Investigation of Familial Mediterranean Fever of single gene disease for Kastamonu city

Familial Mediterranean Fever (FMF) is an autosomal recessive inherited, most common periodic fever syndrome. This disease is especially prevalent among Jews, Armenians, Turks, and Arabs. FMF causes recurrent attacks of fever and inflammation of the serosal membranes, leading to a marked acute phase response in human immune cells. This study aims to draw attention to this disease by examining clinical features, mutation types, genetic distributions of mutations in patients and their families and future generations. This research is designed to determine the prevalence of these mutations and their genetic relationships to phenotypes and genotypes of patients in Kastamonu. This study is based on the investigation of the most common mutations in the single MEFV gene in Kastamonu. The data collection process was carried out from the records of the patients in Kastamonu state hospital and an online questionnaire filled by 110 patients. Of the FMF patients, 60.9% were female, and 39.1% were male. The age at diagnosis was about 10 years. The most common mutation was M694V with genotypic heterozygote and the second most common mutation was the M694I mutation. It was observed that all the remaining mutations in the study followed these and were approximately 8. The follow-up and treatment of the patients were performed mostly in the big cities and tertiary health institutions such as university hospitals. Early diagnosis of FMF is important to prevent complications such as amyloidosis and nephrotic syndrome. Therefore, health care workers should be careful about the signs and symptoms of FMF. It is necessary to increase the centers in which adequate follow-up and treatment of FMF patients can be easily done. KEYWORDS: FMF, MEFV gene, Pyrin, Kastanomu, M694V, Colchicine. October 2019, Page, 65 Science Code: 923