Common MEFV mutations (M694V, V726A, M680I, M694I, and E148Q ) in patients with Behcet\'s disease in Ardabil

Background and objectives: Behcet's Disease (BD) is a rare severe recurrent inflammatory disorder affecting several body organs. Since Familial Mediterranean Fever (FMF) and BD affect almost a specific population, both diseases can mimic the other clinically, and these two diseases sometimes occur in the same family and the same patient, also due to the high prevalence of BD in Iran and performing a small number of studies about MEFV gene mutations in patients with BD, this study aimed to determine the frequency of MEFV gene mutations in Ardabil patients with BD. Material and Methods: Fifty patients with BD were diagnosed according to the International Study Group criteria for BD (for oral pests, genital pests, and ocular lesions, 2 points each, skin symptoms, vascular symptoms, positive pathogenesis test, and neurological symptoms, 1 point each). A score of 4 or higher indicated BD. All patients were analyzed for five common MEFV mutations (M694V, V726A, M680I, M694I, and E148Q) using amplification refractory mutation system and Polymerase Chain Reaction (PCR) restriction-digestion testing methods. A cohort of 224 healthy people who had been previously genotyped regarding the five common MEFV mutations served as the control group. Results: The mean age of patients was 38.68±11 years. Most BD patients (56%) and 50.4% of the control group were women. Of all patients, 66% (33) mentioned that their parents had no family relationship. Among 50 patients with BD, 12 (24%) had mutations in the MEFV gene, of which seven patients (58.3%) had E148Q mutation. Among healthy individuals, 57 patients (25.4%) had mutations, of which 39 (68.4%) had E148Q mutation. The difference between the two groups was not significant. Conclusion: Results showed that most patients with BD had mutations in the MEFV gene and the most common case was E148Q mutation which was similar to the healthy population in terms of BD agent.