小児期における家族性地中海熱に関連する血管炎の臨床的意義：小児期における比較研究

Familial Mediterranean Fever (FMF) is characterized by recurrent fever and serositis. Although not classical in FMF, vasculitis is increasingly reported, suggesting shared pathogenic mechanisms.This study aimed to evaluate clinical features and treatment responses in pediatric FMF patients with concomitant vasculitis.

The records of 1,598 pediatric FMF patients followed at a tertiary pediatric rheumatology center were reviewed retrospectively. After exclusions, 1,481 patients were included: 1,434 without vasculitis (Group 1) and 47 with vasculitis (Group 2). Demographic, clinical, genetic, and treatment-related data were compared between the groups, and vasculitis subtypes were characterized in detail.

Vasculitis was found in 3.2% of patients, most commonly IgA vasculitis and Behçet's disease Group 2 had higher attack rates, more chest pain/myalgia, and more non-exon 10 heterozygous MEFV mutations. Colchicine response and biologic therapy requirement did not differ significantly between groups.There was no statistically significant difference between groups in colchicine response (97.3% vs. 74.5%) or biologic therapy requirement (2.7% vs. 6.4%).

The coexistence of vasculitis in FMF likely reflects shared inflammatory mechanisms rather than coincidence. Vasculitis occurred even in patients with milder MEFV genotypes, suggesting an enhanced proinflammatory milieu. Early recognition of vasculitis in FMF may influence therapeutic strategies and improve outcomes.