Diagnostic Criteria in Autoimmune Diseases PDF
Preview Diagnostic Criteria in Autoimmune Diseases
Diagnostic Criteria in Autoimmune Diseases Diagnostic Criteria in Autoimmune Diseases Yehuda Shoenfeld Tel-AvivUniversity,Tel-Aviv,Israel Ricard Cervera UniversityofBarcelona,Barcelona,Catalonia,Spain M. Eric Gershwin UniversityofCaliforniaatDavis,Davis,CA,USA Editors With compliments of Editors Prof.YehudaShoenfeld Prof.RicardCervera ShebaMed.Center HospitalClinic Dept.Medicine‘‘B’’ ServeideMalalties 52621Tel-Hashomer Autoimmunes Israel Villarroel,170 [email protected] 08036Barcelona Catalonia,Spain [email protected] Prof.M.EricGershwin UniversityofCaliforniaatDavis SchoolofMedicine DivisionofRheumatology, Allergy,andClinicalImmunology Davis,CA95616 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 LibraryofCongressControlNumber:2008933364 #2008HumanaPress,apartofSpringerScience+BusinessMedia,LLC Allrightsreserved.Thisworkmaynotbetranslatedorcopiedinwholeorinpartwithoutthewrittenpermissionofthepublisher(HumanaPress,999Riverview Drive,Suite208,Totowa,NJ07512USA),exceptforbriefexcerptsinconnectionwithreviewsorscholarlyanalysis.Useinconnectionwithanyformof informationstorageandretrieval,electronicadaptation,computersoftware,orbysimilarordissimilarmethodologynowknownorhereafterdevelopedis forbidden. Theuseinthispublicationoftradenames,trademarks,servicemarks,andsimilarterms,eveniftheyarenotidentifiedassuch,isnottobetakenasan expressionofopinionastowhetherornottheyaresubjecttoproprietaryrights. Whiletheadviceandinformationinthisbookarebelievedtobetrueandaccurateatthedateofgoingtopress,neithertheauthorsnortheeditorsnorthe publishercanacceptanylegalresponsibilityforanyerrorsoromissionsthatmaybemade.Thepublishermakesnowarranty,expressorimplied,withrespect tothematerialcontainedherein. Printedonacid-freepaper 9 8 7 6 5 4 3 2 1 springer.com Preface Autoimmune diseases are a family of more than 100 ill- strategies that arrest the autoimmune process before it nessesthatdevelopwhenunderlyingdefectsintheimmune can irreversibly damage the body, as also the ADCC systemleadthebodytoattackitsownorgans,tissues,and pointsout. cells. While many of these diseases are rare, collectively Butthefirstandmostessentialstepinthemanagement theyaffect,accordingtotheAutoimmuneDiseasesCoor- of autoimmune diseases is, no doubt, the recognition of dinating Committee (ADCC) of the U.S. National Insti- theautoimmunediseaseitselfbytheattendingphysician. tutesofHealth,between14.7and23.5millionpeopleinthe Autoimmunediseasescanaffectanypartofthebody,and USA–upto8%ofthepopulation–andtheirprevalenceis haveamyriadofclinicalmanifestationsthatmakediag- rising.Becauseacompletecureisnotavailablefornearly nosisanextremelydifficulttask.Atthesametime,auto- everyoneofthese100autoimmunediseases,patientsfacea immunediseasessharemanyfeaturesbothattheironset 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 susceptibility to many of the diseases, so amongtheleadingcausesofdeathforyoungandmiddle- 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 familiesandonsociety. occurinthesamefamily. Forthesereasons,majoreffortsinautoimmunedisease Conversely, despite the diversity in their presentation research and development must be directed toward redu- andnaturalhistory,autoimmunediseasesshareanumber cing the impact of these conditions. These efforts should ofunderlyingmechanisms,andthushavethepotentialto 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 greaterunderstandingofthefundamentalbiologicprinci- treat these disorders, and promising immune tolerance ples underlying disease onset and progression, the provi- approaches are emerging. However, several factors limit sion ofimproveddiagnostictools topermit preclinicalor ourabilitytoconductthemostefficientclinicaltrials.For presymptomatic diagnosis, the creation of more effective example,welackstandardizedclassificationanddiagnos- interventions, and the production of public and profes- ticcriteriaformanyautoimmunediseases. sionaleducationandtrainingprograms. These problems have prompted us to gather in a com- For instance, the development of biomarkers can prehensivebook acritical reviewof103autoimmunedis- enableearlierdiagnosisaswellasaidphysiciansinselect- eases, dividing them into two main groups, namely ingandmonitoringtreatment.Newtechnologies,suchas systemic and organ-specific autoimmune diseases. We genomicsandproteomics,canprovidescientistswiththe hopetoofferacontemporaryoverviewoftheseconditions toolstostudygeneandproteinpatternsintissuesamples, withspecialemphasisondiagnosis.Eachchaptercontains providingvitalinsightsintotheonsetandprogressionof theessentialinformationrequiredbyattendingphysicians disease. However, we also need to gain a better under- aswellasbenchscientiststounderstandthedefinitionofa 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 thatcontributetotheironset.Aswelearnmoreaboutthe 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, we will be able to develop effective prevention DiagnosticCriteriainAutoimmuneDiseaseswasconceived 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 zealinhelpingustoputthisvolumetogether. Porto,Portugal,onSeptember2008. Finally, and most importantly, this text is dedicated to We have triedto produceabook ofconsiderableintel- thesufferersofautoimmunediseasesinthehopethatthey lectual caliber and this would not have occurred without somedaywillbecured. theenthusiasticsupportoftheauthors.Wewishtothank YehudaShoenfeld Richard Lansing and his staff at Springer for their hard RicardCervera work. The editors and all the contributors also extend M.EricGershwin Contents Preface.................................................................................... v Contributors ............................................................................... xiii I.CLASSICALSYSTEMICAUTOIMMUNEDISEASES 1 SystemicLupusErythematosus............................................................. 3 MariaLauraBertolaccini,GrahamR.V.Hughes andMuntherA.Khamashta 2 AntiphospholipidSyndrome ............................................................... 9 RicardCerveraandRonaldA.Asherson 3 RheumatoidArthritis .................................................................... 15 ClaudioGalarza-Maldonado,LoretoMassardo,BernardoPons–EstelandMarioH.Cardiel 4 MacrophageActivationSyndromeinJuvenileIdiopathicArthritis................................. 21 YackovBerkunandShaiPadeh 5 AdultStillDisease....................................................................... 25 AlonEisenandHowardAmital 6 SystemicSclerosis ....................................................................... 31 JenniferG.WalkerandMarvinJ.Fritzler 7 Sjo€grenSyndrome ....................................................................... 37 DimitrisMitsiasandHaralamposM.Moutsopoulos 8 MixedConnectiveTissueDisease ........................................................... 43 MartaMosca,RosariaTalaricoandStefanoBombardieri 9 RelapsingPolychondritis.................................................................. 47 MauroGaleazziandGiovanniPorciello 10 RaynaudPhenomenon ................................................................... 53 MarioGarcı´a-Carrasco,MarioJime´nez-Herna´ndez,RicardoO.Esca´rcega,IvetEtchegaray-Morales andJuanCarlosPe´rez-Alva 11 Drug-InducedAutoimmunity .............................................................. 59 MartineSzyper-KravitzandYehudaShoenfeld 12 TheMultipleAutoimmuneSyndromes....................................................... 65 Juan-ManuelAnaya,JohnCastiblancoandAdrianaRojas-Villarraga vii viii Contents II.SYSTEMICVASCULITIS 13 GiantCellArteritis ...................................................................... 73 GideonNesher 14 PolymyalgiaRheumatica.................................................................. 77 GideonNesher 15 TakayasuArteritis....................................................................... 81 RosaMariaRodriguesPereira,Joze´lioFreiredeCarvalho,Maurı´cioLevy-NetoandEloı´saBonfa´ 16 PolyarteritisNodosa ..................................................................... 87 Jose´Herna´ndez-Rodrı´guezandMariaC.Cid 17 MicroscopicPolyangiitis .................................................................. 93 CeesG.M.Kallenberg 18 WegenerGranulomatosis ................................................................. 99 JuliaU.Holle,ElenaCsernokandWolfgangL.Gross 19 Churg-StraussSyndrome.................................................................. 103 PhilippeGuilpainandLoicGuillevin 20 BuergerDisease......................................................................... 107 MichaelEhrenfeldandRaphaelAdar 21 Behc¸etDisease.......................................................................... 113 GerardEspinosa 22 SusacSyndrome......................................................................... 117 ManuelFranciscoUgarteandRicardCervera 23 GoodpastureDisease..................................................................... 121 ThomasHellmarkandMa˚rtenSegelmark 24 KawasakiDisease ....................................................................... 125 JordiAntonandRosaBou 25 CoganSyndrome........................................................................ 129 AharonKesselandEliasToubi 26 Henoch-ShoenleinPurpura................................................................ 133 MargalitLorber 27 CryoglobulinemicSyndrome............................................................... 137 SukSeoandNatalieJuliaTo¨ro¨k 28 HypersensitivityAngiitis .................................................................. 141 ShimonPollack III.IDIOPATHICINFLAMMATORYMYOPATHIES 29 Polymyositis............................................................................ 149 GeorginaEspı´golandJosepM.Grau 30 Dermatomyositis ........................................................................ 153 AndreaDoria,ChiaraBriani,AnnaGhirardello,SandraZampieri,PiercarloSarzi-Puttini andRiccardoRondinone 31 ClinicallyAmyopathicDermatomyositis ..................................................... 159 RichardD.Sontheimer,PedramGeramiandHobartW.Walling Contents ix 32 SporadicInclusionBodyMyositis........................................................... 165 JosepM.GrauandAlbertSelva-O’Callaghan 33 AntisynthetaseSyndrome ................................................................. 169 IraN.Targoff 34 GranulomatousMyositis.................................................................. 175 SergioPrietoandJosepM.Grau 35 EosinophilicMyositis .................................................................... 179 AlbertSelva-O’CallaghanandJosepM.Grau 36 EosinophilicFasciitis..................................................................... 183 AlbertSelva-O’CallaghanandJosepM.Grau IV.OTHERIMMUNE-MEDIATEDSYSTEMICDISEASES 37 Sarcoidosis............................................................................. 189 JuanMan˜a´ 38 Spondyloarthropathies ................................................................... 195 MichaelEhrenfeld 39 PeriodicFeverSyndromes................................................................. 201 ShaiPadehandYackovBerkun 40 FibromyalgiaSyndrome .................................................................. 209 ArnsonYoav,DvorishZamir,AmitalDanielaandAmitalHoward V.ENDOCRINEANDREPRODUCTIVEAUTOIMMUNEDISEASES 41 HashimotoThyroiditis ................................................................... 217 RobertoRocchi,NoelR.RoseandPatrizioCaturegli 42 AtrophicThyroiditis ..................................................................... 221 LuisJ.Jara,OlgaVera-LastraandGabrielaMedina 43 SubacuteThyroiditis ..................................................................... 227 YemilAtisha-FregosoandMarioGarcia-Carrasco 44 GravesDisease.......................................................................... 231 FrancescaMenconi,YaelL.OppenheimandYaronTomer 45 PostpartumThyroiditis ................................................................... 237 AlexStagnaro-Green 46 AutoimmuneDiabetesMellitus............................................................. 241 Felicia HanzuandRamonGomis 47 AutoimmuneAddisonDiseaseorAutoimmuneAdrenalitis ...................................... 251 Joze´lioFreiredeCarvalhoandRodrigoAntonioBranda˜oNeto 48 AutoimmuneHypophysitis ................................................................ 255 DariaLaTorre,AlbertoFalorni,ElenaBartoloniBocciandRobertoGerli 49 AutoimmuneParathyroidDisease .......................................................... 259 CorradoBetterle 50 AutoimmunePolyendocrineSyndromes...................................................... 265 AngelaTincani,AngelaCeribelli,IlariaCavazzana,FrancoFranceschini,AlbertoSulli andMaurizioCutolo 51 Endometriosis .......................................................................... 271 MaurizioCutoloandSimoneFerrero x Contents 52 AutoimmuneOvarianFailure.............................................................. 277 FranciscoCarmona 53 AutoimmuneOrchitis .................................................................... 281 ClovisArturA.Silva,EduardoFerreiraBorba,MarcelloCocuzza,Joze´lioFreiredeCarvalhoandEloı´saBonfa´ VI.HEPATOBILIARYANDPANCREATICAUTOIMMUNEDISEASES 54 AutoimmuneHepatitis ................................................................... 287 MiguelBruguera 55 PrimaryBiliaryCirrhosis.................................................................. 291 CarloSelmiandM.EricGershwin 56 PrimarySclerosingCholangitis............................................................. 295 SharonjeetSanghaandChristopherL.Bowlus 57 ExtrahepaticManifestationsinPatientswithChronicHepatitisCVirusInfection..................... 301 PilarBrito-Zero´n,AlbertBove´andManuelRamos-Casals 58 AutoimmunePancreatitis ................................................................. 307 SalvadorNavarroandFrancescBalaguer VII.GASTROINTESTINALAUTOIMMUNEDISEASES 59 AutoimmuneGastritis.................................................................... 315 Ban-HockToh,SengaWhittinghamandFrankAlderuccio 60 UlcerativeColitis........................................................................ 323 KarstenConradandMartinW.Laass 61 InflammatoryBowelDisease............................................................... 329 MiquelSansandCarolinaFigueroa 62 CeliacDisease .......................................................................... 335 NicolaBizzaroandElioTonutti VIII.CUTANEOUSAUTOIMMUNEDISEASES 63 CutaneousLupusErythematosus ........................................................... 341 AnnegretKuhn,VincentRulandandGiselaBonsmann 64 PemphigusandBullousPemphigoid......................................................... 349 DanielMimouniandMichaelDavid 65 Vitiligo................................................................................ 353 SharonBaum,AvivBarzilaiandHenriTrau 66 PsoriaticArthropathy .................................................................... 359 GlebSlobodinandEliasToubi IX.CARDIOVASCULARANDPULMONARYAUTOIMMUNEDISEASES 67 AutoimmuneDilatedCardiomyopathy ...................................................... 367 UdiNussinovitchandYehudaShoenfeld 68 AreAutoimmuneManifestationsinHumanDilatedCardiomyopathyPrimaryorSecondaryEvents? ..... 373 LaraElizabethPereiraandAftabAhmedAnsari 69 RheumaticFever ........................................................................ 379 YanivShererandYehudaShoenfeld
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