Rare MEFV Mutations in Patients with Henoch Schonlein Purpura from North West of Country

Abstract

Background & Objectives: Coexistence of Familial Mediterranean Fever (FMF) with various systemic vasculitides, such as Henoch Schonlein Purpura (HSP) and other inflammatory disorders has been reported and MEFV gene has been suggested to play a significant role in the pathogenesis of this association. In this study, the rare MEFV mutations in patients with HSP from north west of country and its association with clinical symptoms of disease were evaluated. Material and Methods: Forty unrelated patients were referred by specialists to the Molecular Medical Genetic Center of Tabriz. Clinical diagnosis of HSP was made according to published criteria. The control group consists of 200 ethnically matched persons apparently healthy without any kind of inflammatory diseases. Screening for the 3 mutations; R761H, P396S and R408Q were performed by using amplification refractory mutation system polymerase chain reaction (ARMS-PCR) and polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). X2 test and Fisher's exact test were used to statistical analysis. Results: Of 40 patients studied, 37 (92.5%) showed without mutation, while 3 (7.5%) had MEFV mutation that three of them were compound heterozygous for the P396S/R408Q mutations. There was a statistically significant difference between the patient group and healthy individuals regarding P396S and R408Q mutations (p = 0.0043). Findings suggest that P369S and R408Q mutations always together occurred and not only contribute to the susceptibility to HSP, also associated with clinical symptom of fever. Conclusion: Our results suggest that some MEFV mutations could be a contributory genetic factor to HSP in the north west of the country.