FMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M۶۹۴V/R۷۶۱H mutation and amyloidosis

Objective(s):Familial Mediterranean fever (FMF), an inherited autosomal recessive disorder, is frequently present among individuals of Mediterranean origin. Differences in the clinical manifestations of FMF between different ethnic groups have been documented. The aim of the present study was to determine the most common characteristics of FMF and the relationship between clinical findings and the most common mutant alleles of the MEFV gene in an Iranian Azeri Turk population. Materials and Methods:We analyzed clinical and genetic data from ۴۱۵ patients identified as having FMF clinical symptoms and who were referred to the Molecular Genetics Laboratory of Tabriz/Iran over the last ۳ years. The mutation type and clinical characteristics were determined for each patient. Results:The following primary clinical characteristics of the patients were observed: peritonitis was observed in ۳۷۸ (۹۳.۸%), high-grade fever in ۳۵۱ (۸۶.۸۸%), arthritis in ۲۱۵ (۵۴.۵۷%), pleuritis in ۲۰۷ (۵۳.۴۹%), myalgia in ۱۵۳ (۴۱.۶۹%), AA amyloidosis in ۱۴۹ (۴۰.۱۶%), and erysipelas-like erythema in ۵۴ (۱۴.۹۶%) subjects. A positive response to colchicines treatment was noted in ۳۷۴ (۹۵.۱%) patients including ۳۰۳ patients with two mutated alleles and ۷۱ patients with one identified mutation. Conclusion:In contrast to previous studies, there was no significant association between M۶۹۴V mutation and development of amyloidosis. The M۶۸۰I/M۶۸۰I, M۶۸۰I, M۶۹۴I, and M۶۹۴V/R۷۶۱H genotypes were found to be associated with the development of amyloidosis. These results indicate that physicians need to pay careful attention to patients with asymptomatic or mildly symptomatic FMF with these genotypes.

کلیدواژه ها:

Amyloidosis ، Familial Mediterranean fever ، Iran ، M۶۹۴V/R۷۶۱H