Genetic and Clinical Manifestations of Familial Mediterranean Fever in Children from the Central North of Iran

Background: Familial Mediterranean fever (FMF) is one of the most common monogenic autoinflammatory diseases in the Middle East. The disease is characterized by recurrent attacks of fever and serositis, and the clinical presentation varies across different ages, ethnicities, and genotypes. Objectives: In this study, we determined the types of gene mutations in patients with FMF and their relationship with clinical symptoms in the Central North of Iran. Methods: This was an analytical cross-sectional study conducted on all patients with FMF who were referred to 17 Shahrivar Hospital in Rasht. Demographic information, clinical data, and genetic test results were collected. Results: The mean age of patients at the onset of symptoms was 3.57 ± 2.79 years. In this study, 62.5% of patients were male and 37.5% were female. The most common clinical symptoms were fever, abdominal pain, nausea, vomiting, chest pain, joint pain, headache, and diarrhea, respectively. In genetic studies, 12.50% of patients were homozygous, 47.50% were compound heterozygous, 20% were heterozygous, 2.50% had complex genotypes, and 17.50% had no mutation. The most common gene mutations were R761H, M694V, E148Q, and M680I alleles, respectively. Conclusions: In our study, we found different clinical and genetic patterns in patients with Familial Mediterranean fever. These results highlight the importance of conducting further studies in different regions to help clinicians manage their patients accurately.