Impact of MEFV gene variants on clinical presentation in Familial Mediterranean Fever: A focus on Exon 2 mutations

AIM: Our study aimed to evaluate the clinical presentation, demographics and colchicine response in Familial Mediterranean Fever (FMF) patients with Exon 2 mutations (E148Q, R202Q) compared to those with Exon 10 mutations. METHODS: A single-center retrospective study was conducted on 98 adult FMF patients diagnosed between 2009 and 2019. Medical records of 41 patients with Exon 2 and 57 patients with Exon 10 mutations were reviewed. In Exon 2 group, 3 patients were homozygous for E148Q, 33 were heterozygous (21 with E148Q, 12 with R202Q), and 5 were compound heterozygous for E148Q and R202Q. In the Exon 10 group, 20 patients were homozygous for M694V, 18 were heterozygous, and 19 had compound heterozygous mutations involving M694V and other Exon 10 variants (V726A, M680I, A744S, R761H). Data on demographics, symptom onset, clinical manifestations, family history, colchicine response were analyzed. RESULTS: Patients with Exon 2 mutations were older at symptom onset (p