First Report of Predominant MEFV Mutations in a Persian Children Population with Familial Mediterranean Fever: R202Q, M694V/I

This study evaluated the MEFV gene profile of in 50 children with familial Mediterranean fever (FMF) referred to Ali Asghar and Mofid Children Hospitals (Tehran, Iran) from 2012 to 2014; and it was the first to recruit full-length Sanger sequencing method for a considerable number of referral patients from all regions of Iran. The mean age of the patients was 7.5 years (range 3-23), and 56% of them were male. The children with FMF in this study were from different ethnic background including Azari (47%), Fars (34%), and others (19%); whose parents’ consanguinity was detected in 79% of cases. The body temperature at the time of the disease attack ranged from 38°C to 40°C with a two-week to six-month interval between the attacks, and a 1-10-day duration for each attack. The most prevalent clinical manifestations were fever (100%), abdominal pain (78%), chest pain (26%), joint pain (18.4%), and erythematous rash (2.6%), respectively. None of the cases had amyloidosis at the presentation time; 3 years followup of half of the cases, showed 100% response to colchicine with complete symptom relief and no proteinuria or renal failure. Approximately 32% experienced drug-induced side effects, the most common of which were gastrointestinal symptoms (especially diarrhea) and myopathy, respectively. From total of 50 patients assessed for the MEFV gene mutations, 29 (58%) were homozygous, 8 (16%) were compound heterozygous, and 13 (26%) were heterozygous. Overall, the most common allele variations were R202Q (24%), followed by E148Q (13%), M694V (11%), and M694I (11%), respectively. In conclusion, the dominance of R202Q, E148Q, M694V, and M694I mutations in our cases might be a useful guide for genetic-based approach to FMF in Persian pediatric population.