Особенности клинического течения семейной средиземноморской лихорадки у армянских женщин репродуктивного возраста с классическими мутациями экзона 10 гена MEFV

A total of 742 patients with homozygous and 767 ones with heterozygous MEFV mutations were evaluated. The median age at the time of diagnosis was significantly higher in the homozygous group (29,7 years [IQR: 27–36,3]) compared to the heterozygous group (27,0 years [IQR: 22,2–28,1], p=0,031). Homozygosity for MEFV gene mutations is associated with a more severe phenotype of familial Mediterranean fever (FMF). In a comparative analysis, homozygous patients demonstrated a significantly higher incidence of peritonitis (84,5% vs 63,6%, OR = 1,34; 95% CI: 1,25–1,43; p<0,001) and more frequent abdominal attacks (p<0,001). Disease severity was markedly greater, with 76,7% of homozygous individuals scoring >10 points compared to 7,2% in the nonhomozygous group (p < 0,001). The onset of disease occurred before the age of 10 in 62,1% of cases versus 4,6% (p < 0,001), and a positive family history was more common (80,7% vs 12,5%, p<0,001). The risk of developing AA amyloidosis was significantly increased (1,2% vs 0,4%, OR = 3,45; 95% CI: 1,23–9,65; p=0,048)․ Additionally, colchicine requirements were higher in homozygous patients (1,5 ± 0,3 mg/day vs 1,2 ± 0,4 mg/day, p<0,027). These findings suggest that MEFV homozygosity is a strong predictor of disease severity and therapeutic demand in FMF.