Rheumatology: Clinical Scenarios

Rheumatology

 

Efim Benenson

Rheumatology Clinical Scenarios

Syndrome or disease?

Author Efim Benenson, MD Professor of Medicine Department of Internal Medicine University of Cologne Cologne Germany The work was first published as a part of a work published in 2009 by Shaker Media in German language with the following title: Rheumatologie: Syndrome und Algorithmen Translation: Beverley Taylor

ISBN 978-0-85729-239-1 DOI 10.1007/978-0-85729-240-7

e-ISBN 978-0-85729-240-7

Springer London Dordrecht Heidelberg New York A catalogue record for this book is available from the British Library Mathematics Subject Classification (2000): insert codes if applicable © Springer-Verlag London Limited 2011 Apart from any fair dealing for the purposes of research or private study, or criticism or review, as permitted under the Copyright, Designs and Patents Act 1988, this publication may only be reproduced, stored or transmitted, in any form or by any means, with the prior permission in writing of the publishers, or in the case of reprographic reproduction in accordance with the terms of licenses issued by the Copyright Licensing Agency. Enquiries concerning reproduction outside those terms should be sent to the publishers. The use of registered names, trademarks, etc., in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant laws and regulations and therefore free for general use. Product liability: The publisher can give no guarantee for information about drug dosage and application thereof contained in this book. In every individual case the respective user must check its accuracy by consulting other pharmaceutical literature. Cover design: eStudioCalamar, Figueres/Berlin Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com)

I dedicate this book to my wife, Irina, for her patience and support, our children, Anna and Vladimir, and to our grandchildren, Patrick, Paulina, and Wlada.

 

Preface

“Clinical Scenarios” is directed toward trainees of rheumatology. Active learning by case studies on the way toward an established diagnosis based on a structured clinical knowledge and thinking – such is the concept of this training. It has arisen from the experience of practical clinical teaching. How can I find a diagnosis for the pictures on the front matter page? Which two commonly confused diseases do the two hands represent? Which syndromes can be seen here: arthritis, osteoarthritis, or both? How can I find the correct diagnosis for diseases I am seeing for the very first time? How to get the ability to apply my knowledge about diseases from the basic books to a real patient? The 73 clinical situations and 156 illustrations provide a realistic simulation of everyday medical practice – not as an illustration of the topic, but as a problem to be solved when seeking a diagnosis. Furthermore the case reports and pictures complete most part of the specific area of rheumatology and present the important basis of what every doctor should be able to identify and interpret correctly. Syndrome or disease? This lately important of questions is the key both to diagnosis and clinical training. During the training with this book you can reach a diagnosis for the first time on your own, using the morphological structured signs or syndromes (terminated as a stable combination of symptoms from the Greek syn. together, dromos passage) which, unlike the symptoms, clearly depict the similarities and distinctions of the individual diseases. The solutions to the images and associated clinical situations are offered not as a process of perception or visual diagnosis, but rather as a flow of thoughts (the Greek term for flow, rheuma, happens to fit perfectly here) and respectively the outcome of integrated morphological and pathophysiological reasoning. The clinical situations and figures enclose the relatively comprehensive collection of rheumatologic leading symptoms and syndromes (Chap. 1). Certain clinical situations – also emergencies – are presented as “typical,” “unusual,” or “memorable.” They are labeled with the combinations of symptoms and syndromes, documented in the images by means of various radiological and morphological methods; also included are the traditional and new therapeutic options (immunosuppressive, biologics, laser therapy, surgeries) partly with therapy outcomes in figures. The syndromes, especially on the images, should be recognized by the reader in the context of the clinical situation and then linked with the correct diagnosis. The exemplary solutions are presented, even in the case when comparing the classical nosological and here favorite syndromes principle (Chap. 1.2).



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The reader is encouraged to enter his/her preliminary diagnosis of all figures and clinical situations in Chap. 3 as self-check and then compare his/her opinion with the diagnosis given in the Appendix. This table also serves as an index for all figures and clinical situations for a quick diagnosis. A critical review of each figure and clinical situation is presented and discussed in terms of specifics of the cases and its boundaries in the overall context with the individual treatment options (Chap. 2). In Clinical Scenarios with the images and clinical cases is also presented the deductive key for their clearing. The standardized diagnostic program (diagnostic skills) achieves a solid structuring of the findings based on morphology and pathophysiology as well as the causal investigation and wide-ranging clinical examination. The Rheumatology Trees 1 and 2 (Tables 1 and 2) offer compact information as basics at a glance and as “shortcut” for the already experienced colleagues who want to fresh up their proficiency. All images were structured as syndrome-specific, non-disease-specific, or disease specific. Rheumatology: Symptoms and Syndromes, E. Benenson, Springer 2011, is a reference work for this book. Thus the clinical routine – from patient to information and back – is in the active learning completely modulated. The idea, how to get a diagnosis, can be applied to other areas of clinical medicine. Training in rheumatology with these clinical cases could vary according to the individual objectives: as self-assessment (quiz) or study program (case-based learning) with the book as a well-structured guide to differential diagnosis (diagnostic Index of all syndromes and diseases in the Appendix), or package of individual therapeutic options with clear outcomes. I wish my readers both enjoyment and success and to myself a broad discussion in the future about clinical training ([email protected]). Cologne, Germany 

Efim Benenson, MD

Acknowledgements

Sincere thanks to my colleagues Professor of Medicine Michael Hallek, Director of Department I of Internal Medicine, University of Cologne for his advice and support, and my former boss, Professor of Medicine Volker Diehl, for welcoming me kindly to this Clinic in 1994, and especially Ursula Voigt-Pfeil for her active support in realizing this project.



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Contents

1  Diagnostic Training and Rheumatology Trees..................................................... 1.1  The Pictures and Clinical Cases That Every Doctor Should Correctly Identify and Interpret......................................................................................... 1.1.1 Pictures of the Major Syndromes in Rheumatology (Fig. 1–132, page onwards) . ...................................................................  1.1.2  Clinical Situations (CS) Marked by Syndromes...................................... 1.2  Solutions to the Clinical Situations.................................................................... 1.2.1  Arthrology................................................................................................ 1.2.2  Connective Tissue Disease (CTD)........................................................... 1.2.3  Vasculitis.................................................................................................. 1.3 Rheumatology Tree 1: Articular and Musculoskeletal Disorders (Table of the Major Syndromes)........................................................................  1.4 Rheumatology Tree 2: Connective Tissue Diseases and Vascilitides (Table of Syndromes of the Major Systemic Diseases)..................................... 

1 1 2 2 27 27 30 32 34 35

2  E  xplanations of Figures and Case Reports with Individual   Therapeutic Options............................................................................................... 39 3  Index of Figures (Fig.) and CS with Syndromes (for Self-assessment)...........................   81 Appendix: Index of the Solutions to the Syndromes and Diagnostics   (for Rapid Diagnosis).................................................................................................................... 89 References ..................................................................................................................... 99 Abbreviations.....................................................................................................................................    101 Pictures With Major Syndromes of Rheumatology................................................... 105 Index������������������������������������������������������������������������������������������������������������������������������ 127



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Diagnostic Training and Rheumatology Trees

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1.1  The Pictures and Clinical Cases That Every Doctor Should Correctly Identify and Interpret These randomly numbered figures (Fig.) and possibly related, laconically arranged clinical situations (CS) – without anticipated results and superfluous findings – taken from our everyday rheumatology practice may, in our opinion, shape, enhance and train clinical and rheumatological expertise and thinking skills. The Fig. and CS represent, in equal measure, the rheumatological modules of medical training, and illustrative material on the subject and, if you wish, a challenge and appropriate homework for students. No ready answers or solutions are given with the Fig. and CS, for didactic reasons (anticipated findings diminish the educational value!). These Fig. and CS, with diagnoses, are integrated in the Rheumatology: Symptoms and Syndromes E. Benenson, Springer 2011 (RSS) with a description of the relevant syndromes and staged diagnostics. Chap. 2 provides explanations and comments on the pictures and CS in the order one by one. Chap.  3 gives you the opportunity to make your preliminary diagnosis (as a self-­ assessment check). Try to assign the illustrated syndromes, namely whether they are ­specific to a syndrome or condition (A), not specific to a disease (B), or disease-specific (C). Such structuring can be seen in Chaps. 2, 3 and in the Appendix. So the diagnostic reasoning were encouraged by active self-learning based on CS and figures, whereby a well-founded diagnosis will be established independently. Trees of Rheumatology (Chaps. 1.3 and 1.4) clearly show the concept and sequence of the diagnostic search. The Integrated Diagnostic Screening Program (see next page) is the key to structuring the findings and diagnostic reasoning for all clinical cases, for both the Figures (Question 1 and 2) and CS (all 4 issues).

Integrated Diagnostic Screening Program 1. Which structures are diseased? Applying a morphological structure to the available findings is crucial to finding the diagnosis 2. Are inflammatory or degenerative changes, among others, present in these structures? Here the findings are given a pathophysiological structure E. Benenson, Rheumatology, Clinical Scenarios, DOI: 10.1007/978-0-85729-240-7_1, © Springer-Verlag London Limited 2011

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3. Are there concomitant factors causing the changes, i.e., infections, excessive strain, trauma, tumors? Now we are at the stage of causal investigation 4. Are other organs and systems affected? In such a case extensive physical examination is needed, also on the part of other important specialist disciplines The reasoning of experienced physicians of all clinical disciplines is much the same. It is an essential key to the formulation of diagnostic criteria – which are mostly composed of syndromes – and ultimately the diagnosis itself. The Rheumatology: Symptoms and Syndromes (RSS*) specifies and applies such a program to “Articular and Musculoskeletal Disorders” (Chap. 6), “Connective Tissue Diseases and Vasculitis” (Chap. 13). *RSS – Rheumatology: Symptoms and Syndromes (E. Benenson, Springer 2011)

1.1.1  Pictures of the Major Syndromes in Rheumatology (Fig. 1–132, page onwards) 1.1.2  Clinical Situations (CS) Marked by Syndromes The CS, packed into the clear syndromes or figures (Fig.), are presented as a clinical ­problem to be solved, containing the clinical, immunological, morphological, and imaging information under classical or new therapeutic options. Not all Fig. and CS have an unequivocal solution, as is the case in clinical medicine, but all should waken a certain curiosity and encourage consideration, investigation, and discussion.

CS 1: Acute swelling and redness in the ankle joint in immunocompromised female patient, 42 years

• About 3 years’ observation of the patient with therapy-resistant (all admissible bio­

logics, 18 joint operations), definable disease (Figs. 5, 9a, b) UUAcute events (Fig. 6), emergency referral to outpatient clinic • Moderately elevated blood concentrations of CRP 15 mg/l (three times the normal value)* and ESR (36 mm/h). Ultrasound and joint puncture: no effusion. ACE and Il2r are within the normal range • X-ray chest: no adenopathy • Bacteriology: no bacteria in blood cultures • Serology – a fresh Yersinia infection (see RSS, Chap. 11.3.2).

1.1  The Pictures and Clinical Cases That Every Doctor Should Correctly Identify and Interpret

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**Additional question: What diseases or conditions will already be excluded?

UUemergency situations are marked with this symbol (×3, 4 … 15, etc.) indicates a 3, 4 … 15-fold increase of the parameter above the ­normal findings These additional questions will be discussed in Chap. 2.

CS 2: Puffy hands and high titer ANA in 26-year-old female patient

• Pain in the hands (Fig. 7), myalgia (for 3 years) • No organ involvement, only a light reduction of the DLCO (63%) • X-ray hands – no bone erosion (as in Fig. 72) , bone scans reveal no increased uptake #

(as in Fig. 65 on the right versus the left) • Laboratory findings: CRP 20 (×4), ESR 30 mm/h • Immune status: ANA 1:10,000; anti-dsDNA 167 (neg. 75 kU/l), Crithidia test negative. ENA: U1-RNP and anti-Sm positive, other antibodies, RF and anti-CCP negative.  dditional question: Is the diagnosis certain? A -----------------------------------------------------------------------------------------------------

CS 3: Acute claudicatio arteriosa in the form of weakness in the legs and lupus-type immunology in a 40-year-old female patient (56 years old at present)

UUAcute claudicatio arteriosa in the form of extreme weakness in the legs (not a single

step further without having to stop, no strength in the legs), cyanosis extending as far as the thighs UUEmergency angiogram (Fig.  12). Emergency operation for Y-prosthesis (stent) in abdominal aorta (16 years ago) • Adequate anticoagulation (phenprocoumon therapy) ever since, previous diagnosis of SLE • No organ involvement detected during the follow-up period (12 years) • Immunology: ANA, anti-dsDNA-Ab highly positive with negative Crithidia test, ACLA highly positive • Lab: ESR approx. 30 mm/h, CRP negative, lupus anticoagulant 74 s (normal 100,000/ml, leucocyturia • After intensive antibiotic therapy • Unstable course under therapy with Decortin® 15–20 mg and Myfortic® 360 mg daily × 4 tab. Additional questions: What disease or condition is likely? Is the complication specific to the  therapy? Make an entirely separate evaluation of the specificity of the clinical and immunological data.

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1  Diagnostic Training and Rheumatology Trees

CS 28: Arthritis of the finger joints, rheumatoid factors and appropriate (?) MTX therapy, male, 64 years

• Several years of pain and swelling in the finger joints (Fig. 81) • Six-month regulation of MTX treatment by a colleague • No signs of inflammation, RF 1:40 kU/l. Additional question: Is such a therapy diagnostically justified?

CS 29: Alopecia, acute abdominal pain and massive proteinuria, male, 27 years

• Six years ago: acutely developed arthritis, alopecia areata (Fig. 82), changes in the skin

of the face (as in Fig. 54), massive proteinuria UUSevere abdominal pain: pseudoileus due to adenopathy, surgery UUSevere abdominal pain: thrombosis of v. renalis • Serology: high ANA and anti-dsDNA-Ab titers, low level of C3–C4 • Nephrotic syndrome: proteinuria up to 9.0–10.0 g/24 h, hematuria, leg edema • Strong headaches, responding to diuretics.

CS 30: Pulmonary fibrosis, Raynaud’s syndrome, Scl70 positive, HAP with response, deterioration in general condition and drop in DLCO transfer, abnormal thorax CT, female 66 years

• Nicotine abuses up to 1990, signs of chronic bronchitis • Since 2003-increasing exertional dyspnea, Raynaud’s

syndrome, swallowing difficulties • Lung function: FEV1 75–60%, DLCO 45% (2003), in July 2007 – 55% • Immunology: ANA (1:1,000) with Scl-70 differentiation • Therapy: azathioprine in the form of HAP®(Benenson et al. 2005) (20 cycles, a total of approximately 52,000 mg), then CellCept 2,000 mg/day (3 months) • Since 09/2007 increasing fatigue, shortness of breath, swallowing difficulties, weight loss UUIn the hospital the following were noted: • Lung function: FEV1 54%, DLCO 33%, oxygen saturation at rest 93% • Chest CT (Fig. 85), auscultation of the lungs: bilateral basal sonorous crepitation. Additional questions: What is the disease? What are the risk factors for the second disease? Should the entire medical history be considered a paraneoplastic event, or are there two diseases? Should therapy with azathioprine be seen as a trigger?

CS 31: Multiorgan involvement and MRT of the ENT region under immunosuppression, male patient 62 years (Benenson et al. 2005)

• Heart (myocarditis), CNS (encephalitis) and ENT involvement, ANCA positivity • MRI of the sinuses after four cycles of CYC therapy (Fig. 86) • MRI of the sinuses after six cycles of HAP (Fig. 87)

1.1  The Pictures and Clinical Cases That Every Doctor Should Correctly Identify and Interpret

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• No coronary heart disease and stroke risk profile, stable course on MTX • Five weeks after stopping MTX the patient suffered a stroke with hemiparesis. Additional question: Should involvement of the central nervous system be suspected (RSS, Chap. 10.6) with a stable course under MTX?

CS 32: Arthritis, sicca syndrome and SS-A, CenpB- and anti-CCP antibodies, female, 67 years

• Problems with the hands for years (Fig. 89) with cold sensations • At the same time unstable dryness of the mouth and eyes • Lab findings: CRP (increased fourfold), ESR 36 mm/h • Immunology: 1:32,000 ANA, ENA subtype CenpB (>12,000), SS-A-Ab, Anti-CCP-Ab (> 200), RF (–)

• These constellations were interpreted by colleagues as a primary Sjogren’s syndrome • X-ray hands DIP 3–5 changes, calcinosis, even in the elbows • Slight swallowing difficulties and telangiectasia. Additional question: Which of four possible rheumatic diseases is involved?

CS 33: Multiple focal erythema, high ACE and pulmonary fibrosis, male patient, 42 years

• Skin changes (Fig. 90) in several parts of the body and head (about 2 years) • Morphologically: granulomatous inflammation • Chest X-ray (Fig. 91) • Lung function: DLCO-transfer factor of 62% (slight reduction), hepatosplenomegaly • Lab findings: no CRP, ACE approximately 2,400 U/ml (normal up to 40), Il2r approx. 3,800 U/ml (normal 750).

Additional questions: Could the granulomatous inflammation be non-specific in this case (as in CS 13, Fig. 36b) or present a different clinical picture with the same disease (Fig. 83)? Which of these two forms of granulomatous inflammation do respond better to corticoids?

CS 34: CYC-resistant nephrotic syndrome, unexplained subcutaneous involvement; activity and chronic indices from the perspective of renal biopsy, response to HAP, female, 52 years (Benenson et al. 2005)

• First disease symptoms (12 years ago): arthritis, pneumonia, then GN • Immunology: 1:10,000 ANA, anti-dsDNA-Ab 105.6 (positive > 75 kU/l), nucleosome

(81 RE/ml; normal