthria: due to myotonia of tongue and pharynx

Hands

r Myotonia: ‘Grip my hand, now let go’ (may be obscured by profound

weakness). ‘Screw up your eyes tightly shut, now open them’.

r Wasting and weakness of distal muscles with areflexia. r Percussion myotonia: percuss thenar eminence and watch for involun-

tary thumb flexion.

Extra points

r Cataracts r Cardiomyopathy, brady- and tachy-arrhythmias (look for pacemaker scar) r Diabetes (ask to dip urine) r Testicular atrophy r Dysphagia (ask about swallowing)

Discussion Inheritance

r Autosomal dominant r Onset in 20s r Genetic anticipation: worsening severity of the condition and earlier

age of presentation with progressive generations. Due to expansion of tri-nucleotide repeat sequences within the DMPK gene on chromosome 19. Anticipation also occurs in Huntington’s chorea (autosomal dominant) and Friedreich’s ataxia (autosomal recessive).

Management

r Weakness is major problem – no treatment r Phenytoin may help myotonia r Advise against general anaesthetic (high risk of respiratory/cardiac compli-

cations)


Common causes of ptosis Bilateral Myotonic dystrophy Myasthenia gravis Congenital

Unilateral Third nerve palsy Horner’s syndrome

86


Cerebellar syndrome This 37-year-old woman has noticed increasing problems with her coordination. Please examine her and suggest a diagnosis. Clinical signs Brief conversation Outstretched arms Movements: Upper limbs

Scanning dysarthria Rebound phenomenon Finger–nose incoordination Hypotonia Nystagmus Heel–shin Wide-based gait

Eyes Lower limbs

Dysdiadochokinesis Hyporeflexia Foot tapping

Extra points

r Direction of nystagmus: clue to the site of the lesion

R

L

Cerebellar lesion The fast-phase direction is TOWARDS the side of the lesion, and is maximal on looking TOWARDS the lesion.

Fast Vestibular nucleus/VIII nerve lesion phase The fast-phase direction is AWAY FROM Slow the side of the lesion, and is maximal phase on looking AWAY FROM the lesion. In this case the nystagmus could be The direction of the fast phase due to a cerebellar lesion on the LEFT determines the direction of or a vestibular nucleus lesion on the the nystagmus. RIGHT. r Cerebellar vermis lesions produce an ataxic trunk and gait but the limbs

are normal when tested on the bed

r Cerebellar lobe lesions produce ipsilateral cerebellar signs in the limbs

Discussion Mnemonic for signs Dysdiadochokinesis Ataxia Nystagmus Intention tremor Scanning dysarthria Hypotonia/hyporeflexia


And causes Paraneoplastic cerebellar syndrome Alcoholic cerebellar degeneration Sclerosis (MS) Tumour (posterior fossa SOL) Rare (Friedrich’s and ataxia telangiectasia) Iatrogenic (phenytoin toxicity) Endocrine (hypothyroidism) Stroke (brain stem vascular event)

Aetiological clues

r Internuclear opthalmoplegia, spasticity, r r r r r

female, younger age Optic atrophy Clubbing, tar-stained fingers, radiotherapy burn Stigmata of liver disease, unkempt appearance Neuropathy Gingival hypertrophy

MS MS and Friedrich’s ataxia Bronchial carcinoma EtOH EtOH and Friedrich’s ataxia Phenytoin

88


Multiple sclerosis This 30-year-old woman complains of double vision and incoordination with previous episodes of weakness. Please perform a neurological examination. Clinical signs

r Inspection: ataxic handshake and wheelchair r Cranial nerves: internuclear ophthalmoplegia (frequently bilateral in MS),

optic atrophy, reduced visual acuity, and any other cranial nerve palsy

Internuclear ophthalmoplegia R

L

Left frontal gaze centre On looking to the right, the right eye abducts normally but the left eye is unable to adduct. The right eye has nystagmus.

III Midbrain PPRF Pons Medial longitudinal fasciculus lesion

VI

Both eyes look to the left normally.

R

Both eyes converge normally.

Brain stem L

r Peripheral nervous system: Upper-motor neurone spasticity, weakness,

brisk reflexes and altered sensation

r Cerebellar: ‘DANISH’ (see cerebellar syndrome section)

Extra points

r Higher mental function: depression, occasionally euphoria r Autonomic: urinary retention/incontinence, impotence and bowel prob-

lems Uthoff’s phenomenon: worsening of symptoms after a hot bath or exercise Lhermitte’s sign: lightening pains down the spine on neck flexion due to cervical cord plaques


Discussion Diagnostic criteria Central nervous system demyelination (plaques) causing neurological impairment that is disseminated in both time and space.

Cause Unknown, but both genetic – (HLA-DR2, interleukin-2 and -7 receptors) and environmental factors (increasing incidence with increasing latitude, association with Epstein–Barr virus infection) appear to play a role.

Investigation: clinical diagnosis plus

r CSF: oligoclonal IgG bands r MRI: periventricular white matter plaques r Visual evoked potentials (VEPs): delayed velocity but normal amplitude

(evidence of previous optic neuritis)

Treatment Multidisciplinary approach Nurse, physiotherapist, occupational therapist, social worker and physician.

Disease modifying treatments

r Interferon-beta and Glatiramer reduce relapse rate but don’t affect pro-

gression.

r Monoclonal antibody therapy potentially offers greater benefits; reducing

disease progression and accumulated disability, e.g. Alemtuzumab (antiCD52) – lymphocyte depletion, Natalizumab (anti-␣4 integrin) – blocks T-cell trafficking, Rituximab (anti-CD20) – B-cell depletion. Toxicity may limit their use.

Symptomatic treatments

r Methyl-prednisolone during the acute phase may shorten the duration of

the ‘attack’ but does not affect the prognosis.

r Anti-spasmodics, e.g. Baclofen. r Carbamazepine (for neuropathic pain). r Laxatives and intermittent catheterization/oxybutynin for bowel and blad-

der disturbance.

Prognosis Variable: The majority will remain ambulant at 10 years.

Impairment, disability and handicap

r Arm paralysis is the impairment r Inability to write is the disability r Subsequent inability to work as an accountant is the handicap

Occupational therapy aims to help minimize the disability and abolish the handicap of arm paresis.

90


Stroke Examine this patient’s limbs neurologically and then proceed to examine anything else that you feel is important.

Clinical signs

r Inspection: walking aides, nasogastric tube or PEG tube, posture (flexed

upper limbs and extended lower limbs), wasted or oedematous on affected side. r Tone: spastic rigidity, ‘clasp knife’ (resistance to movement, then sudden release). Ankles may demonstrate clonus (>4 beats). r Power: reduced. MRC graded: 0, none 1, flicker 2, moves with gravity neutralized 3, moves against gravity 4, reduced power against resistance 5, normal Extensors are usually weaker than flexors in the upper limbs and vice versa in the lower limbs. r Coordination: reduced often due to weakness (but can be seen in posterior circulation strokes) r Reflexes: brisk with extensor plantars

Offer to

r Walk the patient if they are able to, to demonstrate the flexed posture of

the upper limb and ‘tip toeing’ of the lower limb.

r Test sensation (this is tricky and should be avoided if possible!). Proprio-

ception is important for rehabilitation.

Extra points

r Upper motor neurone unilateral facial weakness (spares frontalis due to its

dual innervation).

r Gag reflex and swallow to minimize aspiration. r Visual fields and higher cortical functions, e.g. neglect helps determine a

Bamford classification.

r Cause: irregular pulse (AF), blood pressure, cardiac murmurs or carotid

bruits (anterior circulation stroke).


Discussion Definitions

r Stroke: rapid onset, focal neurological deficit due to a vascular lesion

lasting > 24 hours.

r Transient ischaemic attack (TIA): focal neurological deficit lasting < 24

hours.

Investigation

r Bloods: FBC, ESR (young CVA may be due to arteritis), glucose and renal

function

r ECG: AF or previous infarction r CXR: cardiomegaly or aspiration r CT head: infarct or bleed, territory r Consider echocardiogram, carotid Doppler, MRI/A/V (dissection or venous

sinus thrombosis in young patient), clotting screen (thrombophilia)

Management Acute

r Aspirin r Second stroke on aspirin: add clopidogrel or persantin or warfarinize r Referral to a specialist stroke unit: multidisciplinary approach: physio-

therapy, occupational therapy, speech and language therapy and specialist stroke rehabilitation nurses r DVT prophylaxis r Thrombolysis if 70% stenosis of the ipsilateral internal carotid artery)

r Anticoagulation for cardiac thromboembolism r Address cardiovascular risk factors r Nursing +/− social care.

Bamford classification of stroke (Lancet 1991) Total anterior circulation stroke (TACS)

r Hemiplegia (contra-lateral to the lesion) r Homonomous hemianopia (contra-lateral to the lesion) r Higher cortical dysfunction, e.g. dysphasia, dyspraxia and neglect

Partial anterior circulation (PACS) r 2/3 of the above


92

Lacunar (LACS)

r Pure hemi-motor or sensory loss

Prognosis at 1 year (%) TACS 60 35 5

Dead Dependent Independent

PACS 15 30 55

LACS 10 30 60

Dominant parietal-lobe cortical signs

r Dysphasia: receptive, expressive or global r Gerstmann’s syndrome r Dysgraphia, dyslexia and dyscalculia r L-R disorientation r Finger agnosia

Non-dominant parietal-lobe signs r Dressing and constructional apraxia r Spatial neglect

Either

r Sensory and visual inattention r Astereognosis r Graphaesthesia

Visual field defects T

N N

1

T

T

Optic nerve

N

N

T

1

Unilateral field loss

2

Bitemporal hemianopia

3

Homonymous hemianopia

4

Upper homonymous quadrantinopia Temporal lobe lesion

5

Lower homonymous quadrantinopia Parietal lobe lesion

Optic chiasm 2

3 LGN 5

L

4 Optic radiation

R

L

R


Spastic legs Examine this man’s lower limbs neurologically. He has had difficulty in walking. Clinical signs

r Wheelchair and walking sticks (disuse atrophy and contractures may be

present if chronic)

r Increased tone and ankle clonus r Generalized weakness r Hyper-reflexia and extensor plantars r Gait: ‘scissoring’

Extra points

r Examine for a sensory level suggestive of a spinal lesion r Look at the back for scars or spinal deformity

r Search for features of multiple sclerosis, e.g. cerebellar signs, fundoscopy

for optic atrophy

r Ask about bladder symptoms and note the presence or absence of urinary

catheter. Offer to test anal tone

Discussion Common causes

r Multiple sclerosis r Spinal cord compression/cervical myelopathy r Trauma r Motor neurone disease (no sensory signs)

Other causes

r Anterior spinal artery thrombosis: dissociated sensory loss with preserva-

tion of dorsal columns

r Syringomyelia: with typical upper limb signs r Hereditary spastic paraplegia: stiffness exceeds weakness, positive family

history

r Subacute combined degeneration of the cord: absent reflexes with upgo-

ing plantars

r Friedreich’s ataxia r Parasagittal falx meningioma

Cord compression

r Medical emergency


94

r Causes: r Disc prolapse (above L1/2) r Malignancy r Infection: abscess or TB r Trauma: # vertebra

r Investigation of choice: spinal MRI r Treatment: r Urgent surgical decompression r Consider steroids and radiotherapy (for a malignant cause)

Lumbo-sacral root levels L 2/3 L 3/4 L 4/5 L 5/S 1

Hip flexion Knee extension Foot dorsi-flexion Knee flexion Hip extension Foot plantar-flexion

S 1/2

Knee jerk L 3/4

Ankle jerk S 1/2

Lower limb dermatomes

L1 L2

S3,4 L5

S2

L3

Lower limb dermatomes Hints: L3 (knee) L4 (to the floor medially) S2, 3, 4 (keeps the faeces off the floor!)

Right leg

L4

S1

S1 L5

L5 Anterior

Posterior


Syringomyelia Examine this patient’s upper limbs neurologically. He has been complaining of numb hands. Clinical signs

r Weakness and wasting of small muscles of the hand r Loss of reflexes in the upper limbs r Dissociated sensory loss in upper limbs and chest: loss of pain and tem-

perature sensation (spinothalamic) with preservation of joint position and vibration sense (dorsal columns) r Scars from painless burns r Charcot joints: elbow and shoulder

Extra points

r Pyramidal weakness in lower limbs with upgoing (extensor) plantars r Kyphoscoliosis is common

r Horner’s syndrome (see Ophthalmology section) r If syrinx extends into brain stem (syringobulbia) there may be cerebellar

and lower cranial nerve signs

Discussion

r Syringomyelia is caused by a progressively expanding fluid filled cavity

(syrinx) within the cervical cord, typically spanning several levels. Syrinx expands ventrally affecting: 1 Decussating spinothalamic neurones producing segmental pain and temperature loss at the level of the syrinx.

Dorsal

4

2 Anterior horn cells producing segmental lower motor neurone weakness at the level of the syrinx.

3

1

2

Ventral

3 Corticospinal tract producing upper motor neurone weakness below the level of the syrinx. It usually spares the dorsal columns 4 (proprioception).

r The signs may be asymmetrical. r Frequently associated with an Arnold–Chiari malformation and spina

bifida.

r Investigation = spinal MRI.


96

Charcot’s joint (neuropathic arthropathy)

r Painless deformity and destruction of a joint with new bone formation

following repeated minor trauma secondary to loss of pain sensation.

r The most important causes are: r Tabes dorsalis: hip and knee r Diabetes: ankle

r Syringomyelia: elbow and shoulder r Treatment: bisphosphonates can help

Cervical roots C 5/6 C 7/8 T1

Elbow flexion and supination Elbow extension Finger adduction

Biceps and supinator jerks C 5/6 Triceps jerk C 7/8

Upper limb dermatomes

C5

T2

Upper limb dermatomes

Right arm

T1

Hints: C6 thumb C7 middle finger C8 little finger

C8 C6

C6

C8 C7

C7

Palmar

Dorsal


Motor neurone disease This man complains of gradually increasing weakness. Please examine him neurologically. Clinical signs

r Inspection: wasting and fasciculation r Tone: usually spastic but can be flaccid r Power: weak r Reflexes: absent and/or brisk. (Absent knee jerk with extensor plantar

reflexes.)

r Sensory examination is normal

Extra points

r Speech: dysarthria may be bulbar (nasal, ‘Donald Duck’ speech, due to

palatal weakness) or pseudo-bulbar (‘hot potato’ speech, due to a spastic tongue). r Tongue: wasting and fasciculation (bulbar) or a stiff spastic tongue with brisk jaw jerk (pseudo-bulbar). r There is no sensory, extra-ocular muscle, cerebellar or extra-pyramidal involvement. Sphincter and cognitive disturbance occasionally seen.

Discussion

r MND is a progressive disease of unknown aetiology r There is axonal degeneration of upper and lower motor neurones

Motor neurone disease may be classified into three types, although there is often some overlap: r Amyotrophic lateral sclerosis (50%): affecting the cortico-spinal tracts predominantly producing spastic paraparesis or tetraparesis. r Progressive muscular atrophy (25%): affecting anterior horn cells predominantly producing wasting, fasciculation and weakness. Best prognosis. r Progressive bulbar palsy (25%): affecting lower cranial nerves and suprabulbar nuclei producing speech and swallow problems. Worst prognosis.

Investigation

r Clinical diagnosis r EMG: fasciculation r MRI (brain and spine): excludes the main differential diagnoses of cervical

cord compression and myelopathy and brain stem lesions

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Treatment

r Supportive, e.g. PEG feeding and NIPPV r Multidisciplinary approach to care

r Riluzole (glutamate antagonist): slows disease progression by an average

of 3 months but does not improve function or quality of life and is costly

Prognosis

r Most die within 3 years of diagnosis from bronchopneumonia and respi-

ratory failure. Some disease variants may survive longer.

r Worst if elderly at onset, female and with bulbar involvement.

Causes of generalized wasting of hand muscles r Anterior horn cell r MND r Syringomyelia

r Cervical cord compression r Polio

r Brachial plexus r Cervical rib r Pancoast’s tumour

r Trauma r Peripheral nerve r Combined median and ulnar nerve lesions r Peripheral neuropathy r Muscle r Disuse atrophy, e.g. rheumatoid arthritis

Fasciculation

r Visible muscle twitching at rest r Cause: axonal loss results in the surviving axons recruiting and innervating

more myofibrils than usual resulting in large motor units

r Seen commonly in MND and syringomyelia


Parkinson’s disease This man complains of a persistent tremor. Examine him neurologically. Clinical signs

r Expressionless face with an absence of spontaneous movements. r Coarse, pill-rolling, 3–5 Hz tremor. Characteristically asymmetrical. r Bradykinesia (demonstrated by asking patient to repeatedly oppose each

digit onto thumb in quick succession).

r Cogwheel rigidity at wrists (enhanced by synkinesis – simultaneous

movement of the other limb (tap opposite hand on knee, or wave arm up and down)). r Gait is shuffling and festinant. Absence of arm swinging – often asymmetrical. r Speech is slow, faint and monotonous.

Extra points

r BP looking for evidence of multisystem atrophy: Parkinsonism with pos-

tural hypotension, cerebellar and pyramidal signs.

r Test vertical eye movements (up and down) for evidence of progressive

supranuclear palsy.

r Dementia and Parkinsonism: Lewy-body dementia. r Ask for a medication history.

Discussion Causes of Parkinsonism Parkinson’s disease (idiopathic) Parkinson plus syndromes: Multisystem atrophy (Shy–Drager) Progressive supranuclear palsy (Steel–Richardson–Olszewski) Corticobasal degeneration; unilateral Parkinsonian signs Drug-induced, particularly phenothiazines Anoxic brain damage Post-encephalitis MPTP toxicity (‘frozen addict syndrome’)

Pathology

r Degeneration of the dopaminergic neurones between the substantia nigra

and basal ganglia.

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Treatment

r L-Dopa with a peripheral Dopa-decarboxylase inhibitor, e.g. Madopar/

r

r r r r r

co-beneldopa: r Problems with nausea and dyskinesia r Effects wear off after a few years so generally delay treatment as long as possible r End-of-dose effect and on/off motor fluctuation may be reduced by modified release preparations Dopamine agonists, e.g. Pergolide: r Use in younger patients: less side effects (nausea and hallucinations) and save L-Dopa until necessary r Apomorpine (also dopamine agonist) given as an SC injection or infusion; rescue therapy for patients with severe ‘off’ periods MAO-B inhibitor, e.g. Selegiline, inhibit the breakdown of dopamine Anti-cholinergics, can reduce tremor, particularly drug-induced COMT inhibitors, e.g. Entacapone, inhibit peripheral breakdown of L-Dopa thus reducing motor fluctuations Amantadine, increases dopamine release Surgery, thalamotomy, pallidotomy, deep brain stimulation and foetal neural transplantation

Causes of tremor

r Resting tremor: Parkinson’s disease r Postural tremor (worse with arms outstretched): r Benign essential tremor (50% familial) improves with EtOH r Anxiety r Thyrotoxicosis r Metabolic: CO and hepatic encephalopathy 2 r Alcohol

r Intention tremor: seen in cerebellar disease


Hereditary sensory motor neuropathy This man complains of progressive weakness and a change in the appearance of his legs. Please examine him neurologically. Clinical signs

r Wasting of distal lower limb muscles with preservation of the thigh muscle

bulk (inverted champagne bottle appearance)

r Pes cavus (seen also in Friedreich’s ataxia) r Weakness of ankle dorsi-flexion and toe extension r Variable degree of stocking distribution sensory loss (usually mild)

Extra points

r Gait is high stepping (due to foot drop) and stamping (absent propriocep-

tion)

r Wasting of hand muscles r Palpable lateral popliteal nerve

Discussion

r The commonest HSMN types are I (demyelinating) and II (axonal). r Autosomal dominant inheritance. r HSMN is also known as Charcot–Marie–Tooth disease and peroneal mus-

cular atrophy.

Other causes of peripheral neuropathy Predominantly sensory r Diabetes mellitus r Alcohol r Drugs, e.g. isoniazid and vincristine r Vitamin deficiency, e.g. B and B 12 1

Predominantly motor

r Guillain–Barre´ and botulism present acutely r Lead toxicity r Porphyria r HSMN

Mononeuritis multiplex

r Diabetes mellitus r Connective tissue disease, e.g. SLE and rheumatoid arthritis r Vasculitis, e.g. polyarteritis nodosa and Churg–Strauss r Infection, e.g. HIV r Malignancy

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Friedreich’s ataxia Examine this young man’s neurological system. Clinical signs

r Young adult, wheelchair (or ataxic gait) r Pes cavus r Bilateral cerebellar ataxia (ataxic hand shake + other arm signs, dysarthria,

nystagmus)

r Leg wasting with absent reflexes and bilateral upgoing plantars r Posterior column signs (loss of vibration and joint position sense)

Extra points

r Kyphoscoliosis r Optic atrophy (30%) r High-arched palate r Sensorineural deafness (10%) r Listen for murmur of HOCM r Ask to dip urine (10% develop diabetes)

Discussion

r Inheritance is usually autosomal recessive r Onset is during teenage years

r Survival rarely exceeds 20 years from diagnosis r There is an association with HOCM and a mild dementia

Causes of extensor plantars with absent knee jerks r Friedreich’s ataxia r Subacute combined degeneration of the cord r Motor neurone disease r Taboparesis

r Conus medullaris lesions r Combined upper and lower pathology, e.g. cervical spondylosis with

peripheral neuropathy


Facial nerve palsy Examine this patient’s cranial nerves. What is wrong? Clinical signs

r Unilateral facial droop, absent nasolabial fold and forehead creases r Inability to raise the eyebrows (frontalis), screw the eyes up (orbicularis

oculi) or smile (orbicularis oris) Bell’s phenomenon: eyeball rolls upwards on attempted eye closure.

Extra points Level of the lesion

r Pons r MS and stroke r Cerebellar-pontine angle r Tumour, e.g. acoustic neuroma r Auditory/facial canal r Cholesteatoma and abscess

r Neck and face r Tumour and trauma

+VI palsy and long tract signs +V, VI, VIII and cerebellar signs +VIII + scars or parotid mass

Discussion Commonest cause is Bell’s palsy

r Rapid onset (1–2 days) r HSV-1 has been implicated r Induced swelling and compression of the nerve within the facial canal

causes demyelination and temporary conduction block

r Treatment: prednisolone commenced within 72 hours of onset improves

outcomes, plus valacyclovir if severe

r Remember eye protection r Prognosis: 70–80% make a full recovery; substantial minority have persis-

tent facial weakness

Other causes of a VII nerve palsy

r Herpes zoster (Ramsay–Hunt syndrome) r Mononeuropathy due to diabetes, sarcoidosis or Lyme disease r Tumour/trauma r MS/stroke

Causes of bilateral facial palsy r Guillain–Barre´ r Sarcoidosis r Lyme disease

r Myasthenia gravis r Bilateral Bell’s palsy

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Myasthenia gravis Examine this patient’s cranial nerves. She has been suffering with double vision. Clinical signs

r Bilateral ptosis (worse on sustained upward gaze) r Complicated bilateral extra-ocular muscle palsies r Myasthenic snarl (on attempting to smile) r Nasal speech, palatal weakness and poor swallow (bulbar involvement)

Extra points

r Demonstrate proximal muscle weakness in the upper limbs and fatigua-

bility. The reflexes are normal

r Look for sternotomy scars (thymectomy) r State that you would like to assess respiratory muscle function (FVC)

Discussion

r Associations: other autoimmune diseases, e.g. diabetes mellitus, rheuma-

toid arthritis, thyrotoxicosis, SLE and thymomas

r Cause: Anti-nicotinic acetylcholine receptor (anti-AChR) antibodies affect

motor end-plate neurotransmission

Investigations Diagnostic tests

r Anti-AChR antibodies positive in 90% of cases r Anti-MuSK (muscle-specific kinase) antibodies often positive if anti-AChR

negative

r EMG: decremented response to a titanic train of impulses r Edrophonium (Tensilon) test: an acetylcholine esterase inhibitor increases

the concentration of ACh at the motor end plate and hence improves the muscle weakness. Can cause heart block and even asystole.

Other tests

r CT or MRI of the mediastinum (thymoma in 10%) r TFTs (Grave’s present in 5%)

Treatments Acute

r IV immunoglobulin or plasmapheresis


Chronic

r Acetylcholine esterase inhibitor, e.g. pyridostigmine r Immunosuppression: steroids and azathioprine

r Thymectomy is beneficial even if the patient does not have a thymoma

(usually young females)

Lambert–Eaton myasthenic syndrome (LEMS)

r Diminished reflexes that become brisker after exercise r Lower limb girdle weakness (unlike myasthenia gravis) r Associated with malignancy, e.g. small-cell lung cancer r Antibodies block pre-synaptic calcium channels r EMG shows a ‘second wind’ phenomenon on repetitive stimulation

Causes of bilateral extra-ocular palsies

r Myasthenia gravis r Graves’ disease r Mitochondrial cytopathies, e.g. Kearns–Sayre syndrome r Miller–Fisher variant of Guillain–Barre´ syndrome r Cavernous sinus pathology

Causes of bilateral ptosis r Congenital r Senile

r Myasthenia gravis r Myotonic dystrophy r Mitochondrial cytopathies, e.g. Kearns–Sayre syndrome r Bilateral Horner’s syndrome

Station 4 Ethics, Law and Communication Skills

ETHICS AND LAW IN MEDICINE Principles of medical ethics Most ethical dilemmas can be resolved, at least in part, by considering the four cornerstones of any ethical argument, namely autonomy, beneficence, non-maleficence and justice. r Autonomy ‘self-rule’: respecting and following the patient’s decisions in the management of their condition. r Beneficence: promoting what is in the patient’s best interests. r Non-maleficence: avoiding harm. r Justice: doing what is good for the population as a whole. Distributing resources fairly. There is often not a right or wrong answer to tricky ethical problems but this framework enables informed discussion.

Example

r PEG feeding a semi-conscious patient post-CVA:

Autonomy: the patient wishes to be fed, or not. Beneficence and non-maleficence: feeding may improve nutritional status and aid recovery, but with risks of complication from the insertion of the PEG tube and subsequent aspiration. Also, the patient’s poor quality of life may be lengthened. Justice: heavy resource burden looking after PEG-fed patients in nursing homes.

Medico-legal system The legal system of England and Wales (Scottish legal system is different) is defined by Common (Case) Law and Statute (Acts of Parliament) Law Cases for PACES, 2nd edition. By S. Hoole, A. Fry, D. Hodson & R. Davies. Published 2010 by Blackwell Publishing.

Ethics, Law and Communication Skills 107

and may be subdivided into Public (Criminal) Law and Private (Civil) Law. Court decisions follow judicial precedent – they follow judgements that have gone before. Medical malpractice is commonly a breach of the Law of Tort (part of Civil Law) and the most important of these are negligence and battery (a part of the tort of trespass). The judge must decide, on the balance of probabilities (rather than beyond reasonable doubt – Criminal law) whether the defendant(s) (doctor and hospital NHS Trust) are liable and whether the Claimant is due compensation.

Negligence This is the commonest reason for a doctor to go to court. Claimants need to prove: 1 The doctor had a duty of care: r Doctors (unless they are GPs in their geographical practice) are not legally obliged to act as ‘Good Samaratans’ (although morally they may be) 2 There was a breach of the appropriate standard of care: r The Bolam test: the doctor is not negligent if he or she acted in accordance with a responsible/reasonable/respectable body of medical opinion (even if that opinion is in the minority) r The Bolitho test: the opinion must also withstand logical analysis 3 The breach of the duty of care caused harm

Competency and consent In accepting a patient’s autonomy to determine the course of management the clinician must be satisfied that the patient is competent. If this is not the case, the doctor should act in the patient’s best interests. Consent is only valid when the individual is competent (or in legal terms, ‘has capacity’). r A patient is not incompetent because they act against their best interests. r Capacity is not a global term but is specific to each decision, i.e. a patient may be competent to make a will but at the same time incompetent to consent to treatment. r A clinician does not have to prove beyond all reasonable doubt that a patient has capacity, only that the balance of probability favours capacity.

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Ethics, Law and Communication Skills

r The three stages in assessing capacity are: r Comprehension and retention of information needed to make the deci-

sion

r Ability to believe the information, i.e. no delusion r Ability to weigh the information and make a decision

r Patients under 16 years of age can consent to treatment if they are deemed

‘Gillick competent’, i.e. are deemed mature enough to understand the implications of their actions. However, refusal of consent to treatment may be overridden by a parent or a court, if it is in the child’s best interest.

Legal aspects A competent patient Every human being of adult years and of sound mind has a right to determine what shall be done to his or her own body. r Assault is a threat or an attempt to physically injure another, whereas

battery is actual (direct or indirect) physical contact or injury without consent. They are usually civil rather criminal offenses. r Implied consent: if a patient goes to hospital and holds out their arm to allow a medical practitioner to take their pulse – written or verbal consent is not necessary. r Consent documentation: If a patient does not receive certain relevant information when consented for a procedure a doctor may be found negligent. It is advisable to tell the patient of all potential serious complications and those with an incidence of at least 1%. A signed consent form is not legally binding – patients may withdraw consent at any time. It is not illegal to operate without a consent form (as long as verbal or implied consent has been obtained). However, it provides admissible evidence that consent has been obtained.

An incompetent patient A doctor, by acting in the patient’s best interests, can treat a patient against their will under common law. r Proxy consent: a relative cannot consent on behalf of an incompetent patient, under common law. However, there is provision under the Mental Capacity Act 2005 for a patient to nominate a personal welfare Lasting Power of Attorney (LPA) whilst competent to make limited health care decisions on their behalf, if they were to lose capacity. The remit of the LPA must be clearly stated in a legal document. An LPA cannot consent to, or


refuse treatment for a mental health disorder. If health care staff believes that the LPA is not acting in the patient’s best interest (especially if they are refusing life saving treatment), they may ignore the LPA whilst disputes are resolved. r Advanced directives (living wills): a patient makes a written statement on their wishes for future medical care before they lose capacity. This is usually an advanced decision to refuse treatment (ADRT). Health care providers are not obliged to provide clinically inappropriate medical care (including cardiopulmonary resuscitation), even if requested to do so by a patient. A doctor who treats a patient in the face of an ADRT could be liable in battery under common law. However, a doctor must be sure of the patient’s intentions if the refusal of treatment is substantially against the patient’s best interest. Advance care planning (ACP) led by a dedicated case manager can facilitate successful implementation of an ADRT by providing a sound contextual framework to inform care providers. The courts will accept advanced directives if it can be shown that: r The patient was competent at the time it was drafted r The patient was free from undue influence r The patient was sufficiently informed r The patient’s refusal applies to the subsequent circumstances r Ward of court: a doctor may apply to a judge to make medical decisions on behalf of the patient. This is advisable if it is not clear what the correct course of management should be and there is opposition from colleagues or relatives against the intended treatment. The Mental Health Act 1983 can only be evoked to treat psychiatric illness in non-consenting patients. Section 5(2): emergency doctor’s holding power r Applied by one physician on an in-patient to enable a psychiatric assess-

ment to be made

r 72 hours duration r Good practice to convert this to a Section 2 or 3

Section 2: admission for assessment order r Applied by two written medical recommendations (usually a psychiatrist

and a GP) and an approved social worker or relative, on a patient in the community r 28 days duration

110


r May be converted to a Section 3 r The patient has a right of appeal to a tribunal within 14 days of detention

Section 3: admission for treatment order r Applied as in a Section 2 on a patient already diagnosed with a mental

disorder

r months duration then reviewed

Section 4: emergency admission to hospital order r Applied by one doctor (usually a GP) and an approved social worker or

relative

r Urgent necessity is demonstrable r May be converted to a Section 2 or 3

Confidentiality Confidentiality is an implied contract necessary for a successful doctor– patient relationship. Without it, a patient’s autonomy and privacy is compromised, trust is lost and the relationship weakened.

GMC Guidelines (Confidentiality : Protecting and Providing Information , September 2000, Section 1 – Patients’ right to confidentiality, Paragraph 1)

Patients have the right to expect that doctors will not disclose any personal information which they learn during the course of their professional duties, unless they give permission (preferably in writing). Without assurances about confidentiality patients may be reluctant to give doctors the information they need to provide good care.

Legal aspects

r Patients usually complain to the GMC rather than sue if there has been a

breach of confidentiality.

r Under common law doctors are legally obliged to maintain confidentiality

although this obligation is not absolute.

Ethics, Law and Communication Skills 111 r Maintenance of confidentiality is a public not a private interest – it is in

the public’s interest to be able to trust a doctor. Therefore, breaching confidentiality is a question of balancing public interests. r Doctors have discretion to breach confidentiality when another party may be at serious risk of harm, e.g. an epileptic who continues to drive (the GMC advises doctors to inform the DVLA medical officer) or an HIVpositive patient who refuses to tell their sexual partner. They may also share information within the medical team. r Doctors must breach confidentiality to the relevant authorities in the following situations: r Notifiable diseases r Drug addiction r Abortion r In vitro fertilization r Organ transplant r Births and deaths r Police request r Search warrant signed by a circuit judge r Court order r Prevention, apprehension or prosecution of terrorists perpetrators of serious crime

How to do it No breach of confidentiality has occurred if a patient gives consent or the patient cannot be identified. If consent is not given to disclose information but a physician deems that a breach in confidentiality is necessary, the patient should be notified of the reason for disclosure, the content, to whom the disclosure has been made and the likely consequence for the patient. The GMC provides guidelines on when confidentiality may be breached, which do not have the force of the law but are taken seriously by the courts. These guidelines may be consulted at: www.gmc-uk.org.

The Human Rights Act 1998 Article 8: the right to respect for his or her private life r It is unclear if this will influence court decisions on issues of confidentiality.

112


End of life decisions This is a contentious area and medical opinion is diverse.

Sanctity of life The view that whenever possible human life should be maintained, could be argued as ethically unjustified if extending that life results in suffering (non-maleficence) and if trivial life extension occurs at enormous monetary expense ( justice).

Killing versus letting die In the former, the doctor actively causes the patient’s death, in the latter the patient’s illness causes death, i.e. ‘nature takes its course’ whilst the doctor is passive. However, some disagree stating the decision to act or to omit to act are both ‘active’ choices, which may make it more difficult to morally justify.

Withholding versus withdrawing treatment Although it may be easier to withhold treatment, rather than to withdraw that which has been started already, there are no legal or necessarily moral distinctions between the two. Withdrawing treatment is considered in law to be a passive act and not killing.

Example A hospital trust was granted permission from the House of Lords to discontinue artificial hydration and nutrition in a young patient in a persistent vegetative state (Airedale NHS Trust v Bland, 1993). This case established the equivalence of withholding and withdrawing care and that the basic provisions of food and water are classified as medical treatments that could be withdrawn.

Doctrine of double effect This is a moral argument that distinguishes actions that are intended to harm versus those where harm is foreseen but not intended.

Example The administration of large doses of morphine intended to palliate a patient with a terminal illness may have the foreseen consequence of respiratory arrest and subsequent death. It is morally and legally acceptable though because the primary aim was to alleviate pain, not cause death.

Do-not-attempt resuscitation (DNAR) orders English law does not require doctors to prescribe futile treatments, even if requested to do so by the patient. Therefore, a DNAR order is an example of withholding treatment that is futile. Other reasons for DNAR may include


the patient’s sustained wish or when the evaluation of the outcome is not deemed to be worthwhile, i.e. worse than death. Doctors should make a decision as to whether to inform the patient of this decision. It may be inhumane and distressing to raise issues of this nature with terminally ill patients.

Euthanasia Euthanasia is intentional killing, i.e. murder under English law and therefore illegal. Assisted suicide, i.e. helping someone take their own life, is also a criminal offence.

Arguments for

r Respecting a patient’s autonomy over their body r Beneficence, i.e. ‘mercy killing’, may prevent suffering r Suicide is legal but is unavailable to the disabled

Arguments against

r Good palliative care obviates the need for euthanasia r Risk of manipulation/coercion/exploitation of the vulnerable r Undesirable practices will occur when constraints on killing are loosened

(‘slippery-slope’ argument)

Legal aspects The Human Rights Act 1998 Article 2: the Right to life r Life is protected by law and physicians have a positive obligation to protect

life

Examples

r Breast cancer patients threaten to take PCTs to the High Court when denied

Herceptin, as it infringed Article 2 of the Human Rights Act.

r Physicians may be challenged when withdrawing/withholding life saving

treatment, e.g. persistent vegetative state and PEG feeding. A recent judgment set a precedent that this did not constitute a breach of Article 2. It could be argued that any futile treatment is a breach of Article 3.

Article 3: the Prohibition of torture r The prevention of inhumane and degrading treatment

Example

r A patient suffering from motor neuron disease claimed through Article 3

that making assisted suicide illegal infringed her human rights (Pretty v UK,

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2002). The European Court of Human Rights upheld the House of Lords decision that assisted suicide was a criminal offence (Section 2 of Suicide Act, 1961).

Communication skills Breaking bad news If done well this can help the patient come to terms with their illness and minimize psychological distress. There are no hard and fast rules, but a patient-centred approach often helps.

How to do it

r Choose a setting that is private and free from disturbance (give your bleep

to someone else). Have enough time to do it properly.

r Invite other health care workers, e.g. a nurse, for support and to ensure

continuity of information given by all the team.

r Offer the opportunity for relatives to attend if the patient wishes. This

r r r r r

r r

r

is useful for patient support and can help the dissemination of information. Introduce yourself and the purpose of the discussion. Check the patient’s existing awareness and gauge how much they want to be told. Give the bad news clearly and simply. Avoid medical jargon. Avoid information overload. Avoid ‘loose terminology’ that may be misinterpreted. Pause and acknowledge distress. Wait for the patient to guide the conversation and explore their concerns as they arise. If you are unsure as to exact treatment options available, inform the patient that their case is going to be discussed at an MDT (be it cancer or other disease group) and a decision made at that meeting as to best care. Arrange to meet them immediately after this meeting. Recap what has been discussed and check understanding. Bring the discussion to a close but offer an opportunity to speak again and elicit the help of other groups, e.g. specialist cancer nurses or societies, to help the patient at this difficult time. Enquire how the patient is planning on getting home. If distressed, advise them that they should not drive. Offer to ring a relative to collect them or to arrange a taxi home.

Other problems

r Denial: If a patient is in denial reiterate the key message that needs to

be addressed. Confront the inconsistencies in their perceptions and if this


does not work, acknowledge their denial in a sensitive way. It may be better to leave this to a later date, perhaps when the patient is ready to confront the painful reality. r Anger: This is a natural and usually transient part of the grieving process. ‘Shooting the messenger’ can occur occasionally, particularly if the news is delivered poorly. Acknowledge their anger and empathize with their plight. If this does not diffuse the situation, terminate the session and reconvene later. r ‘How long have I got?’: Answer in broad terms: hours–days, days–weeks, etc. Explore why the patient wants to know.

Dealing with a difficult patient How to do it An angry patient

r Listen without interruption and let them voice their anger r Keep calm and do not raise your voice r Acknowledge they are angry and try to explore why

r Empathize r Apologize if there has been an error r If they feel they wish to take matters further then advise them of the trust’s

complaints procedure

A non-compliant patient

r Explore why they have not taken their medication. Were the side effects

bothering them? Was the drug not working?

r Educate the patient. Perhaps they were not aware how important it was

to take the tablets.

r Offer solutions. Direct supervision of treatment, e.g. anti-tuberculosis treat-

ment. Try alternative therapies.

A self-discharging patient

r Explain why you do not want them to leave. r If they are competent they may leave but do so at their own risk and

against medical advice. To attempt to stop them is assault.

r If they are incompetent, they can be detained by reasonable force, acting

in their best interests under common law. To let them go is negligent. However, if in attempting to detain such a person there is risk of serious injury to the patient or those restraining the patient, then you may have no alternative but to let them go.

116


r Patients with smear positive TB (AFBs present in sputum) can be detained,

but not treated, under the Public Health Act.

A patient that continues to drive despite contraindication Although it is the duty of the patient (not the doctor) to declare a disability that precludes him or her from holding a UK driving licence, it is one of the acknowledged circumstances (stated by the GMC) under which a breach of confidentiality may be justified. r Try and persuade the patient to inform the DVLA. Mention lack of insurance cover if they drive and safety issues to themselves and other road users. r Ask them to provide written evidence that they have informed the DVLA if you suspect they have not. r Inform the patient that you will write to the DVLA if they fail to do so. r Write to the DVLA if no evidence is forthcoming and to the patient to inform them you have done so.

Driving restrictions Disease First seizure

ACS

Stroke/TIA IDDM

Private vehicle licence 1 year if fit free/medical review 6 months during treatment changes 1 month if untreated 1 week if treated with stent and normal LV 1 month if no persistent deficit Notify DVLA may drive if no visual impairment and aware of hypoglycaemia

HGV/PSV licence 10 years if fit free off medication

6 weeks if symptom free and no inducible ischaemia 1 year if no persistent deficit Banned

Any illness where the doctor feels that the patient’s ability to drive is significantly impaired should be referred to the DVLA for further action and the patient is told not to drive in the mean time.

Other issues to address

r Explore the impact on the patient’s job and lifestyle. r How is the patient going to get home from your clinic?

For full guidelines: http://www.dvla.gov.uk/medical/ataglance.aspx


Information delivery Communication skills are frequently assessed by the candidate’s ability to inform the patient about their medical condition.

How to do it

r Introduce yourself and establish the reason for the discussion. r Assess the patient’s level of knowledge. r Give the information required in simple language avoiding medical

jargon.

r Facilitate questions and answer them, but avoid digressing too much. r Formulate a plan of action with the patient. r Reiterate your discussion with the patient to ensure understanding. r Offer further information sources, e.g. leaflets, societies or groups. r Organize appropriate follow-up. r Close the interview.

Tips

r Read the case scenario carefully and structure your interview in 5 minutes

beforehand.

r This is a role-play station so use your imagination. r If you are asked a question by the patient and you do not know the answer,

say that you are unable to answer at present but you will find out next time (as you would in real life!). r Be aware of possible legal and ethical facets to the case and pre-empt the examiners by tackling them in the case before the discussion. r Body language speaks volumes.

Worked examples Epilepsy An 18-year-old woman who is trying to become a professional model has had her second grand mal seizure in 3 months, which was witnessed by her GP. She has had a normal CT head and metabolic causes have been excluded. She has returned to your outpatient clinic for the results. Please discuss the diagnosis with her.

Points to discuss

r The diagnosis is epilepsy. Explain what this means to the patient in lay

terms: disorganized electrical activity in the brain (see ‘Information delivery’ section).

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r Explore social aspects: r She has been drinking a lot of alcohol recently and staying out late at all

night parties.

r She drives to modelling agencies and relies heavily on her car. r She hates taking tablets.

r Discuss treatment options to limit her seizure activity: r Avoid excess alcohol and sleep deprivation. r Avoid precipitants, e.g. flashing disco lights.

r

r r r

r

Drugs: there are some newer anti-epileptic medications, e.g. lamotrigine, that have fewer side effects. This is important to her as she is a model! Stress compliance (if poor compliance see ‘Dealing with a difficult patient’ section): r It is imperative that if she is on the oral contraceptive combined pill, she is told the risks of pill failure. This is important, as anti-epileptics are teratogenic. Advise alternative forms of contraception, e.g. barrier or if this is unacceptable switch to a higher dose oestrogen pill or progesterone pill. r If she wants to become pregnant, it is a balance of risk between a seizure when pregnant, which carries a significant risk of miscarriage and the potential teratogenic side effects of the drugs. Most physicians encourage female patients wishing to start a family to continue on their epileptic treatment. Remember folate supplements! Safety issues r Avoid swimming or bathing alone and heights. r Driving restrictions (if she continues to drive see ‘Dealing with a difficult patient’ and ‘Breaking confidentiality’ sections). Recap the important points and formulate an agreed plan. Check understanding and answer her questions. Other information: offer leaflets, British Epilepsy Society (www.epilepsy. org.uk), contact numbers and an appointment with epilepsy specialist nurse. Conclude the interview.

Huntington’s chorea A 26-year-old son of your patient has requested to see you, to discuss his mother’s diagnosis. She has developed a dementing illness and chorea in her late forties. Her father committed suicide at the age of 60. A diagnosis of Huntington’s chorea has been made on genetic testing. She currently lives in her own home but is not coping. She has also asked her son to help her die. Discuss the relevant issues with her son. He is ‘trying for a family’.


Points to discuss

r Ascertain that his mother has consented to this discussion to avoid the

r

r

r r

r r r

r r

confidentiality pitfall, and a rather short interview! Remember if the mother is your patient and the son is not, you only have a duty of care to the mother. If she does not want you to discuss the diagnosis with her son, then to do so would breach confidentiality. Explain Huntington’s chorea and its inheritance to the son (see ‘Information delivery’ and ‘Breaking bad news’ sections). Emphasize that there is no cure and management is supportive. How the diagnosis relates to him and his family. Anticipation, i.e. if he is affected the onset may be at an earlier age. Genetic screening and family planning. Prenatal screening. This would involve abortion – briefly explore this with the patient. Life insurance and employment implications. How the diagnosis relates to his mother. Social aspects: community care or nursing home placement plans. Legal aspects: advanced directives, power of attorney and ward of court may be discussed (see ‘Consent and competency’ section). Assisted suicide is illegal (see ‘End of life decisions’ section). Recap and formulate an agreed plan. Check understanding and answer questions. Other information: offer leaflets, Huntington’s society contact numbers and an appointment with a geneticist. An appointment with a social worker would be useful to organize residential care for his mother. Arrange follow-up ideally with all the family as it affects all of them. Conclude the interview.

Paracetamol overdose A patient arrives in the emergency medical unit having taken 50 paracetamol tablets 4 hours ago. She says she wants to die and does not want to be treated although she would like painkillers for her abdominal pain. Negotiate a treatment plan with this patient.

Points to discuss

r Be clear on the amount of paracetamol taken and the time of ingestion as

this will influence the management, i.e. calculating the treatment level of paracetamol. r Alcoholism or anti-epileptic medication lowers the treatment line. r Assess the suicidal intent, e.g. letter. r Previous psychiatric history.

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r Negotiate an agreed treatment plan if possible. r Organize a referral to the deliberate self-harm team. r Recap and check understanding. r Conclude the interview.

Treatment debate

r Competency: r Does she understand that this overdose is life-threatening and what the

treatment involves?

r Is the paracetamol overdose affecting her judgment? r Is a psychiatric illness affecting her judgment, e.g. delusional?

r If deemed incompetent then you must act in her best interests and treat

her against her will under common law.

r If competent she has a right to refuse treatment.

If you do not treat and the patient dies, you may have to defend this decision in court. If you treat her in the face of her wishes, you could be charged with battery. Most courts will not find physicians that act in the patient’s best interests guilty. r Implied consent: May be invoked to defend treatment of a patient that arrives in hospital having taken an overdose but they may have been taken there against their will, or they may have attended hospital to palliate their symptoms. r Advanced directives: Notes stating they do not wish to be treated may be ignored, because the attending physician often cannot be sure of the circumstances in which it was written, e.g. under duress, or that the patient has not changed her mind. r The Mental Health Act cannot be invoked to treat overdose patients, even if they have depression. r Attempted suicide is no longer illegal in the UK. Assisting someone to commit suicide is illegal. If in doubt it is prudent to treat overdose patients under common law, acting in their best interests. It may be advisable to seek legal advice.

Brain stem death and organ donation You are working in intensive care and you have recently admitted a 30-year-old man who was hit by a car. He has sustained a severe head injury and his second assessment of brain stem tests show he is brain stem dead. You have found an organ donor card in his wallet. Please discuss the diagnosis with his mother and father and broach the subject of organ donation with them.


Points to discuss Brain stem death

r Explain that he has had a severe brain injury and that he is brain dead (see

‘Breaking bad news’ section).

r Inform them about brain death. r ‘He has died and only the ventilator is keeping his other organs

working’.

r Pause for reflection and questions.

Organ donation

r Broach in a sensitive way: ‘I know this is a very difficult time for you both

but did you know that your son carried a donor card?’

r Points that can be addressed may include: r The need for an operation to ‘harvest’ the organs. r HIV testing prior to donation. r Not all the organs taken may be used.

r Time delays involved prior to the certification of death and the release

of the body.

r Avoid information overload and be guided by the relative’s questions and

the time available.

r Offer to put them in touch with the transplant coordinator for the

region. They will be able to counsel them further.

r Remind them that a decision has to be made swiftly but avoid harassing

the relatives unduly (offer to come back when they have had a chance to think about it). Being too involved in the transplantation program may be ethically wrong for an ITU physician, due to potentially conflicting interests. A donor card is sufficient legal authority to proceed (advanced directive although the signature is not witnessed). However, it is good practice to assess the relatives’ wishes and few centres would proceed if the relatives did not assent to organ donation. r Recap and formulate a plan. r Check understanding at each stage and answer their questions. r Offer other information: leaflet on transplantation. r Conclude the interview.

Brain stem death and organ donation As in this case, discussion with a coroner must occur prior to organ donation if it is a coroner’s case. Permission may be withheld if a death is due to a criminal action.

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Human Tissue Act (1961) and Human Organ Transplant Act (1989) Statute law defining codes of practice on organ retrieval, consent and diagnostic tests of brain death. To establish brain stem death two consultants assess independently that: r The cause of death is known and all potentially treatable causes for the patient’s state have been excluded, e.g. hypothermia, biochemical derangement and drugs, i.e. the unconscious state is irreversible and permanent. r The brain stem reflexes, e.g. pupil, corneal, motor cranial nerve responses, vestibulo-ocular, gag and cough reflexes are absent and there is no spontaneous respiratory drive at a PaCO2 > 50 mm Hg. All organs are usually harvested with minimum warm ischaemic time, i.e. with a beating heart up to the moment of harvesting (except corneas); hence, these difficult discussions need to be addressed early. r Contraindications: infections, e.g. HIV and prion disease; metastatic tumours; severe atherosclerosis. r Be aware of the introduction of ‘non-heart beating organ donation’. For further information see GMC guidelines at www.gmc-uk.org.

Non-compliant diabetic An 18-year-old female insulin-dependent diabetic has been admitted with yet another ketoacidotic episode. She has family problems. You notice she is very thin and has lanugo hair on her face. Please counsel her regarding her poor diabetic control and weight loss.

Points to discuss

r Diabetic education: r Review insulin regimen, injection sites and compliance (may be non-

compliant due to weight gain or family problems).

r Educate about the importance of tight glycaemic control and the dangers

of diabetic ketoacidosis.

r Ask about other cardiovascular risk factors, e.g. smoking.

r Dieting and anorexia nervosa: r Emphasize the importance of a balanced diet and diabetic control. r Explore her dietary intake. r Ask her about her weight, body image and self-esteem. r Assess for depression (associated with anorexia).

Ethics, Law and Communication Skills 123 r Family problems: r Explore these and counsel. Patients suffering from anorexia often have

r r r r

problems at home. Family therapy can be useful in treating anorexia nervosa. Recap and formulate a plan. Check understanding and answer questions. Offer other information: leaflets and Anorexia Nervosa Society. Conclude the interview.

Legal issues

r Competency: due to the effects of malnutrition on cognition, an anorexic

patient may not be competent to refuse treatment.

r Anorexia nervosa can be treated under the Mental Health Act (1983) as

an outpatient or in severe cases on a specialist unit.

r Food is deemed a treatment for a mental illness and can be given against

the patient’s will under the Mental Health Act.

Sample questions Information delivery

r This 60-year-old man is about to leave hospital, 7 days after an uncompli-

r

r

r

r

cated MI. He has some concerns regarding his return to normal life. What advice would you give him regarding his condition? A 23-year-old newly-diagnosed asthmatic has been recently discharged from hospital and arrives in your outpatient clinic for a review of his illness. He works as a veterinary nurse and smokes 15 cigarettes per day. Educate him about his illness, arrange further tests and instigate a treatment plan. A 32-year-old woman has been recently diagnosed with multiple sclerosis following a second episode of optic neuritis. Discuss her diagnosis, prognosis and likely treatment options. A 29-year-old man with a 14-year history of ulcerative colitis treated with steroids and ciclosporin has come to your follow-up clinic. He is concerned with some of the side effects he has been having on his medication. Address this and counsel him in the further management of his condition. A 50-year-old heavy smoker presents with his fifth exacerbation of COPD this year. He tells you he does not take his inhalers because he thinks they make him worse. His blood gas on air reads a PaO2 of 6.8. Discuss treatment options with him.

Communicating medico-legal and ethical principles

r A patient with metastatic breast carcinoma attends your clinic. She has

read on the Internet that there is a new treatment that might be helpful.

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r

r

r

r


Unfortunately, your trust has decided not to fund this treatment at present. Counsel her on these matters. A patient’s relatives arrive to be told that their father was unfortunately ‘dead-on-arrival’ to hospital. It is likely he suffered a large myocardial infarction. Break this bad news to them and guide them with regard to the need for a coroner’s post-mortem. For religious reasons they would like the body released today. A 90-year-old woman who has recently had a debilitating stroke is classified as ‘do not attempt resuscitation’. Her daughter has found out that this decision has been made without her consent and demands that her mother be for resuscitation. Discuss the management of this patient with the daughter. A patient with motor neurone disease who is now wheelchair-bound has come to your clinic. She believes she is a burden to her family and wants your advice regarding the best way to end her own life. Please counsel her. A 24-year-old doctor has come to your clinic. She has recently been on elective to Africa where she sustained a needle stick injury. Initial tests show she is hepatitis C positive. She is reluctant to stop working. Please counsel her.

Station 5 Brief Clinical Consultations

Introduction The format of Station 5 changed in 2009 to include brief clinical consultations. The candidate will be assessed on their ability to extract a focused history from a patient and perform a targeted examination that clearly demonstrates the salient features of a case. Each will take 10 minutes including time for discussion. This is aimed to reflect actual daily clinical practice in a busy medical admission unit (MAU) or out-patient department. Geriatric medicine and acute medicine cases will now be assessed. To prepare for this new station, candidates are encouraged to spend a period of time in a busy MAU and/or out-patient department to hone their clinical skills. Here we present 10 clinical histories/examinations outlined in the clinical referral, including the key questions or clinical signs pertinent to the diagnosis and the common differential diagnoses. There follows a short discussion. Be prepared to justify your approach to the examiners – we have tried to do so!

Chest pain This 54-year-old male smoker has chest pain . . . Diagnosis: myocardial ischaemia Differential diagnosis: pleuritic (PE), musculoskeletal, oeosophageal reflux/spasm

History Symptoms

r Character: dull ache, band-like and tightness r Position/radiation: substernal into arm/jaw

Cases for PACES, 2nd edition. By S. Hoole, A. Fry, D. Hodson & R. Davies. Published 2010 by Blackwell Publishing.

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Brief Clinical Consultations

r Exacerbating and relieving factors: r ↑ heavy meals, cold, exertion and emotional stress r ↓ rest and/or sublingual GTN (although may relieve oesophageal spasm

as well)

r Associated symptoms: nausea, sweating and breathlessness

Risk factors

r Smoking, diabetes, family history, cholesterol, ↑BP, age and ethnic origin

(South Asian)

Differential diagnosis

r Productive cough (pleuritic), heavy lifting (musculoskeletal), history of pep-

tic ulcers/acid brash especially when supine (oesophageal)

Other

r Profession: LGV and PCV licence holders should notify the DVLA and stop

driving

r Contraindications to antiplatelet agents/anticoagulants/thrombolysis r PVD – femoral access for angiography r Varicose veins – surgical conduits for grafting

Examination Diagnosis

r Unilateral crackles, bronchial breathing, rub – pleurisy r Focal tenderness and swelling over costochondral joints – Tietze’s syn-

drome

r Epigastric tenderness – peptic ulcer

Cause

r Tar-stained fingers (smoking), xanthelasma (cholesterol), anaemia, hyper-

thyroidism, weight and height (BMI)

Complications

r Cardiogenic shock: pulse and BP r Aortic dissection: peripheral pulses r VSD/MR: pan-systolic murmur r Heart failure: bibasal crackles

Other

r Contraindications to exercise stress testing: r Severe aortic stenosis and uncontrolled hypertension r Femoral pulse palpable for angiography

Brief Clinical Consultations 127

Discussion Initial investigations

r Acute: 12-lead ECG and CXR, troponin, FBC, creatinine (eGFR), fasting

lipid profile and glucose

Emergency treatment

r Antithrombotic/antiplatelet: aspirin, clopidogrel, LMWH-/UFH; GpIIb/IIIa in-

hibitor if high risk (TIMI risk score ≥ 4)

r Antianginal: GTN and beta-blocker r Risk modifiers: statin and ACE inhibitors r Coronary angiography (if troponin positive): r Angioplasty and stent r Surgery: CABG

r Further investigations (if troponin negative): r Functional tests to confirm ischaemia: exercise stress test, MIBI scan and

stress echo

TIMI risk score r Age > 65 r > 3 risk factors r Known CAD r Taking aspirin on admission r Severe angina (refractory to medication) r Troponin elevation r ST depression > 1 mm

Point 1 1 1 1 1 1 1

Headache This university student has a headache and skin rash . . . Diagnosis: bacterial meningitis Differential diagnosis: subarachnoid haemorrhage and migraine

History Symptoms

r Meningitis: r Meningism: neck stiffness, headache and photophobia r Nausea and vomiting

r Focal neurological deficit, constitutional symptoms of infection, rash

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Risk factors

r Meningitis: immunosuppressed, close meningitis contact and foreign travel r Subarachnoid haemorrhage: hypertension r Migraine: triggers, e.g. stress, tiredness, chocolate and red wine


r Subarachnoid haemorrhage: sudden onset, severe ‘thunderclap’ head-

ache, may be preceded by ‘warning’ sentinel headaches

r Migraine: The mnemonic POUNDing headache (Pulsating, duration of

4–72 hOurs, Unilateral, Nausea, Disabling). May have aura, e.g. scintillating scotoma or focal neurological deficits in 30%

Other

r Allergies to penicillin


r Neck stiffness r Photophobia on fundoscopy r Kernig’s sign: hip flexion and knee: flexion→extension is painful and re-

sisted (avoid causing pain in the exam!)

r Fever

Cause

r Meningococcal meningitis: petechial rash indicates associated septicaemia

Complications

r Septic shock: pulse and BP r Cerebral abscess:

r Localizing signs: upper limb: pronator drift; lower limb: extensor plantar;

cranial nerve palsy

r Cerebral oedema/increasing intracranial pressure: r Reduced GCS, unilateral dilated pupil (third nerve palsy) and papil-

loedema


r Blood culture r Lumbar puncture: r Will need head CT to exclude raised intracranial pressure if localizing

signs or altered conscious state

Brief Clinical Consultations 129 r Send CSF sample for MC + S, glucose (with blood glucose) and protein: r Bacterial: low glucose, high protein, neutrophils and gram + cocci r Viral: normal glucose and protein, mononuclear cells

r Differentiate bloody tap from subarachnoid haemorrhage by assessing

xanthochromia (bilirubin from degraded RBCs turn CSF yellow)

Treatment

r Do not delay antibiotics: r Penicillin: high dose, intravenous immediately if diagnosis is suspected r Meningitis is a notifiable disease: r Treat close contacts

Swollen calf This obese woman has a swollen leg . . . Diagnosis: deep vein thrombosis Differential diagnosis: ruptured Baker’s cyst and cellulitis

History Symptoms

r Unilateral swollen and tender calf

Risk factors

r Medical conditions, e.g. active cancer or heart failure (prothrombotic

states)

r Immobility, e.g. flight, surgery (especially orthopaedic), stroke etc. r Previous personal or family history of DVT or PE r Oral contraceptive use in women


r Previous knee trauma or joint problem

Complications

r Pleuritic chest pain or breathlessness consistent with PE

Other

r Contraindications to warfarin

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r Calf swelling (10 cm below the tibial tuberosity) >3 cm difference r Superficial venous engorgement and pitting oedema

Cause

r Examine abdomen and pelvis (exclude mass compressing veins)

Complications

r Thrombophlebitis: local tenderness and erythema r Pulmonary embolus: pleural rub and right heart failure

Other

r Peripheral pulses for compression stockings

Discussion Investigations

r D-dimer (sensitive but not specific test – can rule out diagnosis if negative

in low/intermediate risk cases)

r Doppler/compression ultrasound if D-dimer elevated

Treatment

r Anticoagulation 3 months (6 weeks if below knee and surgically provoked,

lifelong if persistent high risk)

r Compression stockings reduce post-phlebitic syndrome

Altered conscious state This male with diabetes mellitus has been found in a drowsy and confused state . . . Diagnosis: diabetic ketoacidosis Differential diagnosis: meningitis and alcohol/drug intoxication

History Symptoms

r Polyuria and polydipsia r Preceding acute illness/fever r Recent high BMs/increased insulin requirement r Associated symptoms: nausea, sweating and breathlessness

Brief Clinical Consultations 131

Risk factors

r Poor compliance with insulin – young, change in social circumstances


r Smelling of alcohol (take care not ketotic), history of drug abuse r Alcohol and drug history


r Hyperventilation or Kussmaul’s breathing – acidosis r Medic alert bracelet/finger prick marks – diabetes

Precipitating factors

r 4 I’s – Insulin forgotten, Infection, Infarction and Injury

Complications

r Haemodynamic compromise: pulse and BP r Aspiration: r Gastroparesis due to diabetic autonomic neuropathy r Severe acidosis (metabolic)


r Finger-prick BM r Urine dipstick for ketones r ABG:

r Metabolic acidosis with respiratory compensation (↓PaCO ) 2 r Montitor acidosis with venous bicarbonate

r FBC, U&E, LFT and glucose r ECG (silent MI) r Blood and urine cultures (sepsis) r CXR (pneumonia or aspiration)

Treatment

r ABC: r May require ITU support r Fluid resuscitation: crystalloid: r Consider K+ supplementation r IV Insulin sliding scale until BM 20 mm Hg drop in systolic BP is significant


r Sepsis screen: urine, blood cultures and CXR r If fall and altered conscious state/confusion consider CT head: r Subdural haematoma: atrophic brain

Management

r Stop unnecessary poly-pharmacy and rationalize drug treatments r Antibiotics r MDT case conference: nurse, social worker, OT and physiotherapy: r Stick/frame r Home improvements or residential care r Resuscitation decision

Persistent fever Please assess this young man with fever and malaise for the last 3 months . . . Diagnosis: infection (endocarditis) Differential diagnosis: drug induced, malignancy (lymphoma) and inflammatory disease

History

r Temporal pattern: r Fever at night – malaria

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r Contacts: r TB r SH:

r Foreign travel: r Malarial regions r Sexual:

r HIV risk r Drug abuse: r Endocarditis and HIV risk r Psychiatric history/stress (factitious): r Medical professional

r DH: r After change in medication (drug induced) r Malignant hyperpyrexia syndrome: r Antipsychotic medication

r Associated with muscle pain r Allergies to antibiotic and antibiotic history

r Weight loss (malignancy): r Painless lymphadenopathy (lymphoma and HIV) r Smoker, breathlessness and chest pain (lung) r Altered bowel habit (colon)

Examination

r Look for needle tracks r Lymphadenopathy r CVS:

r Murmur: endocarditis: r Splinter haemorrhages (fingers), Roth spots (fundoscopy)

r Abdominal examination: r Craggy liver or mass (malignancy) r Splenomegaly (infection, inflammatory and malignancy) r Dip the urine: haematuria (endocarditis) r Joints, skin and eyes: r Inflammatory conditions


r Septic screen: r Blood including repeated thick and thin film (parasitaemia) r Urine, bone marrow aspirate and CSF r HIV testing

Brief Clinical Consultations 139 r CRP, ESR, autoantibodies, immunoglobulins and complement levels r CK (malignant hyperthermia) r TOE: vegetations, aortic root abscess and myxoma

Management

r Avoid early antibiotics until identification of the cause r Consider stopping all drugs and reinstituting them one-by-one

r Admit the patient and monitor them closely: r Fever that resolves during close observation may be factitious!

Dyspnoea Please assess this young woman with sudden onset breathlessness . . . Diagnosis: asthma Differential diagnosis: PE and pneumothorax

History Asthma

r Sudden onset wheeze, SOB and cough (non-productive) r Triggers r Allergy: r Pets, food, dust and pollen r Atopic: allergic rhinitis and eczema r Anaphylaxis r Allergy testing clinic

r Upper respiratory tract infection: r Sore throat, fever etc.

r Severity: r ITU admissions (brittle asthma): r Intubation risk r DH: r Compliance with preventor medication r Inhaler technique r EpiPen


r Pneumothorax: r Spontaneous in asthmatics r Permanent pacemaker or central line r Symptoms and risk factors for DVT causing PE


140

Examination Severity (does this patient need ITU?)

r Conscious level r Respiratory rate: r Count 1–10: how far do they get on one breath? r Pulse and blood pressure

Chest

r Expansion and percussion note increased bilaterally due to lung hyper-

expansion: r Unilateral (pneumothorax) r Polyphonic wheeze: r Silent chest is a sign of severity

Upper airway

r Stridor, angioedema and tongue swelling (anaphylaxis)

Skin

r Urticaria (anaphylaxis)


r Unilateral reduced air entry, reduced breath sounds and increased reso-

nance on percussion (pneumothorax): r Tracheal and/or apex beat deviation away (tension pneumothorax) r Calf swelling (DVT→PE)


r Arterial blood gas: r Hypoxaemia

r Normal or rising PaCO suggests a tiring patient requiring respiratory 2

support (should have a respiratory alkalosis)

r CXR in exhalation (pneumothorax)

Treatment

r Asthma: r Bronchodilators and steroids (not routine antibiotics as often viral) r Asthma specialist nurse: r Inhaler technique r Allergy clinic r Pneumothorax: r Needle aspiration or chest drain r May need talc or surgical pleurodesis if it is recurrent

Short Cases: Skin, Musculoskeletal, Eyes and Endocrine Psoriasis Examine this man’s skin and discuss the therapeutic options. Clinical signs Chronic plaque (classical) type r Multiple, well-demarcated plaques with a ‘salmon-pink’, scaly surface r Predilection for extensor surfaces r Nail involvement: r Pitting r Onycholysis r Hyperkeratosis r Discoloration r Also check behind ears, scalp and umbilicus

Extra points

r Koebner phenomenon: plaques at sites of trauma r Joint involvement r Skin staining from treatment (see below) r Other types of psoriasis:

r Guttate: multiple ‘drop-like’ lesions on trunk and limbs r Flexural (not scaly) r Palmo-plantar pustular psoriasis

Discussion Definition Epidermal hyperproliferation and accumulation of inflammatory cells.

Treatment Avoid precipitants (stress, alcohol, cigarettes and ␤-blockers) Topical (in- or outpatient) r Emollients r Controls scale r Calcipotriol r Vitamin D analogue r Safe, odourless and does not stain

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Short Cases: Skin, Musculoskeletal, Eyes and Endocrine

r Coal tar r Smelly, inconvenient (long contact time) and occasionally irritant r Stains brown r Dithranol r Stains purple and burns normal skin r Usually effective r Hydrocortisone

Phototherapy

r UVB r Psoralen + UVA (PUVA)

Systemic

r Cytotoxics r Methotrexate and ciclosporin r Highly effective, but have side effects r Anti-TNF

r Adalimumab (humira) – monoclonal antibody to TNF-␣ r Retinoids r Acitretin r Safe, but teratogenic

Complications

r Psoriatic arthropathy (10%)

Five forms of arthropathy: r DIP involvement (similar to OA) r Large joint mono/oligoarthritis r Seronegative (similar to RA) r Sacroilitis (similar to ankylosing spondylitis) r Arthritis mutilans r Erythroderma

Guttate psoriasis

r Associated with streptococcal throat infection r Resolves in 3 months

Causes of nail pitting r Psoriasis r Lichen planus r Alopecia areata

r Fungal infections

Short Cases: Skin, Musculoskeletal, Eyes and Endocrine 143

Koebner phenomenon seen with r Psoriasis r Lichen planus r Viral warts r Vitiligo r Sarcoid

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Eczema Examine this woman’s skin and discuss your treatment options. Clinical signs Chronic: r Erythematous and lichenified patches of skin r Predominantly flexor aspects of joints r Fissures (painful), especially hands and feet r Excoriations r Secondary bacterial infection

Extra points Differential diagnosis

r Exogenous r Primary irritant dermatitis: may just affect hands r Endogenous r Atopic (see above) r Discoid: well-demarcated patches on the trunk and limbs r Pompholyx: bullae on palms and soles r Seborrhoeic dermatitis


r History of atopy, e.g. asthma, hay fever and allergy r Patch testing

Treatment

r Avoid precipitants r Emollients

r Topical: r Steroids r Tacrolimus (protopic) – small increased risk of Bowen’s disease r Anti-histamines for pruritis r Antibiotics for secondary infection r UV light therapy r Systemic therapy (prednisolone) in severe cases


Leg ulcers Examine this man’s legs. Clinical signs Venous

r Painless r Gaiter area of lower leg r Stigmata of venous hypertension:

r Varicose veins or scars from vein stripping r Oedema r Lipodermatosclerosis r Varicose eczema r Atrophie blanche

Arterial

r Painful r Distal extremities and pressure points r Trophic changes: hairless and paper thin shiny skin r Cold with poor capillary refill r Absent distal pulses

Neuropathic

r Painless r Pressure areas, e.g. under the metatarsal heads r Peripheral neuropathy

Extra points Cause

r Venous: look for an abdominal/pelvic mass r Arterial: check for atrial fibrillation or cardiac murmur r Neuropathic: look for diabetic signs, Charcot’s joint

Complications

r Infection: temperature, pus and cellulites r Malignant change: Marjolin’s ulcer (squamous cell carcinoma)

Discussion Other causes

r Vasculitic, e.g. rheumatoid arthritis r Neoplastic, e.g. squamous cell carcinoma

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r Infectious, e.g. syphilis r Haematological, e.g. sickle-cell anaemia r Tropical, e.g. cutaneous leishmaniasis

Investigations Venous

r Doppler ultrasound of venous system

Arterial

r Ankle–brachial pressure index (0.8–1.2 is normal, 6 mm. Enlarging

Extra points

r Local invasion and distant metastasis (lymph nodes and/or hepatomegaly) r Other lesions

Discussion Diagnosis/treatment

r Excision r Staged on Breslow thickness (maximal depth of tumour invasion into

dermis): r 3.5 mm = 40% 5-year survival Beware the man with a glass eye and ascites: ocular melanoma!


Tuberous sclerosis Please examine this woman’s skin. What is the diagnosis? Clinical signs

r Facial (perinasal – butterfly distribution) adenoma sebaceum (angiofibro-

mata)

r Periungual fibromas (hands and feet) r Shagreen patch: roughened, leathery skin over the lumbar region r Ash leaf macules: depigmented macules on trunk (fluoresce with

UV/Wood’s light)

Extra points Respiratory

r Cystic lung disease

Abdominal

r Renal enlargement caused by polycystic kidneys (ADPKD and TS = Chr 16)

and/or renal angiomyolipomata

r Transplanted kidney r Dialysis fistulae

Eyes

r Retinal phakomas (dense white patches) in 50%

CNS

r Mental retardation may occur r Seizures

Signs of anti-epileptic treatment, e.g. phenytoin: gum hypertrophy and hirsuitism

Discussion

r Autosomal dominant (TSC1: Chr 9, TSC2: Chr 16), variable penetrance r 80% epileptic

Investigation

r Skull films: ‘railroad track’ calcification r CT/MRI head: tuberous masses in cerebral cortex. Often calcify r Echo and abdominal ultrasound: hamartomas and renal cysts

Previously known as EPILOIA EPIlepsy LOw Intelligence Adenoma sebaceum

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Neurofibromatosis Examine this patient’s skin. Clinical signs

r Cutaneous neurofibromas: two or more r Cafe´ au Lait patches: six or more, >15-mm diameter in adults r Axillary freckling r Lisch nodules: melanocytic hamartomas of the iris

Extra points

r Blood pressure: hypertension (associated with renal artery stenosis and

phaeochromocytoma)

r Examine the chest: fine crackles (honeycomb lung and fibrosis) r Neuropathy with enlarged palpable nerves r Visual acuity: optic glioma/compression

Discussion

r Inheritance is autosomal dominant r Type I (Chr 17) is the classical peripheral form r Type II (Chr 22) is central and presents with bilateral acoustic neuromas

and sensi-neural deafness rather than skin lesions

Associations

r Phaeochromocytoma (2%) r Renal artery stenosis (2%)

Complications

r Epilepsy r Sarcomatous change (5%) r Scoliosis (5%) r Mental retardation (10%)

Causes of enlarged nerves and peripheral neuropathy r Neurofibromatosis r Leprosy r Amyloidosis r Acromegaly r Refsum’s disease


Other skin problems Examine this patient’s skin. Pseudoxanthoma elasticum Clinical signs

r ‘Plucked chicken skin’ appearance: loose skin folds especially at the neck

and axillae, with yellow pseudoxanthomatous plaques

r Hyperextensible joints

Extra points Eyes

r Blue sclerae r Reduced visual acuity r Retinal angioid streaks (cracks in Bruch’s membrane) and macular degen-

eration

Cardiovascular

r Blood pressure: 50% are hypertensive r Mitral valve prolapse r CVA and/or CCF from atherosclerosis

Gastrointestinal r Gastric bleed

Discussion

r Inheritance: 80% autosomal recessive (ABCC6 gene – Chr 16) r Degenerative elastic fibres in skin, blood vessels and eye r Premature coronary artery disease

Ehlers–Danlos Clinical signs

r Fragile skin: multiple ecchymoses, scarring – ‘fish-mouth’ scars especially

on the knees

r Hyperextensible skin: able to tent up skin when pulled (avoid doing this) r Joint hypermobility and dislocation

Extra points

r Mitral valve prolapse r Abdominal scars: r Aneurysmal rupture and dissection r Bowel perforation and bleeding

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Discussion

r Inheritance: autosomal dominant r Defect in collagen causing increased skin elasticity r No premature coronary artery disease

Osler–Weber–Rendu (hereditary haemorrhagic telangiectasia) Clinical signs

r Multiple telangiectasia on the face, lips and buccal mucosa

Extra points

r Anaemia: gastrointestinal bleeding r Cyanosis and chest bruit: pulmonary vascular abnormality/shunt

Discussion

r Autosomal dominant r Increased risk gastrointestinal haemorrhage, epistaxis and haemoptysis r Vascular malformations: r Pulmonary shunts r Intracranial aneurysms: subarachnoid haemorrhage

Erythema nodosum Clinical signs

r Tender, red, smooth, shiny nodules commonly found on the shins (although

anywhere with subcutaneous fat)

r Older lesions leave a bruise

Extra points

r Associated fever, joint tenderness and swelling r Signs of a cause: r Red, sore throat (streptococcal infection) r Parotid swelling (sarcoidosis)

Discussion

r Pathology: inflammation of subcutaneous fat (panniculitis) r Associations: r Streptococcal infections r Sarcoidosis r Streptomycin r Also TB, IBD and lymphoma


Other skin manifestations of sarcoidosis r Nodules and papules: red/brown seen particularly around the face, nose, ears and neck. Demonstrates Koebner’s phenomenon r Lupus pernio: diffuse bluish/brown plaque with central small papules commonly affecting the nose

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Rheumatoid arthritis Examine this woman’s hands. Clinical signs

r Symmetrical and deforming polyarthropathy r Volar subluxation and ulnar deviation at the MCPJs r Subluxation at the wrist r Swan-neck deformity (hyperextension of the PIPJ and flexion of the DIPJ) r Boutonniere’s deformity (flexion of the PIPJ and hyperextension of the DIPJ) ` r ‘Z’ thumbs r Rheumatoid nodules (elbows) r Muscle wasting (disuse atrophy)

Assess disease activity

r Red, swollen, hot, painful hands imply active disease

Assess function

r Power grip: ‘Squeeze my fingers’ r Precision grip: ‘Pick up a coin’ or ‘Do up your buttons’ r Key grip: ‘Pretend to use this key’ r Remember the wheelchair, walking aids and splints

Extra points

r Exclude psoriatic arthropathy (main differential): r Nail changes r Psoriasis: elbows, behind ears, scalp and around the umbilicus r Surgical scars: r Carpal tunnel release (wrist) r Joint replacement (especially thumb) r Tendon transfer (dorsum of hand)

r Steroid side effects r C-spine stabilization scars r Systemic manifestations (see below)

Discussion Systemic manifestations of RA r Pulmonary: r Pleural effusions r Fibrosing alveolitis

Short Cases: Skin, Musculoskeletal, Eyes and Endocrine 157 r Obliterative bronchiolitis r Caplan’s nodules

r Eyes: r Dry (secondary Sjogren’s) ¨ r Scleritis r Neurological:

r Carpal tunnel syndrome (commonest) r Atlanto-axial subluxation: quadriplegia r Peripheral neuropathy

r Haematological: r Felty’s syndrome: RA + splenomegaly + neutropaenia r Anaemia (all types!) r Cardiac: r Pericarditis r Renal:

r Nephrotic syndrome (secondary amyloidosis or membraneous glomeru-

lonephritis, e.g. due to penicillamine)

Investigations

r Elevated inflammatory markers r Radiological changes: r Soft tissue swelling r Loss of joint space r Articular erosions r Periarticular osteoporosis

r Positive rheumatoid factor in 80%

Diagnosis – 4/7 of American College of Rheumatology criteria r Morning stiffness r Arthritis in 3+ joint areas r Arthritis of hands r Symmetrical arthritis

r Rheumatoid nodules r Positive rheumatoid factor

r Erosions on joint radiographs

Treatment

r Symptomatic relief: NSAIDs and COX-2 inhibitors r Early introduction of disease-modifying anti-rheumatoid drugs (DMARDs)

to suppress disease activity:

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Methotrexate Hydroxychloroquine Sulphasalazine Corticosteroids Azathioprine Gold complexes Penicillamine

Serious side effects Neutropenia, pulmonary toxicity and hepatitis Retinopathy Rash and bone marrow suppression Osteoporosis Neutropenia Thrombocytopaenia, rash Proteinuria, thrombocytopaenia rash

Monitor CXR, FBC, LFT Visual acuity FBC

FBC FBC FBC and urine

Ongoing disease activity requires step up in therapy including: Anti-TNF therapy: Infliximab/Etanercept/Adalimumab: r Side effects include rash, opportunistic infection (exclude TB: Heaf test and CXR) B cell depletion therapy: Rituximab (anti-CD20 mAb): r Explanation and education r Exercise and physiotherapy r Occupational therapy and social support r Surgery (joint replacement, tendon transfer, etc.)

Prognosis

r 5 years – 1/3 unable to work; 10 years – 1/2 significant disability


Systemic lupus erythematosus Please examine this woman’s skin and discuss your findings. Clinical signs Face

r Malar ‘butterfly’ rash r Photosensitivity r Discoid rash +/− scarring (discoid lupus) r Oral ulceration r Scarring alopecia r Anaemia

Hands

r Vasculitic lesions (nail-fold infarcts) r Raynaud’s phenomenon r Jaccoud’s arthropathy (mimics rheumatoid arthritis but due to tendon con-

tractures not joint destruction)

Elsewhere

r Livedo reticularis r Purpura

r Peripheral oedema (nephrotic syndrome)

Extra points

r Respiratory: r Pleural effusion r Pleural rub r Fibrosing alveolitis r Neurological: r Focal neurology r Chorea r Ataxia r Eyes: r Dry (Sjogren’s) ¨

r Renal: r Hypertension r Proteinuria and nephrotic syndrome

Discussion Diagnostic investigation

r Serum autoantibodies (ANA and anti-dsDNA)

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Disease activity

r Elevated ESR but normal CRP (raised CRP too indicates infection) r Elevated immunoglobulins r Reduced complement (C ) 4 r U&Es, urine microscopy (glomerulonephritis)

Diagnosis – 4/11 of American College of Rheumatology criteria r Malar rash r Discoid rash r Photosensitivity r Oral ulcers

r Arthritis r Serositis (pleuritis or pericarditis) r Renal involvement (proteinuria or cellular casts) r Neurological disorder (seizures or psychosis) r Haematological disorder (autoimmune haemolytic anaemia or pancy-

topenia)

r Immunological disorders (positive anti-dsDNA or anti-Sm antibodies) r Elevated titre of anti-nuclear antibody (ANA)

Treatment

r Mild disease (cutaneous/joint involvement only): r Topical corticosteroids

r Hydroxychloroquine r Moderate disease (+ other organ involvement): r Prednisolone r Azathioprine r Severe disease (+ severe inflammatory involvement of vital

organs): r Methylprednisolone r Mycophenolate mofetil (lupus nephritis) r Cyclophosphamide r Azathioprine

Cyclophosphamide side effects

r Haematological and Haemorrhagic cystitis r Infertility r Teratogenicity

Prognosis

r Good: 90% survival at 10 years


Systemic sclerosis Please examine this woman’s skin. Clinical signs Hands

r Sclerodactyly r Calcinosis (may ulcerate) r Raynaud’s phenomenon (Raynaud’s disease is idiopathic!)

Face

r Tight skin r Beaked nose

r Microstomia r Peri-oral furrowing r Telangiectasia r Alopecia

Other skin lesions

r Morphoea: focal/generalized patches of sclerotic skin r En coup de sabre (scar down central forehead) the disease (see below).

Extra points

r Blood pressure: r Hypertension r Respiratory:

r Interstitial fibrosis (fine and bibasal crackles) r Cardiac: r Pulmonary hypertension (RV heave, loud P and TR) 2 r Evidence of failure r Pericarditis (rub) r Raynaud’s (colour change order: white (vasoconstriction) → blue (cyanosis)

→ red (hyperaemia))

Discussion Classification

r Localized: morphea to patch of skin only r Systemic: limited and diffuse

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Limited systemic sclerosis r Distribution limited to below elbows and knees and face r Slow progression (years)

Diffuse systemic sclerosis r Widespread cutaneous and early visceral involvement r Rapid progression (months)

r Includes CREST:

Calcinosis Raynaud’s phenomenon Esophageal dysmotility Sclerodactyly Telangiectasia

Investigations

r Autoantibodies: r Anti-nuclear antibody positive (in 90%) r Anti-centromere antibody = limited (in 80%)

r Scl-70 antibody = diffuse (in 70%) r Hand radiographs: calcinosis r Pulmonary disease: lower lobe fibrosis and aspiration pneumonia: r CXR, high resolution CT scan and pulmonary function tests r Gastrointestinal disease: dysmotility and malabsorption r Contrast scans, FBC and B12/folate r Renal disease: glomerulonephritis r U&E, urinalysis, urine microscopy (casts) and consider renal biopsy r Cardiac disease: myocardial fibrosis and arrhythmias r ECG and ECHO

Treatment Symptomatic treatment only: r Camouflage creams r Raynaud’s therapy: r Gloves, hand-warmers, etc. r Calcium channel blockers r ACE inhibitors r Prostacyclin infusion (severe) r Renal: r ACE inhibitors: prevent hypertensive crisis and reduce the mortality from renal failure r Gastrointestinal: r Proton-pump inhibitor for oesophageal reflux

Prognosis Mean 5-year survival of diffuse systemic sclerosis is 50%. Most deaths are due to respiratory failure.


Ankylosing spondylitis Examine this patient’s posture and then proceed to demonstrate any other features of this disease. Clinical signs

r Question mark posture caused by fixed kyphoscoliosis and loss of lumbar

lordosis with extension of cervical spine

r Reduced range of movement throughout entire spine r Protuberant abdomen due to diaphragmatic breathing r Reduced chest expansion (5 cm)

r Schober’s ¨ test: Two points marked 15 cm apart on the dorsal spine expand

by less than 5 cm on maximum forward flexion

Extra points Complications you should look for: r Anterior uveitis (commonest 30%) r Apical lung fibrosis r Aortic regurgitation (4%) r Atrio-ventricular nodal heart block (10%) r Arthritis Remember psoriatic arthropathy may present in a very similar way so look for plaques.

Discussion Genetics

r 90% association with HLA B27

Treatment

r Physiotherapy r Analgesia r Anti-TNF

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Marfan’s syndrome Examine this man’s hands and then proceed to examine anything else that will help you make a diagnosis. Clinical signs General (spot diagnosis)

r Tall with long extremities (arm span > height)

Hands

r Arachnodactyly: can encircle their wrist with thumb and little finger r Hyperextensible joints: thumb able to touch ipsilateral wrist and adduct

over the palm with its tip visible at the ulnar boarder

Face

r High arched palate with crowded teeth r Iridodonesis (with upward lens dislocation)

Chest

r Pectus carinatum (‘pigeon’) or excavatum r Scoliosis r Scars from cardiac surgery

Extra points Cardiac

r Aortic incompetence: collapsing pulse r Mitral valve prolapse r Coarctation

Chest

r Pneumothorax: scars from chest drains

Abdominal

r Inguinal herniae and scars

CNS

r Normal IQ

Discussion Genetics

r Autosomal dominant and Chr 15 r Defect in fibrillin protein (connective tissue)


Management

r Surveillance: monitoring of aortic root size with annual transthoracic

echo

r Treatment: ␤-blockers and angiotensin receptor blocker to slow aortic

root dilatation and pre-emptive aortic root surgery to prevent dissection and aortic rupture r Screen family members


r Homocystinuria r Mental retardation and downward lens dislocation

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Paget’s disease Examine this man and discuss his diagnosis. Clinical signs

r Bony enlargement: skull and long bones (sabre tibia) r Deafness (conductive): hearing-aid r Pathological fractures: scars

Extra points

r Cardiac failure (high output): elevated JVP, ankle oedema and dyspnoea r Entrapment neuropathies: carpal tunnel syndrome r Optic atrophy and angioid streaks

Discussion Symptoms

r Usually asymptomatic r Bone pain and tenderness (2%)

Investigations

r Grossly elevated alkaline phosphatase, normal calcium and phosphate r Radiology: r ‘Moth-eaten’ appearance on plain films: osteoporosis circumscripta r Bone scans (↑ uptake).

Treatment

r Symptomatic: analgesia and hearing-aid r Bisphosphonates

Other complications

r Osteogenic sarcoma (1%) r Basilar invagination (cord compression) r Kidney stones

Causes of sabre tibia r Paget’s r Osteomalacia r Syphilis

Causes of angioid streaks r Paget’s r Pseudoxanthoma elasticum r Ehlers–Danlos


Other joint problems Examine this man’s hands. Tophaceous gout Clinical signs

r Asymmetrical swelling of the small joints of the hands and feet (commonly

first MTPJ)

r Gouty tophi (chalky white deposits) seen around the joints, ear and tendons r Reduced movement and function

Extra points

r Associations: r Obesity r Hypertension r Urate stones/nephropathy: nephrectomy scars r Cause: r Drug card: diuretics r Lymphadenopathy: lymphoproliferative disorder r Chronic renal failure: fistulae

Discussion Cause

r Urate excess

Investigation

r Uric acid levels (unreliable) r Synovial fluid: needle-shaped, negatively birefringent crystals r Radiograph features: ‘punched out’ periarticular changes

Treatment

r Acute attack: r Treat the cause

r Increase hydration r High dose NSAIDs r Colchicine and high fluid intake

r Prevention: r Avoid precipitants r Allopurinol (xanthine oxidase inhibitor)

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Osteoarthritis Clinical signs

r Elderly patient ± walking stick r Asymmetrical distal interphalangeal joint deformity with Heberden’s nodes

(and sometimes Bouchard’s nodes at the proximal interphalangeal joint)

r Disuse atrophy of hand muscles r Crepitation, reduced movement and function

Extra points

r Carpal tunnel syndrome or scars r Other joint involvement and joint replacement scars

Discussion Prevalence: 20% (common)

Radiographic features

r Loss of joint space r Osteophytes r Peri-articular sclerosis and cysts

Treatment

r Simple analgesia r Weight reduction (if OA affects weight bearing joint) r Physiotherapy and occupational therapy r Joint replacement


Diabetic retinopathy This patient has had difficulty with his or her vision. Please examine his or her eyes. Clinical signs

r Look around for clues – a white stick, braille book or glucometer r Fundoscopy: check for red reflex (absent if cataract or vitreous haemor-

rhage) Tip: find the disc (inferonasally) then follow each of the four main vessels out to the periphery of the quadrants and finish by examining the macular ‘look at the light’.

Extra points

r Check for coexisting hypertensive changes (they always ask!)

Discussion Screening

r 40 years old or more than 10 years since diagnosis: annual

Test acuity, fundoscopy and retinal photography/fluoroscein angiography r Background retinopathy usually occurs 10–20 years after diabetes is diagnosed r Young type I diabetics often get proliferative retinopathy whereas older type II diabetics tend to get exudative maculopathy

Treatment Tight glycaemic control

r Lower blood sugar (HbA < 7.5%) is associated with less retinopathy 1c r There may be a transient worsening of the retinopathy initially

Treat other risk factors

r Hypertension; hypercholesterolaemia; smoking cessation

Photocoagulation indications

r Maculopathy r Proliferative and pre-proliferative diabetic retinopathy


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Background retinopathy

1

1 Hard exudates 2 Blot haemorrhages 3 Microaneurysms Routine referral to eye clinic.

3 2

Pre-proliferative retinopathy

5

4

Background changes plus 4 Cotton wool spots 5 Flame haemorrhages Also venous beading and loops and IRMAs (intraretinal microvascular abnormalities). Urgent referral to ophthalmology.

Proliferative retinopathy

6

Pre-proliferative changes plus 6 Neovascularization of the disc (NVD) and elsewhere 7 Panretinal photocoagulation scars (treatment) Urgent referral to ophthalmology.

7

Diabetic maculopathy Macular oedema or hard exudates within one disc space of the fovea. Treated with focal photocoagulation. Urgent referral to ophthalmology.


Pan-retinal photocoagulation prevents the ischaemic retinal cells secreting angiogenesis factors causing neovascularization. Focal photocoagulation targets problem vessels at risk of bleeding. Accelerated deterioration occurs in poor diabetic control, hypertension and pregnancy.

Complications of proliferative diabetic retinopathy r Vitreous haemorrhage (may require vitrectomy) r Traction retinal detachment r Neovascular glaucoma due to rubeosis iridis

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Hypertensive retinopathy Examine this patient’s fundus. Clinical signs Vein 2 4

3 1 5

1 Silver wiring 2 AV nipping 3 Flame haemorrhages 4 Cotton wool spots 5 Papilloedema Grade 4 hypertensive retinopathy

Artery

Grade 1: silver wiring (increased reflectance from thickened arterioles). Grade 2: plus AV nipping (narrowing of veins as arterioles cross them). Grade 3: plus cotton wool spots and flame haemorrhages. Grade 4: plus papilloedema. There may also be hard exudates (macular star).

Extra points Causes

r Essential 94%: age, obesity, salt and alcohol r Renal 4%: renal bruit or enlarged kidneys r Endocrine 1%: acromegaly, Cushing’s or phaeochromocytoma r Coarctation: radio-femoral delay r Eclampsia: pregnancy

Discussion Malignant hypertension r Medical emergency

Treatment

r Grade III and IV retinopathy and hypertension

Oral anti-hypertensives and non-invasive blood pressure monitoring.

r Plus encephalopathy/stroke/myocardial infarction/left ventricular failure.

Parenteral venodilators and invasive blood pressure monitoring. Over-rapid fall in blood pressure can lead to ‘watershed’ cerebral and retinal infarction.


Papilloedema Blurring of disc margins/elevation of disc/loss of venous pulsation/venous engorgement.

Causes

r Raised intracranial pressure: space occupying lesion, benign intracranial

hypertension and cavernous sinus thrombosis

r Malignant hypertension r Central retinal vein occlusion

Differential diagnosis Papilloedema: normal visual acuity, obscurations and tunnel vision Papillitis: reduced visual acuity, central scotoma and pain

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Age-related macular degeneration (AMD) Examine this elderly patient’s fundi. She complains of recent loss of vision. Clinical signs

r Wet (neovascular and exudative) or dry (non-neovascular, atrophic and

non-exudative)

r Macular changes: r Drusen (extracellular material) r Geographic atrophy r Fibrosis r Neovascularization (wet)

Extra points Associations Wet AMD have a higher incidence of coronary heart disease and stroke.

Discussion Risk factors

r Age, white race, family history and smoking

Treatment

r Ophthalmology referral

Wet AMD may be treated by intravitreal injections of anti-VEGF (though can increase cerebrovascular and cardiovascular risk).

Prognosis Majority of patients progress to blindness in the affected eye within 2 years of diagnosis.


Retinitis pigmentosa This man has been complaining of difficulty seeing at night. Please examine his eyes.

Clinical signs

r White stick and braille book (registered blind) r Reduced peripheral field of vision (tunnel vision) r Fundoscopy

Peripheral retina 'bone spicule pigmentation', which follows the veins and spares the macula. Optic atrophy due to neuronal loss (consecutive). Association: cataract (absent red reflex).

Extra points ‘At a glance’ findings can help make the diagnosis: r Ataxic: Friedreich’s ataxia, abetalipoproteinaemia, Refsum’s disease, Kearns–Sayre syndrome r Deafness (hearing-aid/white stick with red stripes): Refsum’s disease, Kearns–Sayre syndrome, Usher’s disease r Ophthalmoplegia/ptosis and permanent pacemaker: Kearns–Sayre syndrome r Polydactyly: Laurence–Moon–Biedl syndrome r Icthyosis: Refsum’s disease

Discussion Inherited form of retinal degeneration characterized by loss of photoreceptors.

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Causes

r Congenital: often autosomal recessive inheritance, 15% due to rhodopsin

pigment mutations

r Acquired: post-inflammatory retinitis

Prognosis

r Progressive loss of vision due to retinal degeneration. Begins with reduced

night vision. Most are registered blind at 40 years, with central visual loss in the seventh decade. r No treatment although vitamin A may slow disease progression.

Causes of tunnel vision r Papilloedema r Glaucoma r Choroidoretinitis r Migraine r Hysteria


Retinal artery occlusion Examine this man’s fundi. Clinical signs

r Pale, milky fundus with thread-like arterioles r ± Cherry red macula (choroidal blood supply)

Extra points

r Cause: AF (irregular pulse) or carotid stenosis (bruit) r Effect: optic atrophy and blind (white stick)

Note that branch retinal artery occlusion will have a field defect opposite to the quadrant of affected retina.

Discussion Causes

r Embolic: carotid plaque rupture or cardiac mural thrombus.

Rx: aspirin, anti-coagulation and endarterectomy. r Giant cell arteritis: tender scalp and pulseless temporal arteries. Rx: high dose steroid urgently.

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Retinal vein occlusion Examine this patient’s fundi. Clinical signs

r Flame haemorrhages +++ radiating out from a swollen disc r Engorged tortuous veins r Cotton wool spots

Extra points

r Cause: look for diabetic or hypertensive changes (visible in branch retinal

vein occlusion).

r Effect: Rubeosis iridis causes secondary glaucoma (in central retinal vein

occlusion), visual loss or field defect.

Discussion Causes

r Hypertension r Hyperglycaemia: diabetes mellitus r Hyperviscocity: Waldenstrom’s macroglobulinaemia or myeloma ¨ r High intraocular pressure: glaucoma


Cataracts Examine this patient’s eyes. She complains of blurred vision and glare from bright lights. Clinical signs

r Loss of the red reflex r Cloudy lens

Extra points

r May have relative afferent pupillary defect (with normal fundi if visible) r Associations: dystrophia myotonica (bilateral ptosis)

Discussion Causes

r Congenital (pre-senile): rubella, Turners syndrome r Acquired: age (usually bilateral), drugs (steroids), radiation exposure,

trauma, diabetes and storage disorders

Treatment

r Surgery (outpatient): r Phacoemulsification with prosthetic lense implantation r YAG laser capsulotomy

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Abnormal pupils Examine this patient’s eyes. Horner’s pupil Clinical signs 'PEAS' Ptosis (levator palpebrae is partially supplied by sympathetic fibres) Enophthalmos (sunken eye) Anhydrosis (sympathetic fibres control sweating) Small pupil (miosis)

Horner's

May also have flushed/warm skin ipsilaterally to the Horner's pupil due to loss of vasomotor sympathetic tone to the face.

Extra points

r Look at the ipsilateral side of the neck for scars (trauma, e.g. cen-

tral lines, carotid endarterectomy surgery or aneurysms) and tumours (Pancoast’s).

Discussion Cause Following the sympathetic tract’s anatomical course: Brain stem MS Stroke (Wallenberg’s)

Spinal cord Syrinx

Neck Aneurysm Trauma Pancoast’s


Holmes–Adie (myotonic) pupil Clinical signs Holmes–Adie pupil

Moderately dilated pupil that has a poor response to light and a sluggish response to accommodation (you may have to wait!)

Light source

Extra points

r Absent or diminished ankle and knee jerks

Discussion A benign condition that is more common in females. Reassure the patient that nothing is wrong.

Argyll Robertson pupil Clinical signs A–R pupil Small irregular pupil Accommodates but doesn't react to light Atrophied and depigmented iris

Light source

Extra points

r Offer to look for sensory ataxia (tabes dorsalis)

Discussion

r Usually a manifestation of quaternary syphilis, but it may also be caused

by diabetes mellitus

r Test for quaternary syphilis using TPHA or FTA, which remain positive for

the duration of the illness

r Treat with penicillin

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Oculomotor (III) nerve palsy Clinical signs Ptosis usually complete Dilated pupil The eye points 'down and out' due to the unopposed action of lateral rectus (VI) and superior oblique (IV)

III nerve palsy

Extra points Nasal

Test for the trochlear (IV) nerve On looking nasally the eye will intort (rotate towards the nose) indicating that the trochlear nerve is working

r If the pupil is normal consider medical causes of III palsy r Surgical causes often impinge on the superficially located papillary fibres

running in the III nerve

Discussion Causes Medical Mononeuritis multiplex, e.g. DM Midbrain infarction: Weber’s Midbrain demyelination (MS) Migraine

Surgical Communicating artery aneurysm (posterior) Cavernous sinus pathology: thrombosis, tumour or fistula (IV, V and VI may also be affected) Cerebral uncus herniation


Optic atrophy Examine this woman’s eyes. Clinical signs

r Relative afferent pupillary defect (RAPD): dilatation of the pupil on moving

the light source from the normal eye (consensual reflex) to the abnormal eye (direct reflex): RAPD

Light source

Light source Marcus–Gunn pupil

r Fundoscopy: disc pallor

Extra points Look for the cause.

On examining the fundus

r Glaucoma (cupping of the disc) r Retinitis pigmentosa r Central retinal artery occlusion

r Frontal brain tumour: Foster–Kennedy syndrome (papilloedema in

one eye due to raised intercranial pressure and optic atrophy in the other due to direct compression by the tumour)

At a glance from the end of the bed

r Cerebellar signs, e.g. nystagmus: multiple sclerosis (internuclear oph-

thalmoplegia), Friedreich’s ataxia (scoliosis and pes cavus)

r Large bossed skull: Paget’s disease (hearing aid) r Argyll–Robertson pupil: Tertiary syphilis

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Discussion Causes: PALE DISCS PRESSURE∗ : tumour, glaucoma and Paget’s ATAXIA: Friedreich’s ataxia LEBER’S DIETARY: ↓B12 , DEGENERATIVE: retinitis pigmentosa ISCHAEMIA: central retinal artery occlusion SYPHILIS and other infections, e.g. CMV and toxoplasmosis CYANIDE and other toxins, e.g. alcohol, lead and tobacco SCLEROSIS∗ : MS (∗ denotes commonest cause)


Hyperthyroidism and Graves’ disease This lady presents with a lump in her neck. Please examine it. Clinical signs

r Smooth, diffuse goitre

Eye signs

Peripheral signs

Specific to Graves’ r Proptosis r Chemosis r Exposure keratitis r Ophthalmoplegia r Thyroid acropachy r Pretibial myxoedema

Hyperthyroidism r Lid retraction r Lid lag

r Agitation r Sweating r Tremor r Palmar erythema

r Sinus tachycardia/AF r Brisk reflexes

Extra points Thyroid status

r Graves’ disease patients may be hyperthyroid, euthyroid or hypothyroid

depending on their stage of treatment.

Eyes

r Keratitis due to poor eye closure. r Optic nerve compression: loss of colour vision initially then development

of a central scotoma and reduced visual acuity.

r Papilloedema may occur.


r Thyroid function tests: TSH and T /T 3 4 r Thyroid autoantibodies r Radioisotope scanning: increased uptake of I131 in Graves’, reduced in

thyroiditis

Treatment

r ␤-blocker, e.g. propranolol r Carbimazole or propylthiouracil (both thionamides) r Block and replace with thyroxine r Titrate dose and monitor endogenous thyroxine

186


Stop at 18 months and assess for return of thyrotoxicosis. One-third of patients will remain euthyroid. If thyrotoxicosis returns, the options are r A repeat course of a thionamide r Radioiodine (I131 ): hypothyroidism common r Subtotal thyroidectomy Severe ophthalmopathy may require high-dose steroids, orbital irradiation or surgical decompression to prevent visual loss. The NOSPECS mnemonic for the progression of eye signs in Graves’: No signs or symptoms Only lid lag/retraction Soft tissue involvement Proptosis Extraocular muscle involvement Chemosis Sight loss due to optic nerve compression and atrophy


Hypothyroidism Examine this patient – she has been complaining of the cold. Clinical signs r Hands: r Slow pulse r Dry skin

r Cool peripheries r Head/face/neck: r ‘Peaches and cream’ complexion (anaemia and carotenaemia) r Eyes: peri-orbital oedema, loss of eyebrows and xanthelasma r Thinning hair r Goitre or thyroidectomy scar

r Legs: r Slow relaxing ankle jerk (tested with patient kneeling on a chair)

Extra points Complications

r Cardiac: pericardial effusion (rub), congestive cardiac failure (oedema) r Neurological: Carpel tunnel syndrome (Phalen’s/Tinel’s test), proximal my-

opathy (stand from sitting) and ataxia

Other autoimmune diseases

r Addison’s disease, vitiligo and diabetes mellitus


r Blood: TSH (↑ in thyroid failure, ↓ in pituitary failure), T ↓, autoantibodies 4

Associations: hyponatraemia, hypercholesterolaemia, macrocytic anaemia, consider short Synacthen test (exclude Addison’s) r ECG: pericardial effusion and ischaemia r CXR: pericardial effusion and CCF

Management

r Thyroxine titrated to TSH suppression and clinical response

NB. 1. Can precipitate angina 2. Can unmask Addison’s disease → crisis

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Causes

r Autoimmune: Hashimoto’s thyroiditis (+goitre) and atrophic hypothy-

roidism

r Iatrogenic: Post-thyroidectomy or I131 , amiodarone, lithium and anti-

thyroid drugs

r Iodine deficiency: dietary (‘Derbyshire neck’) r Dyshormonogenesis r Genetic: Pendred’s syndrome (with deafness)


Acromegaly Please examine this man who has been complaining of headaches.∗ Clinical signs: ‘spot diagnosis’

r Hands: large ‘spade like’, tight rings∗ , coarse skin and sweaty∗ r Face: prominent supra-orbital ridges, prognathism, widely spaced teeth

and macroglossia (∗ Signs of active disease)

Extra points Complications to look for: A, B, C. . . Acanthosis nigricans BP ↑∗ Carpal tunnel syndrome Diabetes mellitus∗ Enlarged organs Field defect∗ : bitemporal hemianopia Goitre, Gastrointestinal malignancy Heart failure, Hirsute, Hypopituitary IGF-1 ↑ Joint arthropathy Kyphosis Lactation (galactorrhoea) Myopathy (proximal)

Discussion Investigations Diagnostic

r Non-suppression of GH after an oral glucose tolerance test r Raised plasma IGF-1 r CT/MRI pituitary fossa: pituitary adenoma r Also assess other pituitary functions

Complications

r CXR: cardiomegaly r ECG: ischaemia (DM and hypertension) r Pituitary function tests: T , base line PRL and testosterone 4 r Glucose: DM r Visual perimetry r Obstructive sleep apnoea (in 50%)

190


Management Aim is to normalize GH and IGF-1 levels 1 Surgery: trans-sphenoidal approach Medical post-op complications: r Meningitis r Diabetes insipidus r Panhypopituitarism 2 Medical therapy: Somatostatin analogues (Octreotide), Dopamine agonists (Cabergoline) and growth hormone receptor antagonists (Pegvisomant) 3 Radiotherapy in non-surgical candidates

Follow-up Annual GH, PRL, ECG, visual fields and CXR ± CT head

MEN (multiple endocrine neoplasia) I Inherited tumours: autosomal dominant, chromosome 11 r Parathyroid hyperplasia (Ca++ ↑) r Pituitary tumours r Pancreatic tumours (gastrinomas)

Causes of macroglossia r Acromegaly r Amyloidosis r Hypothyroidism

r Down’s syndrome

Acanthosis nigricans

r Brown ‘velvet-like’ skin change found commonly in the axillae.

Associations: r Obesity r Type II diabetes mellitus r Acromegaly r Cushing’s syndrome r Ethnicity: Indian subcontinent r Malignancy, e.g. gastric carcinoma and lymphoma


Cushing’s Examine this lady and tell us what is wrong. She has been gaining weight. Clinical signs: ‘spot diagnosis’

r Face: moon-shaped, hirsute, with acne r Skin: bruised, thin, with purple striae r Back: ‘buffalo hump’ r Abdomen: centripetal obesity

r Legs: wasting (‘lemon on sticks’ body shape) and oedema

Extra points

r Complications: r Hypertension (BP) r Diabetes mellitus (random blood glucose) r Osteoporosis (kyphosis) r Cellulitis

r Proximal myopathy (stand from sitting) r Cause: r Exogenous: signs of chronic condition (e.g. RA, COPD) requiring steroids r Endogenous: bitemporal hemianopia and pigmentation (if ACTH ↑)

Discussion Cushing’s disease: glucocorticoid excess due to ACTH secreting pituitary adenoma. Cushing’s syndrome: the physical signs of glucocorticoid excess.

Investigation 1 Confirm high cortisol r 24-hour urinary collection r Low dose (for 48 hours) or overnight dexamethasone suppression test Suppressed cortisol: alcohol/depression/obesity (‘pseudo Cushing’s’) 2 If elevated cortisol confirmed, then identify cause: r ACTH level r High: Ectopic ACTH secreting tumour or pituitary adenoma r Low: Adrenal adenoma/carcinoma r MRI pituitary fossa ± adrenal CT ± whole body CT to locate lesion r Bilateral inferior petrosal sinus vein sampling (best test to confirm pituitary vs. ectopic origin; may also lateralise pituitary adenoma) r High-dose dexamethasone suppression test may help >50% suppressed cortisol: Cushing’s disease

192


Treatment Surgical: Trans-sphenoidal approach to remove pituitary tumours. Adrenalectomy for adrenal tumours Nelson’s syndrome: bilateral adrenalectomy (scars) to treat Cushing’s disease, causing massive production of ACTH (and MSH), due to lack of feedback inhibition, leading to hyper-pigmentation and pituitary overgrowth. Pituitary irradiation Medical: Metyrapone

Prognosis Untreated Cushing’s syndrome has 50% mortality at 5 years (ischaemic heart disease due to diabetes and hypertension).

Causes of proximal myopathy Inherited: r Myotonic dystrophy r Muscular dystrophy Endocrine: r Cushing’s syndrome r Hyperparathyroidism r Thyrotoxicosis r Diabetic amyotrophy Inflammatory: r Polymyositis r Rheumatoid arthritis Metabolic: r Osteomalacia Malignancy: r Paraneoplastic r Lambert–Eaton myasthenic syndrome Drugs: r Alcohol r Steroids


Addison’s Examine this man; he was admitted as an emergency 4 days ago with hypotension. Clinical signs

r Medic alert bracelet r Hyper-pigmentation: palmar creases, scars, nipples and buccal mucosa r Postural hypotension

Extra points

r Other associated autoimmune diseases, e.g. hyperthyroidism, diabetes and

vitiligo

r Signs of TB or malignancy

Discussion Investigation order 8 a.m. cortisol: no morning elevation suggests Addison’s disease (unreliable) R test Short Synacthen r Exclude Addison’s disease if cortisol rises to adequate levels R test Long Synacthen r Diagnose Addison’s disease if cortisol does not rise to adequate levels Pituitary imaging (MRI or CT)

Other tests Blood FBC: eosinophilia U + E: ↓ Na+ (kidney loss), ↑ K+ , ↑ urea (dehydration), ↓ glucose Adrenal autoantibodies CXR: Malignancy or TB Visual fields

Treatment Acute

r 0.9% saline IV rehydration +++ r Hydrocortisone r Treat the cause

NB. 1. Anti-TB treatment increases the clearance of steroid therefore use higher doses. 2. May unmask diabetes insipidus (cortisol is required to excrete a water load).

194


Chronic

r Education: compliance, increase dose if ‘ill’, steroid card, Medic alert

bracelet

r Titrate hydrocortisone (and fludrocortisone) dose to levels/response

Prognosis

r Normal life expectancy. r In 80% of cases Addison’s disease is due to an autoimmune process. Other

causes include adrenal metastases, adrenal tuberculosis and Waterhouse– Friederichsen syndrome (meningococcal sepsis and adrenal infarction). r Pigmentation is due to a lack of feedback inhibition by cortisol on the pituitary, leading to raised ACTH and MSH (melanocyte-stimulating hormone).

Appendix: Useful Addresses

Royal College of Physicians of London 11 St Andrews Place London NW1 4LE Tel: 020 7935 1174 Fax: 020 7486 4514 http://www.rcplondon.ac.uk Royal College of Physicians of Edinburgh 9 Queen Street Edinburgh EH2 1JQ Tel: 0131 2257324 Fax: 0131 2252053 http://www.rcpe.ac.uk Royal College of Physicians and Surgeons of Glasgow 242 St Vincent Street Glasgow G2 5RJ Tel: 0141 2216072 Fax: 0141 2483414 http://www.rcpsglasg.ac.uk MRCP (UK) Central Office 11 St Andrews Place London NW1 4LE Tel: 020 7935 1174 Fax: 020 7486 4514 http://www.mrcpuk.org.uk College publications: MRCP (UK) Part 2: Clinical Examination (PACES) Clinical Guidelines MRCP (UK) Regulations and Information for Candidates: r Guidance on examination structure and content r Examination mark sheets http://www.medical-masterclass.com r Interactive cases tailored to the MRCP PACES examination

196

Appendix: Useful Addresses

General Medical Council 178 Great Portland Street London W1W 5JE Tel: 020 7580 7642 Fax: 020 7915 3631 http://www.gmc-uk.org r Good medical practice r Guidance on confidentiality, consent and other ethical issues National Institute for Health and Clinical Excellence (NICE) MidCity Place 71 High Holborn London WC1V 6NA Tel: 0845 0037780 Fax: 0845 0037784 http://www.nice.org.uk r Guidance on cost effectiveness of clinical treatments Driver and Vehicle Licensing Agency (DVLA) Swansea SA6 7JL Tel: 0870 2400009 Fax: 0870 2401651 http://www.dvla.gov.uk r Advice regarding driving restrictions for medical conditions

Index

␣-1 antitrypsin, 2, 29 ␣-fetoprotein, 5 abdominal examination, 138 abdominal scars, 153 abnormal findings, 72 abnormal pupils, 180–82 absent distal pulses, 145 acanthosis nigricans, 190 acromegaly, 152, 189–90 actinic keratoses, 10, 149 acute hepatic failure, 11 acute myelomonocytic leukaemia, 12 Addison’s, 193–4 adenoma sebaceum, 151 advanced decision to refuse treatment (ADRT), 109 age-related macular degeneration (AMD), 174 agitation, 132–3 alcoholic cerebellar degeneration, 87 alcohol toxicity, 2–3, 5, 34, 100 allergic bronchopulmonary aspergillosis (ABPA), 19 allergy clinic, 140 alopecia, 161 alopecia areata, 142 altered conscious state, 2, 130–32 amantadine, 100 amputation, 146 amyloidosis, 8, 152, 190 amyotrophic lateral sclerosis, 97 anaemia, 13, 133–4 anaphylaxis, 140 angiodysplasia, 60 angioid streaks, 166 angioplasty, 146 ankle-brachial pressure index, 146

ankylosing spondylitis, 22–3, 163 anterior uveitis, 163 antibiotics, 14 anti-cholinergics, 100 anticoagulation, 73 anti-nuclear antibody (ANA), 160 anti-tachycardia pacing (ATP), 74 anti-TNF therapy, 158 aortic flow, 60 aortic incompetence, 62–4, 164 aortic regurgitation, 163 aortic sclerosis, 60 aortic stenosis, 59–61 apical fibrosis, 23 apical lung fibrosis, 163 apomorpine, 100 Argyll Robertson pupil, 181 arteriography, 146 arteriovenous fistulae, 8, 10 arthralgia, 66 arthritis, 160, 163 asbestosis, 21 ascites, 2–3 aspergilloma, 22–3 aspiration, 21 aspirin, 91 assault, 108 asterixis, 2 asthma, 52–3, 139 ataxia, 86 ataxia telangiectasia, 87 atlanto-axial subluxation, 157 atrial septal defect, 80–81 atrio-ventricular nodal heart block, 163 atrophic lesions, 147 atrophie blanche, 145 auscultation, 1, 31, 62, 65, 75 Austin–Flint murmur, 66

198

Index

autoantibodies, 162 autoimmune disease, 10, 20, 104, 187, 193 autoimmune hepatitis, 2 autonomy, 106–7, 110, 113 autosomal dominant, 154 autosomal dominant polycystic kidney disease, 9 ␤-blockers, 83 basal cell carcinoma, 10, 149 battery, 107 B cell depletion therapy, 158 Bell’s palsy, 103 bilateral enlargement, 8 bilateral extra-ocular palsies, 105 bilateral facial palsy, 103 bilateral Horner’s syndrome, 105 bilateral hydronephrosis, 8 bilateral inferior petrosal sinus vein sampling, 191 bilateral ptosis, 105 bilateral renal cell carcinoma, 8 biopsy, 2 biventricular pacemakers (BiV), 74 Blalock–Taussig (BT) shunts, 78 bleeding, 73 blindness, 174 blood glucose, 5 blood pressure, 152 blot haemorrhages, 170 bone marrow, 6 bony tenderness. See hepatomegaly bowel contrast studies, 14 Bowen’s disease, 149 brain stem death and organ donation, 120–21 brain stem vascular event, 87 brief clinical consultations, 125 bronchial breathing, 16 bronchial carcinoma, 18–19 bronchiectasis, 18–19, 23 bronchioles, 27 bronchoalveolar lavage, 20

bronchodilators, 30 bronchogenic primary tumour, 70 bronchoscopy, 18, 32 bullectomy, 30 cachexia, 135 caeruloplasmin, 2 calcinosis, 161 calciphylaxis, 12 calcipotriol, 141 Caplan’s nodules, 157 carbamazepine, 88 carcinoid syndrome, 71 carcinoma, 2 cardiac arrhythmias, 132 cardiac catheterisation, 82 cardiac murmur, 145 cardiac resynchronisation therapy (CRT), 74 cardiac thromboembolism, 91 carditis, 66 carotid endarterectomy, 91 carpal tunnel release, 156 carpal tunnel syndrome, 157 cataracts, 179 cavernous sinus pathology, 182 cellulitis, 11 central retinal artery occlusion, 183 cerebellar syndrome, 86–7 cerebral abscess, 128 cerebral oedema, 128 cervical lymphadenopathy, 135 cervical myelopathy, 93 Charcot’s joint, 95–6, 145 chemotherapy, 32 chest pain, 125–7, 135 cholestasis, 148 choroidoretinitis, 176 chronic bronchitis, 29 chronic graft dysfunction, 11 chronic liver disease, 1, 4, 6, 16 chronic lung abscess, 18 chronic obstructive airways disease, 29–30

Index 199 chronic plaque, 140 chronic renal failure, 11–2, 16 chronic symptomatic relief, 14 ciclosporin, 10, 13 ciclosporin nephrotoxicity, 11 cirrhosis, 3 Child-Pugh classification, 3 complications, 3 hepatomegaly, 2 coal tar, 142 coarctation, 79 collapse, 16 collapsing pulse, 62–3 colonic carcinoma, 14–15 colonoscopy, 2 communication skills, 114–15 community acquired pneumonia (CAP), 24 competency and consent, 107–10 COMT inhibitors, 100 confidentiality, 110–11 congestive cardiac failure, 2, 16 conjunctival precipitation, 12 connective tissue disease, 16, 21, 75 consent documentation, 108 consolidation, 16 constitutional symptoms, 135 constrictive pericarditis, 75 cor pulmonale, 18, 27, 29 corneal arcus, 148 cough, 134 craggy hepatomegaly, 135 cranial nerves, 88 Crohn’s disease, 13–14 CT thorax, 18 Cushing’s disease/syndrome, 191–2 cutaneous leishmaniasis, 146 cutaneous ulcer, 149 cyclophosphamide, 160 cystic fibrosis, 27–8 dealing with a difficult patient, 115–16 De Musset’s sign, 62 dermatomyositis, 31

dexamethasone, 32 diabetes, 5, 147–8 diabetic maculopathy, 170 diabetic nephropathy, 11 diabetic retinopathy, 169–71 disuse atrophy, 98 dithranol, 142 diuretics, 3 do-not-attempt resuscitation (DNAR) orders, 112–13 dopamine agonists, 100 Down’s syndrome, 80, 190 Dressler’s MI, 76 driving restrictions, 116 drugs, 14 Duckett–Jones diagnostic criteria, 66 Duke’s criteria, 61 dull lung base, 16 dull percussion, 24 dysdiadochokinesis, 86 dyshormonogenesis, 188 dysphasia, 92 dyspnoea, 139–40 dystrophia myotonica, 84–5 early diastolic murmur (EDM), 62 eczema, 144 Ehlers–Danlos syndrome, 153–4 Eisenmenger’s syndrome, 77 ejection systolic murmur (ESM), 70 embolic complications, 65 embolic phenomena, 61 emollients, 144 emphysema, 29 empyema, 17 end of life decisions, 112–14 endocarditis, 63 endocrine disorders, 185–94 endocrinopathy, 3 endovascular aortic repair (EVAR), 79 enophthalmos, 179 epilepsy, 150 episcleritis, 15 erythema marginatum, 66

200

Index

erythema multiforme, 24 erythroderma, 142 ethics, 106–24 expiratory wheeze, 29 extensor plantars, 102 extra-intestinal manifestations, 15 extrinsic allergic alveolitis, 23 eyes, 169–84 facial nerve palsy, 103 Fallopian tubes, 27 Fallot’s tetralogy, 77–8 fasciculation, 98 Felty’s syndrome, 6, 157 ferritin, 2 fibrosing alveolitis, 18 focal coarse crackles, 24 fragile skin, 153 Friedreich’s ataxia, 82–3, 93, 102 frontal brain tumour, 183 gas transfer, 29 gastrointestinal bleeding, 154 gastrointestinal disease, 162 gastroscopy, 2 Gaucher’s, 6 genetic anticipation, 83 genotype analysis, 5 genotyping, 4 Gerstmann’s syndrome, 92 Gillick competence, 108 glaucoma, 176, 183 glomerulonephritis, 11, 162 goitre, 132 GOLD classification, 30 Graves’ disease, 105, 185–6 Guillain–Barre syndrome, 105 gum hypertrophy, 12 guttate psoriasis, 142 gynaecomastia, 31 haematuria, 8, 138 haemochromatosis, 2, 4–5, 10 haemodynamic compromise, 131 haemoglobinuria, 24

haemolysis, 73 haemolytic anaemia, 6 Haemophilus influenzae (Hib), 7, 24 haemoptysis, 25, 134–6 haemorrhagic cystitis, 160 Hamman–Rich syndrome, 21 Hashimoto’s thyroiditis, 188 headache, 127–9 hemiplegia, 91 hepatic encephalopathy, 3 hepatic malignancy, 11 hepatocellular carcinoma (HCC), 5 hepatomegaly, 1–2, 4, 6, 8 hereditary haemorrhagic telangiectasia, 154 hereditary sensory motor neuropathy, 101 hereditary spherocytosis, 7 Herpes zoster, 102 Hickman lines, 13, 27 high-dose dexamethasone suppression test, 191 higher cortical dysfunction, 91 high intraocular pressure, 178 high resolution CT scan, 20 histiocytosis X, 22–3 histoplasmosis, 22–23 history taking, 34–58 HIV testing, 138 Holmes–Adie (myotonic) pupil, 181 homocystinuria, 165 homonomous hemianopia, 91 Horner’s syndrome, 85, 95 hospital-acquired pneumonia, 25 Human Organ Transplant Act, 122 Human Tissue Act, 122 Huntington’s chorea, 118–19 hydrocortisone, 142 hydronephrosis, 8 hypercholesterolaemia, 148, 169 hyperextensible skin, 153 hyperglycaemia, 178 hyperlipidaemia, 147 hyperparathyroidism, 11 hypersensitivity pneumonitis, 22

Index 201 hypertension, 8, 11, 178 hypertensive retinopathy, 172–3 hyperthyroidism, 3, 132, 185–6 hypertriglyceridaemia, 148 hypertrophic (obstructive) cardiomyopathy, 82–3 hyperventilation, 131 hyperviscocity, 178 hypogammaglobulinaemia, 19 hyporeflexia, 86 hypothyroidism, 87, 148, 187–8, 190 hypotonia, 86 hypoxaemia, 140 hysteria, 176 iliac fossae, 8 immobility in the elderly, 136–7 immunoglobulins, 18 immunological disorders, 160 immunosuppressive medication, 10 implantable cardiac defibrillators (ICD), 74 implantable devices, 74 implied consent, 108 indwelling catheter, 8 infective endocarditis, 73 infertility, 160 inflammatory bowel disease, 13–15, 18 information delivery, 117 intention tremor, 86, 100 intercostal drainage, 18 internuclear ophthalmoplegia, 88 interstitial fibrosis, 161 interview structure, 34 intracranial aneurysms, 154 ipsilateral cerebellar signs, 86 isoniazid, 22 Jaccoud’s arthropathy, 159 jaundice, 37, 49 joints, 15 arthropathy, 4 replacement, 156 justice principle, 106, 112

Kartagener’s fibrosis, 18 Kearns–Sayre syndrome, 105 keratotic nodule, 149 Kernig’s sign, 128 Kleinfelter’s syndrome, 3 Koebner phenomenon, 143, 155 Kussmaul’s sign, 75, 131 kyphosis, 22 Lambert–Eaton myasthenic syndrome (LEMS), 31, 105 Legionella antigen, 24 leg ulcers, 145–6 leprosy, 152 Lewy-body dementia, 99 Lhermitte’s sign, 88 lichen planus, 142 lipodermatosclerosis, 145 liver biopsy, 2, 4 liver disease, 1–3 liver transplantation, 10–11 lobectomy scar, 31 R long Synacthen test, 193 long-term oxygen therapy (LTOT), 30 lumbar puncture, 128 lumbo-sacral root levels, 94 lung abscess, 25 lung cancer, 31–3 lung function tests, 20 lupus pernio, 155 Lyme disease, 102 lymphadenopathy, 6, 31, 166 lymph node biopsy, 6 lymphoproliferative disease, 6, 11 macroglossia, 190 malaria, 6 malar rash, 160 malignancy, 10 malignant hypertension, 172 malignant melanoma, 10, 150 MAO-B inhibitor, 100 Marfan’s syndrome, 68, 164–5 Marjolin’s ulcer, 145 medic alert bracelet, 7

202

Index

medico-legal system, 106–7 meningitis, 129 Mental Health Act, 109 mental retardation, 152 methylprednisolone, 160 metronidazole, 14 microaneurysms, 170 midbrain demyelination (MS), 182 midbrain infarction, 182 mid-diastolic murmur (MDM), 65 migraine, 176 mitral incompetence, 67–8 mitral stenosis, 65–6 mitral valve prolapse (MVP), 68, 82, 153 mitral valvotomy, 66, 72 mitral valvuloplasty, 66 mononeuritis multiplex, 101 mononeuropathy, 102 morphoea, 161 motor neurone disease, 93, 97–8 multidisciplinary approach, 32, 91 multiple endocrine neoplasia I, 190 multiple sclerosis, 88–9, 93 multisystem atrophy, 99 myasthenia gravis, 85, 102, 104–5 mycophenolate mofetil, 160 Mycoplasma pneumoniae, 24 mycotic aneurysm, 19 myelofibrosis, 6 myeloproliferative disorders, 2 myotonic dystrophy, 85 N-acetyl cysteine, 20 nail pitting, 142 necrobiosis lipoidica diabeticorum, 148 negligence, 107 neovascular glaucoma, 171 nephrectomy, 9–10 nephrotic syndrome, 148 neurofibromatosis, 152 neurological disorder, 160 neuropathic arthropathy, 96 neutropenia, 158

non-small cell carcinoma, 32 Noonan’s syndrome, 70 nystagmus, 85–6 occupational therapy, 168 oculomotor (III) nerve palsy, 182 ophthalmoplegia, 175 optic atrophy, 183–4 oral ulceration, 13, 159 organ donation, 120–22 osteoarthritis, 168 osteogenic sarcoma, 166 osteomalacia, 166 Paget’s disease, 166 palliative care, 32 palmar erythema, 3 palmo-plantar pustular psoriasis, 140 Pancoast’s tumour, 98 pancreatic ducts, 27 pan-systolic murmur, 68 papilloedema, 173, 176 paracetamol overdose, 119 paraneoplastic cerebellar syndrome, 87 para-pneumonic effusion, 24–5 parasagittal falx meningioma, 93 Parkinson’s disease, 99–100 parotid swelling, 154 partial anterior circulation, 91 patent ductus arteriosus (PDA), 79 percussion myotonia, 83 percutaneous pulmonary valve implantation (PPVI), 70 pericardial disease, 75–6 peripheral neuropathy, 98, 101, 152 peripheral oedema, 159 peritoneal dialysis catheter, 8 persistent fever, 137–9 pes cavus, 101 phacoemulsification, 179 phaeochromocytoma, 152 phenytoin toxicity, 87 phrenic nerve crush, 22 physiotherapy, 27

Index 203 pituitary irradiation, 192 pleural aspiration, 17 pleural effusion, 16–17, 23 pleural fluid cytology, 17–18 pleural thickening, 16 pleuritic chest pain, 129 plombage, 22 pneumococcal antigen, 24 Pneumocystis carinii, 11 pneumonia, 24–6 pneumothorax, 140, 164 Pneumovax II, 25 polio, 98 polyarthritis, 66 polycystic kidney disease, 8, 11 polydactyly, 175 polypoid mass, 149 portal hypertension, 6 postural dizziness, 137 postural tremor, 100 Pott’s fracture, 22 pregnancy, 12 pre-proliferative diabetic retinopathy, 169 pre-proliferative retinopathy, 170 primary sclerosing cholangitis, 15 progressive bulbar palsy, 97 progressive muscular atrophy, 97 progressive supranuclear palsy, 99 proliferative diabetic retinopathy, 171 proliferative retinopathy, 170 prophylaxis, 66 prosthetic valves, 61, 72–3 proteinuria, 8 proton-pump inhibitor, 162 proximal myopathy, 12, 192 pseudoxanthoma elasticum, 153, 166 psoriasis, 141–3 psoriatic arthropathy, 142 psychological support, 14 ptosis, 85 pulmonary embolus, 26, 130 pulmonary fibrosis, 20–21

pulmonary hypertension, 65 pulmonary rehabilitation, 30 pulmonary stenosis, 70–71 pulsus paradoxus, 75 pyrazinamide, 22–3 pyrexia, 66 radiotherapy, 31 Raynaud’s phenomenon, 159, 161 Raynaud’s therapy, 162 recurrent laryngeal nerve palsy, 31 Refsum’s disease, 152, 175 renal artery stenosis, 152 renal cell carcinoma, 8 renal enlargement, 8–9 renal transplantation, 11 resting tremor, 100 retinal artery occlusion, 177 retinal vein occlusion, 178 retinitis pigmentosa, 175–6, 183 retinopathy, 158 rheumatic fever, 60, 63, 66 rheumatoid arthritis, 3, 98, 156–8, 159, 192 rifampicin, 22 right ventricular failure, 70 Romberg’s sign, 137 sabre tibia, 166 saccharine ciliary motility test, 18 sarcoidosis, 22 scanning dysarthria, 86 scarring alopecia, 159 Schober’s test, 163 sclerodactyly, 161 scoliosis, 152 secondary hyperlipidaemia, 148 sensorineural deafness, 102 sensory loss, 92 sepsis screen, 137 serum ferritin, 4 short Synacthen test, 193 sickle-cell anaemia, 146 sigmoidoscopy, 13

204

Index

skin, 15 malignancy, 149–50 prick testing, 18 problems, 153–5 small cell carcinoma, 32 smoking, 30, 135 spastic legs, 93–4 spirometry, 29 splenectomy, 7 splenomegaly, 6–7 squamous cell carcinoma, 10, 149–50 steroids, 10 stool microscopy, 13 Streptococcus pneumoniae, 24 stroke, 90–92 subcutaneous nodules, 66 superficial telangiectasia, 149 superior vena cava obstruction, 31 sweating, 132 swollen calf, 129–30 syphilis, 146 syringomyelia, 95–6, 98, 146 systemic amyloidosis, 15 systemic lupus erythematosus, 159–60 systemic sclerosis, 161–2 tabes dorsalis, 146 tachypnoea, 24 tapping apex, 65 telangiectasia, 161 tendon transfer, 156 tendon xanthomata, 148 teratogenicity, 160 tertiary syphilis, 183 testicular tumour, 3 Tetralogy of Fallot, 70 thoracoplasty, 22 thromboembolus, 73 thrombolysis, 91 thrombophlebitis, 130 thyroid eye disease, 132 thyroid storm, 132 thyrotoxicosis, 63

TIMI risk score, 127 tophaceous gout, 167 total anterior circulation stroke (TACS), 91 tracheal deviation, 31 tracheal tug, 29 traction retinal detachment, 171 transferrin saturation, 4 transient ischaemic attack (TIA), 91 transplant patient, 10–12 trauma, 75 tricuspid incompetence, 69 tuberculosis, 22–3 tuberous sclerosis, 8, 151 ulcerative colitis, 14 ultrasound abdomen, 6, 9 upper motor neurone spasticity, 88 urine cytology, 8 Uthoff’s phenomenon, 88 valve failure, 73 varicose eczema, 145 varicose veins, 145 vascular malformations, 154 vasculitic phenomena, 61 vasculitis, 26 vein surgery, 146 venous hypertension, 145 ventricular interdependence, 76 ventricular septal defect, 77–9 vertical eye movements, 99 viral warts, 11, 143 visual acuity, 152 vitiligo, 143 vitreous haemorrhage, 171 Wilson’s disease, 2 xanthelasma, 148 xanthomata, 148 yellow nail syndrome, 18

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