Особенности клинического течения, диагностики и менеджмента семейной средиземноморской лихорадки у армянских женщин репродуктивного возраста с одной мутацией гена MEFV

Assessment of the clinical features, diagnostic approaches, and management strategies for Familial Mediterranean Fever (FMF) in Armenian women of reproductive age carrying a single MEFV gene mutation. This observational cohort study included 1,766 Armenian women aged 18– 49 with heterozygous MEFV mutations, registered in the Center of Medical Genetics database (1998–2018). FMF diagnosis was confirmed using Tel- Hashomer criteria and colchicine trial therapy. Genotype–phenotype correlations, disease severity, and treatment response were analyzed. FMF was confirmed in 43,4% of participants. M694V and M680I mutations were associated with the highest pathogenicity. The E148Q mutation showed broad phenotypic variability. Rare mutations (P369S, R761H, A744S, etc.) were more commonly linked to atypical presentation and poor colchicine response. Attack frequency, inflammation markers, complications, and treatment efficacy varied depending on the specific mutation. A single MEFV mutation may represent a clinically significant FMF phenotype, requiring personalized diagnostic and therapeutic strategies. Colchicine trial therapy remains a valuable diagnostic and therapeutic tool, particularly in patients with atypical disease presentation.