r e v b r a s r e u m a t o l . 2016;56(1):1
w w w . r e u m a t o l o g i a . c o m . b r
REVISTA
BRASILEIRA
DE
REUMATOLOGIA
Editorial
Autoinflammatory
syndromes:
rare
diseases
with
important
implications
in
quality
of
life
Síndromes
autoinflamatórias:
doenc¸as
raras
com
comprometimento
importante
da
qualidade
de
vida
The systemic autoinflammatory syndromes often present with recurrent fevers and high inflammatory markers. In the last decades, autoinflammatory syndromes have been increasingly recognized and the identification of genetic mutationshashelpednotonlythediagnosisbutalsoto under-standtherole ofinflammasomeand oftheinnateimmune system. Diagnosis relies on clinical suspicion followed by genetictesting.
In this edition, the members of the Brazilian Pediatric RheumatologyCommitteehaveelaboratedthreepublications reviewing consensus on diagnosis and treatment of three important systemic autoinflammatory syndromes: Famil-ial Mediterranean fever (FMF), Periodic Fever, Aphthous Stomatitis,Pharyngitis,and AdenopathySyndrome (PFAPA) andcryopyrinopathies.1–3 Althoughextremelyrare,theyare
importanttoberecognized,asmanycannowbecompletely controlledbylong-termdrugtherapies.
The consensus emphasizes the importance of clinical suspicions in patients with recurrent or continuous signs ofsystemicinflammationin theabsence ofinfections and malignancies.1–3 Durationoffeverand concomitantclinical
manifestationsare importantfeatures for diagnosis. Labo-ratoryinvestigation isusuallyunspecific,revealingsigns of systemicinflammation.Althoughgenetictestingiscostlyand notwidelyavailable,it isoften thekey toestablish defini-tivediagnosisinFMFandcryopyrinopathies.2,3 However,up
todatemorethan150mutationshavebeendescribedineach ofthediseaseandnewmutationsareconstantlybeing pub-lished.
Treatmenthasshowntobeeffectiveandreducelong-term complications such as amyloidosis. First line treatment is colchicineinFMFandprednisoneinPFAPA.1,3IL1inhibitors
havebeenusefullyusedincryopyrinopathies,andhavebeen described incaseseries andcasereportsinother systemic autoinflammatorydiseases.1,2
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1.TerreriMT,BernardoWM,LenCA,SilvaCA,MagalhãesCM, SacchettiSB,etal.Diretrizesdecondutaetratamentode síndromesfebrisperiódicas.Síndromedefebreperiódica, estomatiteaftosa,faringiteeadenite.RevBrasReumatol.2015.
2.TerreriMT,BernardoWM,LenCA,SilvaCA,MagalhãesCM, SacchettiSB,etal.Diretrizesdecondutaetratamentode síndromesfebrisperiódicas:Síndromesperiódicasassociadas àcriopirina(Criopirinopatias–CAPS).RevBrasReumatol.2015.
3.TerreriMT,BernardoWM,LenCA,SilvaCA,MagalhãesCM, SacchettiSB,etal.Diretrizesdecondutaetratamentode síndromesfebrisperiódicas:FebreFamiliardoMediterrâneo. RevBrasReumatol.2015.
SimoneAppenzellera,∗,AlbertoMartinib,c aRheumatologyDiscipline,FaculdadedeCienciasMédicas,
UniversidadeEstadualdeCampinas(UNICAMP),Campinas,SP, Brazil bUniversityofGenoa,Genoa,Italy
cTheEuropeanLeagueAgainstRheumatism(EULAR),GGaslini
Institute,Genoa,Italy
∗Correspondingauthor.
E-mail:appenzellersimone@yahoo.com(S.Appenzeller). 2255-5021/©2015ElsevierEditoraLtda.Allrightsreserved.
