Abstract:

Objective: We aimed to evaluate MEFV mutation frequency and the effects of MEFV mutations on the clinical course including renal involvement in children with Henoch-Schonlein Purpura (HSP). Methods: Children with a diagnosis of HSP who were evaluated for the presence of MEFV mutations were enrolled in this study. Patients were primarily assigned into two groups based on the presence of MEFV mutations as Group 1 including patients without mutations and Group 2 including patients with mutations in at least one allele (heterozygous, homozygous, or compound heterozygous). We also investigated specifically the effects of M694V mutation on the course of HSP by comparing patients with M694V mutation in at least one allele with patients not carrying M694V mutation. Results: Forty-seven patients (23 female) were enrolled. MEFV mutation rate (53%) was 3.5 times the rate in general population. M694V was the most common mutation (48%). Patients with MEFV mutations, especially those with M694V mutation, had lower incidence of preceding infection, but increased inflammatory markers, scalp edema and relapse rate. Renal involvement and long-term prognosis were not affected by the presence of MEFV mutations. Conclusions: MEFV mutations cause susceptibility to develop HSP and are associated with increased inflammation and altered clinical course. However, renal involvement and long-term prognosis were not affected by the presence of MEFV mutations.