Impact of MEFV Mutations on Inflammatory Activity and Long-Term Relapse in Pediatric IgA Vasculitis

Background IgA vasculitis (IgAV), formerly Henoch–Schönlein purpura, is the most common systemic vasculitis of childhood. MEFV mutations have been linked to enhanced inflammatory responses and vasculitis, although their impact on long-term outcomes remains unclear. Objectives To determine the prevalence of MEFV mutations in children with IgAV and to evaluate their associations with clinical features, inflammatory markers, and long-term outcomes, including relapse. Methods In this retrospective cohort, 62 children diagnosed with IgAV were screened for eight common MEFV mutations and classified according to mutation status. Demographic, clinical, laboratory, and outcome variables were compared between groups. Long-term follow-up data were used to assess relapse and renal outcomes. Results MEFV mutations were detected in 24/62 patients (38.7%). Mutation-positive patients had higher ESR and CRP levels and lower serum albumin levels (p < 0.05 for all). Long-term follow-up data were available in 57/62 patients. Relapse occurred more frequently in mutation-positive than mutation-negative patients (27.3% vs. 5.7%; p = 0.028). In multivariate analysis, MEFV mutation positivity and elevated ESR were independent predictors of relapse. Conclusions MEFV mutations were common in children with IgAV and were associated with higher inflammatory activity and increased relapse risk, despite similar systemic involvement at presentation. In settings with a high prevalence of MEFV variants, mutation status may contribute to clinical risk stratification. Larger studies are needed to clarify its prognostic value.