Table Of ContentRare 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:
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LauraMaddiiEmmi
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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
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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
