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2016 ; 9
(ä): 13-20
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Familial Mediterranean fever: current perspectives
#MMPMID27051312
Sönmez HE
; Batu ED
; Özen S
J Inflamm Res
2016[]; 9
(ä): 13-20
PMID27051312
show ga
Familial Mediterranean fever (FMF) is the most frequent monogenic
autoinflammatory disease, and it is characterized by recurrent attacks of fever
and polyserositis. The disease is associated with mutations in the MEFV gene
encoding pyrin, which causes exaggerated inflammatory response through
uncontrolled production of interleukin 1. The major long-term complication of FMF
is amyloidosis. Colchicine remains the principle therapy, and the aim of
treatment is to prevent acute attacks and the consequences of chronic
inflammation. With the evolution in the concepts about the etiopathogenesis and
genetics of the disease, we have understood that FMF is more complicated than an
ordinary autosomal recessive monogenic disorder. Recently, recommendation sets
have been generated for interpretation of genetic testing and genetic diagnosis
of FMF. Here, we have reviewed the current perspectives in FMF in light of recent
recommendations.