Relationship Among Clinical, Laboratory Findings, Disease Severity Scores and Genetic Mutations in Patient with Familial Mediterranean Fever

Aim: Familial Mediterranean Fever (FMF) is an auto inflammatory disease characterized by recurrent attacks of fever and inflammation of serosal tissues. In this study, we aimed to investigate the relationship of clinical and laboratory findings with genetic mutations and disease severity scores in children diagnosed with FMF. Methods: Fifty-four patients (27 girls and 27 boys) were enrolled in this study. The subjects were divided into groups according to disease severity score and gene mutations. Regional distributions, clinical and laboratory findings and MEFV mutations were evaluated. Clinical and laboratory findings were compared between the groups. Results: The mean age of the patients was 10.50±3.66 years. The most frequent complaints were fever, abdominal pain and arthralgia. The most frequent mutation was M694V (54.6%), followed by E148Q mutation (11.1%). The disease severity score in patients with M694V homozygous was higher than in other patients. Arthritis, erythema and myalgia were found to be higher in moderate-severe disease group than in mild disease group. Erythrocyte sedimentation rate during attacks were found to be higher in moderate-severe disease group.The patients were mostly from Eastern Anatolia region. Conclusion: Homozygous M694V mutation is associated with a more severe clinical course. The disease may be severe in patients with high sedimentation rate during attacks