The Distribution of MEFV Mutations in Iranian FMF Patients: Multicenter Study

Background/aim: The distribution of Mediterranean fever (MEFV) gene mutations in Iranian familial Mediterranean fever (FMF) patients varies according to geographic area of Iranian. There is a need for highly representative data for Iranian FMF patients. The aim of my study was to investigate the distribution of the common MEFV mutations in Iranian FMF patients in a nationwide, multicenter study. (Tehran, Mashhad, Kermanshah, Tabriz) that were visited by me for 20 years. Materials and Methods: Data of the 324 FMF patients, from 4 pediatric clinics located in different parts of the country, were evaluated retrospectively. The following mutations have been tested in all patients: M694V, M680I, M694I, V726A, and E148Q. Results: There were 324 FMF patients with available genetic testing. According to the genotyping, hetrozygous E148Q, present in 254 patients (78%), was the most common mutation .25 of patients had no detectable mutations. Allele frequencies of common mutations were: E148Q (n = 254, 78%), M694V (n= 23, 7%), V726A (n = 13, 4%), M694I (n =7 ,2%), and M680I (n = 2, <1%).298 of them were Males&26 Females. The ages of them between 1.5 year to 48 year. The common symptoms were(Abdominal pain, Recurrent vomiting, Artheralgia, Headche, Skin rash, Chest pain, Diarreha) and the common sign was periodic fever. Conclusion: In this large-scale multicenter study, we provided information about the frequencies of common MEFV gene mutations obtained from children to adults Iranian FMF patients. The maximal of the patients were carrying at least one E148Q mutations in their alleles.