Familial Mediterranean fever in the Iranian population: MEFV mutations in different ethnic groups

Background and aimsFamilial Mediterranean Fever (FMF) is an ethnically restricted genetic disease, found commonly among Mediterranean population, as well as Armenians, Turks, Arabs and Jews. The disease is caused by mutations in the MEFV gene, encoding the Pyrin protein. The aim of this study was to determine the mutation frequency in the clinically diagnosed FMF patients and the carrier rate among healthy first-degree relatives of patients from Iran.Methods59 patients (<17 years old) with clinical diagnosis of FMF in the absence of colchicine and 82 healthy family members, in three different ethnic groups were screened for the 5 most common MEFV mutations (M694V, M694I, M680I, V726A and E148Q).ResultsThe mean age of patients (27 females: 32 males) was 7.8 ± 3.23. Fever (94.9%) and abdominal pain (77.9%) was the most common clinical finding. Allele frequencies were different among different ethnic groups of Iranian population (p = 0.03). The most frequent mutation was M694V (29.6%) followed by M694I (8%), M680I (15%), V726A (16%) and E148Q (8%): homozygous (18.6%), compound heterozygous (52.5%) and simple heterozygous (16.9%). we could not detect any mutations in 16.95% of our patients. 9 (18%) healthy relatives were detected to have mutations of FMF.ConclusionsM694V was the most common MEFV mutation in various ethnic groups of Iranian patients.