PW01-032 – FMF-like state: genetic factors unrelated to MEFV

Introduction FMF is considered an autosomal recessive autoinflammatory syndrome caused by single gene (MEFV) mutations. Recently, it has been known that also heterozygous mutation carriers can suffer from a mild or incomplete form of FMF, named FMF-like disease. Among Armenians, who have relatively high carrier rate of MEFV mutations, single mutation has been detected in about 1/5 of symptomatic cases. Thus, one cannot exclude the influence of other modifier genes and/or environmental factors which can contribute to the variable penetrance and to the phenotypic variability of FMF-like disease.