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

Objective. To study genotype-phenotype correlation for the 4 most common ge notypes found among patients with familial Mediterranean fever (FMF). Methods. Thirty patients with the M694V/M694V genotype, 32 with M694V/V726A genotype, 25 with M694V/E148Q genotype, and 21 with V726A/V726A genotype w ere assessed for various clinical manifestations of FMF, and overall diseas e severity. Results. Patients with the M694V/M694V genotype were found to have an earli er age of onset, higher frequency of joint involvement, higher frequency of erysipelas-like erythema, and required higher doses of colchicine to contr ol the disease compared to the other 3 genotypes. Conclusion. The M694V/M694V genotype is associated with more severe disease compared to other common genotypes in patients with FMF.