Familial Meditarrenean Disease (FMF) is an autosomal recessive disorder characterized by recurrent attacks of inflammation affecting the serosal membranes.
It manifests with episodes of fever with abdominal pain, arthritis, artralgia, erysipelas like erythema and chest pain. FMF mainly affects populations around the Mediterranean basin namely, Jews, Arabs, Turks, and Armenians. Although prevalent in Turkey, the presence of disease in Eastern-Southern Anatolia has not yet been reported. In this study,it was aimed to investigate the MEFV gene for the first time in patients at Kahramanmaraş, a city in eastern Mediterranean region.
Material and Methods: The families of the patients who were clinically diagnosed with FMF were taken into the research study. We obtained DNA samples from a total of 20 persons from 5 families and screened their DNA for common MEFV mutations: M694V, M680I, V726A, E148Q, and sequenced exon 10 of MEFV for less common mutations.
Results: 13/20 persons had mutations: Six were homozygotes for the M694V mutation, 3 typed heterozygous for the M694V mutation, one patient typed M694V / V726A and 3 patients were heterozygous for the E148Q mutation. Only 4 patients however were treated with colchicine.
Conclusion: These preliminary results suggest a high probability for the presence of FMF patients and/or carriers in the region, and that many patients may be undiagnosed or misdiagnosed in this region. It is therefore very important to determine the frequency and spectrum FMF mutations in the general population as well as to increase the number of FMF genetic analysis centers in Eastern-Southern Anatolia.