Diagnostic Criteria in Autoimmune Diseases Diagnostic Criteria in Autoimmune Diseases Yehuda Shoenfeld Tel-Aviv University, Tel-Aviv, Israel Ricard Cervera University of Barcelona, Barcelona, Catalonia, Spain M. Eric Gershwin University of California at Davis, Davis, CA, USA Editors With compliments of Editors Prof. Yehuda Shoenfeld Prof. Ricard Cervera Sheba Med. Center Hospital Clinic Dept. Medicine ‘‘B’’ Servei de Malalties 52 621 Tel-Hashomer Autoimmunes Israel Villarroel, 170 [email protected] 08036 Barcelona Catalonia, Spain [email protected] Prof. M. Eric Gershwin University of California at Davis School of Medicine Division of Rheumatology, Allergy, and Clinical Immunology Davis, CA 95616 USA [email protected] ISBN: 978-1-60327-284-1 (softcover) e-ISBN: 978-1-60327-285-8 ISBN: 978-1-60327-427-2 (hardcover) DOI: 10.1007/978-1-60327-285-8 Library of Congress Control Number: 2008933364 # 2008 Humana Press, a part of Springer Science+Business Media, LLC All rights reserved. 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The publisher makes no warranty, express or implied, with respect to the material contained herein. Printed on acid-free paper 987654321 springer.com Preface Autoimmune diseases are a family of more than 100 ill- strategies that arrest the autoimmune process before it nesses that develop when underlying defects in the immune can irreversibly damage the body, as also the ADCC system lead the body to attack its own organs, tissues, and points out. cells. While many of these diseases are rare, collectively But the first and most essential step in the management they affect, according to the Autoimmune Diseases Coor- of autoimmune diseases is, no doubt, the recognition of dinating Committee (ADCC) of the U.S. National Insti- the autoimmune disease itself by the attending physician. tutes of Health, between 14.7 and 23.5 million people in the Autoimmune diseases can affect any part of the body, and USA – up to 8% of the population – and their prevalence is have a myriad of clinical manifestations that make diag- rising. Because a complete cure is not available for nearly nosis an extremely difficult task. At the same time, auto- every one of these 100 autoimmune diseases, patients face a immune diseases share many features both at their onset lifetime of illness and treatment. And, because most of and during follow-up. In addition, overlapping genetic these diseases disproportionately afflict women, and are traits enhance susceptibilitytomanyofthediseases,so among the leading causes of death for young and middle- that a patient may suffer from more than one autoim- aged women, they impose a heavy burden on patients’ mune disorder, or multiple autoimmune diseases may families and on society. occur in the same family. For these reasons, major efforts in autoimmune disease Conversely, despite the diversity in their presentation research and development must be directed toward redu- and natural history, autoimmune diseases share a number cing the impact of these conditions. These efforts should of underlying mechanisms, and thus have the potential to include, among other goals and again according to the respond to treatment with the same or related therapies. ADCC, the generation of more accurate epidemiologic More selective and less toxic immunosuppressive and profiles of autoimmune diseases, the development of a immunomodulatory agents are currently being used to greater understanding of the fundamental biologic princi- treat these disorders, and promising immune tolerance ples underlying disease onset and progression, the provi- approaches are emerging. However, several factors limit sion of improved diagnostic tools to permit preclinical or our ability to conduct the most efficient clinical trials. For presymptomatic diagnosis, the creation of more effective example, we lack standardized classification and diagnos- interventions, and the production of public and profes- tic criteria for many autoimmune diseases. sional education and training programs. These problems have prompted us to gather in a com- For instance, the development of biomarkers can prehensive book a critical review of 103 autoimmune dis- enable earlier diagnosis as well as aid physicians in select- eases, dividing them into two main groups, namely ing and monitoring treatment. New technologies, such as systemic and organ-specific autoimmune diseases. We genomics and proteomics, can provide scientists with the hope to offer a contemporary overview of these conditions tools to study gene and protein patterns in tissue samples, with special emphasis on diagnosis. Each chapter contains providing vital insights into the onset and progression of the essential information required by attending physicians disease. However, we also need to gain a better under- as well as bench scientists to understand the definition of a standing of the distribution of these diseases through specific autoimmune disease, the diagnostic criteria, and epidemiologic studies, and of the environmental triggers the treatment. Moreover, established classification and that contribute to their onset. As we learn more about the diagnostic criteria have been quoted when available and, genetic and environmental factors contributing to these if not, authors have been asked to propose such criteria. diseases,wewillbeabletodevelop effective prevention Diagnostic Criteria in Autoimmune Diseases was conceived v vi Preface for publication and debut on the occasion of the Sixth special thanks to Kathy Wisdom for her devotion and International Congress of Autoimmunity to be held in zeal in helping us to put this volume together. Porto, Portugal, on September 2008. Finally, and most importantly, this text is dedicated to We have tried to produce a book of considerable intel- the sufferers of autoimmune diseases in the hope that they lectual caliber and this would not have occurred without some day will be cured. the enthusiastic support of the authors. We wish to thank Yehuda Shoenfeld Richard Lansing and his staff at Springer for their hard Ricard Cervera work. The editors and all the contributors also extend M. Eric Gershwin Contents Preface.................................................................................... v Contributors . xiii I. CLASSICAL SYSTEMIC AUTOIMMUNE DISEASES 1 Systemic Lupus Erythematosus . 3 Maria Laura Bertolaccini, Graham R.V. Hughes and Munther A. Khamashta 2 Antiphospholipid Syndrome . 9 Ricard Cervera and Ronald A. Asherson 3 Rheumatoid Arthritis . 15 Claudio Galarza-Maldonado, Loreto Massardo, Bernardo Pons–Estel and Mario H. Cardiel 4 Macrophage Activation Syndrome in Juvenile Idiopathic Arthritis . 21 Yackov Berkun and Shai Padeh 5 Adult Still Disease . 25 Alon Eisen and Howard Amital 6 Systemic Sclerosis . 31 Jennifer G. Walker and Marvin J. Fritzler 7Sjogren€ Syndrome . 37 Dimitris Mitsias and Haralampos M. Moutsopoulos 8 Mixed Connective Tissue Disease . 43 Marta Mosca, Rosaria Talarico and Stefano Bombardieri 9 Relapsing Polychondritis . 47 Mauro Galeazzi and Giovanni Porciello 10 Raynaud Phenomenon . 53 Mario Garcı´a-Carrasco, Mario Jime´nez-Herna´ndez, Ricardo O. Esca´rcega, Ivet Etchegaray-Morales and Juan Carlos Pe´rez-Alva 11 Drug-Induced Autoimmunity . 59 Martine Szyper-Kravitz and Yehuda Shoenfeld 12 The Multiple Autoimmune Syndromes . 65 Juan-Manuel Anaya, John Castiblanco and Adriana Rojas-Villarraga vii viii Contents II. SYSTEMIC VASCULITIS 13 Giant Cell Arteritis . 73 Gideon Nesher 14 Polymyalgia Rheumatica . 77 Gideon Nesher 15 Takayasu Arteritis . 81 Rosa Maria Rodrigues Pereira, Joze´lio Freire de Carvalho, Maurı´cio Levy-Neto and Eloı´sa Bonfa´ 16 Polyarteritis Nodosa . 87 Jose´ Herna´ndez-Rodrı´guez and Maria C. Cid 17 Microscopic Polyangiitis . 93 Cees G.M. Kallenberg 18 Wegener Granulomatosis . 99 Julia U. Holle, Elena Csernok and Wolfgang L. Gross 19 Churg-Strauss Syndrome. 103 Philippe Guilpain and Loic Guillevin 20 Buerger Disease . 107 Michael Ehrenfeld and Raphael Adar 21 Behc¸et Disease . 113 Gerard Espinosa 22 Susac Syndrome. 117 Manuel Francisco Ugarte and Ricard Cervera 23 Goodpasture Disease . 121 Thomas Hellmark and Ma˚rten Segelmark 24 Kawasaki Disease . 125 Jordi Anton and Rosa Bou 25 Cogan Syndrome . 129 Aharon Kessel and Elias Toubi 26 Henoch-Shoenlein Purpura . 133 Margalit Lorber 27 Cryoglobulinemic Syndrome . 137 Suk Seo and Natalie Julia To¨ro¨k 28 Hypersensitivity Angiitis . 141 Shimon Pollack III. IDIOPATHIC INFLAMMATORY MYOPATHIES 29 Polymyositis. 149 Georgina Espı´gol and Josep M. Grau 30 Dermatomyositis . 153 Andrea Doria, Chiara Briani, Anna Ghirardello, Sandra Zampieri, Piercarlo Sarzi-Puttini and Riccardo Rondinone 31 Clinically Amyopathic Dermatomyositis . 159 Richard D. Sontheimer, Pedram Gerami and Hobart W. Walling Contents ix 32 Sporadic Inclusion Body Myositis. 165 Josep M. Grau and.