Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever.

Abstract

To study genotype-phenotype correlation for the 4 most common genotypes found among patients with familial Mediterranean fever (FMF). Thirty patients with the M694V/M694V genotype, 32 with M694V/V726A genotype, 25 with M694V/E 148Q genotype, and 21 with V726A/V726A genotype were assessed for various clinical manifestations of FMF, and overall disease severity. Patients with the M694V/M694V genotype were found to have an earlier age of onset, higher frequency of joint involvement, higher frequency of erysipelas-like erythema, and required higher doses of colchicine to control the disease compared to the other 3 genotypes. The M694V/M694V genotype is associated with more severe disease compared to other common genotypes in patients with FMF.