Behçet's Syndrome: From Pathogenesis to Treatment PDF
Preview Behçet's Syndrome: From Pathogenesis to Treatment
Rare Diseases of the Immune System Series Editors: Lorenzo Emmi · Domenico Prisco Lorenzo Emmi Editor Behçet's Syndrome From Pathogenesis to Treatment Rare Diseases of the Immune System Series editors Lorenzo Emmi Domenico Prisco Editorial Board Systemic Vasculitis L. Emmi C. Salvarani R. A. Sinico Autoimmune Disease P. L. Meroni D. Roccatello M. Matucci Cerinic L. Emmi Autoinflammatory Syndromes M. Gattorno F. De Benedetti R. Cimaz Primary Immunodeficiency A. Plebani C. T. Baldari M. M. D’Elios For furthervolumes: http://www.springer.com/series/11643 Sentiero LauraMaddiiEmmi (Privatecollection) Lorenzo Emmi Editor Behc¸et’s Syndrome From Pathogenesis to Treatment 123 Editor LorenzoEmmi SODPatologia Medica,Center forAutoimmune Systemic Diseases Behçet Center and LupusClinic—AOUCareggi Florence Italy ISSN 2282-6505 ISSN 2283-6403 (electronic) ISBN 978-88-470-5476-9 ISBN 978-88-470-5477-6 (eBook) DOI 10.1007/978-88-470-5477-6 SpringerMilanHeidelbergNewYorkDordrechtLondon LibraryofCongressControlNumber:2013954566 (cid:2)Springer-VerlagItalia2014 Thisworkissubjecttocopyright.AllrightsarereservedbythePublisher,whetherthewholeorpartof the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation,broadcasting,reproductiononmicrofilmsorinanyotherphysicalway,andtransmissionor informationstorageandretrieval,electronicadaptation,computersoftware,orbysimilarordissimilar methodology now known or hereafter developed. Exempted from this legal reservation are brief excerpts in connection with reviews or scholarly analysis or material supplied specifically for the purposeofbeingenteredandexecutedonacomputersystem,forexclusiveusebythepurchaserofthe work. Duplication of this publication or parts thereof is permitted only under the provisions of theCopyright Law of the Publisher’s location, in its current version, and permission for use must always be obtained from Springer. Permissions for use may be obtained through RightsLink at the CopyrightClearanceCenter.ViolationsareliabletoprosecutionundertherespectiveCopyrightLaw. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publicationdoesnotimply,evenintheabsenceofaspecificstatement,thatsuchnamesareexempt fromtherelevantprotectivelawsandregulationsandthereforefreeforgeneraluse. While the advice and information in this book are believed to be true and accurate at the date of publication,neithertheauthorsnortheeditorsnorthepublishercanacceptanylegalresponsibilityfor anyerrorsoromissionsthatmaybemade.Thepublishermakesnowarranty,expressorimplied,with respecttothematerialcontainedherein. Printedonacid-freepaper SpringerispartofSpringerScience+BusinessMedia(www.springer.com) Preface 1 About 30 years ago, I started to be in confidence with Behçet syndrome; at that timeonlyafewlinesinallthemajortextsofInternalMedicinewerededicatedto this entity, not only in Italy. As I look back to those times when Dr. Ignazio Olivieri and some other friends talked to me, for the first time, about Behçet Syndrome, it seems to me extraordinary to be here writing this preface. In a few years, we have moved from those few lines to write an entire book solelyonBehçetwithsomeoftheworld’sleadingexpertsinthisfieldfromallthe relevant specialties, thus confirming the tremendous growing of knowledge, interest, and the social burden of this disease. Furthermore in recent years it has become increasingly clear that Behçet is a protean multisystemic disease with some unique features, representing a link between autoimmunity across vasculitis to autoinflammation; moreover Behçet syndrome is perhaps the only disease in which vascular involvement needs immunosuppressive treatments rather than anticoagulation, representing the pro- totype of inflammation-related thrombosis and our main field of interest in recent years. Mytrueanddeepestgratitudegoestoeverybodywhohelpedmetorealizethis work, and especially to Prof. Domenico Prisco, my co-Editor in this important Series of books about the Rare Diseases of the Immune System, and to all the colleagues of the SOD Patologia Medica. IwouldliketothanksalltheAuthorsofthisbookwhoacceptedthischallenge. Moreover a special thanks to Springer Verlag for this exciting opportunity. I also wish to thank the Italian Behçet Syndrome Association (SIMBA), its PresidentAlessandraDelBianco,allthemembersandsupportersfortheirsupport. Finally, thanks to all the patients who trust us. A big thanks also to my dear friends, Gill and Piero, and Cristina, for their precious advice. Lorenzo Emmi v Preface 2 Thanks to ten Behçet disease patients and also Internet, 7 years ago the Italian Behçet patients Association SIMBA Onlus was established and our dream came true. Together we share experiences, information about this rare disease, try to overcome loneliness. Our Association has grown in numbers and importance during these years. SIMBA Onlus focused its efforts especially on reducing the diagnostic delay, which until recently, could even take a few years. Now, we are happy to say that many things have changed, the period taken for diagnosing the symptoms has became a lot shorter, currently we are talking about months. This result makes a big difference for the patients and we are very proud of it. Moreoverwedorecognizethatmuchhasbeendonebut,ofcourse,thereisstill always more to do! Our next goal will be to identify those symptoms not criteria, which however aresooftenreportedbythepatientswithBehcet.Itisstillverycomplicatedbeing able to find a specific diagnosis for a rare disease, but we know in what we trust, and we believe that the Association of Patients can really make the difference. SIMBA Onlus works for an equal access of care for all Italian patients with Behçet disease, therefore our first aim is improving a quality information among patients,families,anddoctors,throughourwebsite,agroupaccountonfacebook, and online newsletters; we also have a representative for each region available to informaboutBehçet,itstreatmentandthereferencecarecenters.Finally,wehave contactwithalltheBehçet’sassociationsworldwide,cooperatingforanesperanto about this disease. Another main target is fundraising for our projects and research; in particular SIMBA Onlus supports all the multidisciplinary healthcare projects. It is very hard tokeep anAssociation alive, butdespite everything,despite the disease, we can move forward together, growing up. Thanks to all those people who support us allowing us to work together every day: because together we can! Alessandra Del Bianco vii Contents 1 The Numbers of Behçet: A Rare Disease?. . . . . . . . . . . . . . . . . . 1 Agata Polizzi and Domenica Taruscio 2 From Hippocrates to Hulusi Behçet: What History . . . . . . . . . . . 5 Donatella Lippi 3 Epidemiology of Behçet Syndrome . . . . . . . . . . . . . . . . . . . . . . . 17 Olga Addimanda, Giulia Pazzola, Nicolò Pipitone and Carlo Salvarani 4 Behçet’s Syndrome According to Classical and Population Genetics. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 25 Akira Meguro, Nobuhisa Mizuki, Ahmet Gül, Nobuyoshi Kitaichi and Shigeaki Ohno 5 Infections, Autoimmunity, and Behçet’s Syndrome: What Liaison? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 39 Mario Milco D’Elios, Marisa Benagiano, Amedeo Amedei and Giacomo Emmi 6 Pathogenesis of Behçet Syndrome. . . . . . . . . . . . . . . . . . . . . . . . 53 Giacomo Emmi, Danilo Squatrito, Elena Silvestri, Alessia Grassi and Lorenzo Emmi 7 Mucocutaneous Involvement in Behçet’s Syndrome. . . . . . . . . . . 67 Umit Tursen 8 Neurological and Neuropsychological Manifestation in Behçet’s Syndrome. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 83 Shunsei Hirohata 9 Ocular Involvement and Behçet Disease . . . . . . . . . . . . . . . . . . . 97 Lorenzo Vannozzi, Ugo Menchini and Massimo Accorinti ix x Contents 10 Articular and Muscular Manifestations in Behçet’s Disease. . . . . 117 Anne-Claire Desbois, Betrand Wechsler and David Saadoun 11 Cardiovascular Issues: Aneurysms and Pseudoaneurysms, Thrombosis, Atherosclerosis, and Cardiac Involvement . . . . . . . . 125 Elena Silvestri, Caterina Cenci, Chiara Della Bella, Anna Maria Cameli and Domenico Prisco 12 Intestinal Behçet Disease. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 137 Cristina Cenci and Monica Milla 13 Audio Vestibular Involvement in Behçet’s Disease. . . . . . . . . . . . 151 Paolo Vannucchi and Rudi Pecci 14 Behçet’s Syndrome and Gynecological Manifestation in Reproductive Age and Pregnancy. . . . . . . . . . . . . . . . . . . . . . 155 Maria Elisabetta Coccia and Tommaso Capezzuoli 15 Pediatric Onset of Behçet Syndrome. . . . . . . . . . . . . . . . . . . . . . 165 Ezgi Deniz Batu, Rolando Cimaz and Seza Özen 16 Behçet’s Disease. Differential Diagnosis. . . . . . . . . . . . . . . . . . . . 177 Maria Grazia Sabbadini and Stefano Franchini 17 Classification and Diagnosis Criteria for Behçet’s Disease . . . . . . 189 Fereydoun Davatchi, Bahar Sadeghi Abdollahi, Farhad Shahram, Cheyda Chams-Davatchi, Hormoz Shams and Abdolhadi Nadji 18 Prognosis and Disease Activity . . . . . . . . . . . . . . . . . . . . . . . . . . 199 Rosaria Talarico, Anna d’Ascanio, Rossella Neri, Chiara Baldini, Marta Mosca and Stefano Bombardieri 19 Old and New Treatment for Behçet’s Disease . . . . . . . . . . . . . . . 207 Fabrizio Cantini and Gerardo Di Scala 20 Surgical Treatment of Angio-Behçet . . . . . . . . . . . . . . . . . . . . . . 217 Stefano Camparini and Genadi Genadiev Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 227 The Numbers of Behc¸et: A Rare 1 Disease? Agata Polizzi and Domenica Taruscio In the European Union (EU) countries, a disease is considered rare when it has a low prevalence: i.e. when it affects less than 5 individuals in 10,000. That means whichapproximately30millionofpeopleareaffectedbyararediseasethroughout Europe:i.e. from 6 to 8 %ofthe general European population, on a total number of rare conditions estimated at about 6,000–8,000 [1]. Numbers of Behçet disease (BD) reveals significant regional differences: the diseaseismorefrequentalongtheMediterranean,MiddleEasternandFarEastern areas with its highest prevalence rates in Turkey (e.g. 400:100,000 individuals) where BD cannot be regarded as a rare condition. Conversely, in other European countries (e.g. United Kingdom, Spain, Sweden, or Portugal) the numbers are lower with prevalence rates ranging from 0.3 to 6.4 per 100,000 persons [2, 3]. These figures allow BD to be brought within the definition of a rare condition. Although rare diseases are very heterogeneous, people with rare conditions share a number of similar experiences despite their different diseases. Overall, a fewcommonkeyfeaturesdoexist.Morethan80 %ofrarediseasesarecausedby genetic defects, in most cases the onset is in the paediatric age and the natural historyisoftenthatofachronicanddisablingconditionwithahighpsychological, socialandeconomicburdenaffectingthedailylifeofpatientsandtheirfamilies.A multisystem involvement is frequent: the nervous system being most commonly affected. Due to their complexity, a team of interdisciplinary experts is necessary A.Polizzi(cid:2)D.Taruscio(&) NationalCentreforRareDiseases,IstitutoSuperiorediSanità,VialeReginaElena,299,00161, Rome,Italy e-mail:[email protected] A.Polizzi e-mail:[email protected] L.Emmi(ed.),Beh(cid:2)cet’sSyndrome,RareDiseasesoftheImmuneSystem, 1 DOI:10.1007/978-88-470-5477-6_1,(cid:2)Springer-VerlagItalia2014
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