Familial Mediterranean Fever in patients, 2. or 10. comparison of the effects of carrying exon mefv mutations on clinical findings and disease course

Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent attacks of fever and serosal inflammation. The most feared complication of FMF is amyloidosis, and this serious clinical picture is thought to be related to MEFV mutations. It is stated that having a homozygous exon 10 mutation causes the disease to have a more severe clinical course. In our study, we aimed to compare the effects of the MEFV mutation carried by 253 FMF patients followed in our clinic on clinical findings and disease course. We examined the sociodemographic characteristics, medical history, clinical findings, other FMF-related chronic diseases and treatment characteristics of the patients. MEFV gene mutation was detected in 246 patients, 65 (26.9%) of the patients were homozygous exon 10, 75 (31.0%) were heterozygous exon 10, 44 (18.2%) were compound heterozygous exon 10, 36 (14.6%) were heterozygous. Exon 10 and 2, 22(9%) had heterozygous exon 2 mutation. The most frequently detected mutation was homozygous M694V in 56 (22%) patients. In the group with homozygous exon 10 mutation; earlier age of disease onset (p=0.010) and diagnosis (p=0.020), history of surgery (p=0.001), persistent acute phase reactant elevation (p<0.001), presence of accompanying spondylitis (p=0.005). , presence of amyloidosis (p=0.001), use of more than 1 mg colchicine (p<0.001), and use of non-colchicine treatments such as anti IL-1 treatment (p=0.001) were detected more frequently than the groups carrying exon 2 mutations. Demonstration of MEFV gene mutations is not required for the diagnosis of FMF, but mutation analysis is recommended to assess the course of the disease. Since the disease is inherited in an autosomal recessive manner, it would be beneficial to evaluate the relatives of patients diagnosed with FMF, especially those with high penetrance mutations such as homozygous M694V, for FMF in terms of early diagnosis and treatment. Key Words: Familial Mediterranean fever, MEFV gene, amyloidosis, colchicine