Characteristics of Patients with Familial Mediterranean Fever in Erzincan Province: A Cross Sectional Study From a Single Center

INTRODUCTION: Familial Mediterranean fever (FMF) is the most common monogenic periodic fever syndrome, characterized by recurrent attacks of fever, peritonitis and pleuritis. The disease usually occurs in the first two decades of life. It is frequently seen in the Central-North Anatolian Region of the country. In this study, it was aimed to investigate the first complaints, age at diagnosis, delay in diagnosis, most common clinical findings and MEFV gene of patients with FMF living in Erzincan province.
METHODS: In this cross-sectional study, patients diagnosed with FMF who applied to rheumatology and physical medicine and rehabilitation outpatient clinics between January 2023 and May 2023 were included. Demographic data and genetical features were collected from patient interviews and medical records.
RESULTS: The study was composed of 142 (64 female, 78 male) patients with the diagnosis of FMF. Mean age of the patients were 31.60 ±9.91 years. In the patient group, the mean age of first attack was 16.39 ±7.55, delay in diagnosis was 3,57 ±2.35. Genetic analysis revealed that 24% of the patients were homozygous for M694V, followed by heterozygous M694V mutation (12.6%). The most common clinical symptoms in patients were peritonitis (86.6%). All patients were using colcicine.
DISCUSSION AND CONCLUSION: It was observed that FMF patients in Erzincan were similar to the results of studies in Turkey in terms of mutation type and clinical complaints. Delay in diagnosis was found to be shorter compared to other studies. This study is important because it is the first comprehensive study in Erzincan province.