Abstract:

Aims: R202Q gene polymorphism is frequently encountered in Familial Mediterranean Fever (FMF) patients. We aimed to investigate the relationship between FMF clinical findings and MEFV gene mutations/polymorphisms with a particular attention to R202Q. Methods: Total of 158 patients with FMF were included in the study that was conducted in a tertiary rheumatology outpatient clinic. The demographic and clinical features, as well as MEFV gene mutations, were recorded in a “Patient Assessment Form”. The severity of the disease was evaluated with the FMF-severity score-2. The associations between clinical features and genetic alterations were calculated with the Pearson chi-square test. Results: The mean age of patients was 24.3±5.1 years, the mean delay in diagnosis was 5.6±6.3 years, and 155 of the patients (98.1%) were male. The percentage of patients stating that they regularly used colchicine was 86.1%, and the mean dose was 1.4±0.3 mg/day. The most frequent mutation was M694V (76.6%), and R202Q, M680I and E148Q were found in a descending order (60.8%, 19.0% and 13.9%, respectively). M694V/R202Q was the most prevalent compound heterozygosis and found in 16 patients (10.1%). This mutation (M694V/R202Q) was associated with fewer frequencies of myalgia and peritonitis, and with good response to colchicine. Conclusions: The presence of R202Q polymorphism is associated with FMF, and should be considered in the routine genetic analysis of the disease. In our patients, its co-existence with M694V seems to be associated with good response to colchicine, and to alleviate the severity of the disease expression of M694V, which is known to be associated with severe course.

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