Prevalence and significance of the MEFV gene mutations in childhood Henoch–Schönlein purpura without FMF symptoms

Abstract

Familial Mediterranean fever (FMF) has been reported more frequently in patients presenting with Henoch-Schönlein purpura (HSP) than in the general population. But, there is no clear knowledge about MEFV mutations in patients with HSP. We investigated the prevalence of MEFV mutations in children with HSP and without FMF whether these mutations have any effect on the disease course or complications. A total of 76 children with HSP who had no typical symptoms of FMF were screened for the mutations in exon 2 and exon 10 of the MEFV gene. Eleven of 76 patients (14.4 %) were heterozygous (E148Q in 5, M694V in 4, M680I in 1, E148V in 1), 5 (6.6 %) were homozygous (M694V/M694V in 4, V726A/V726A in 1), and 2 (2.6 %) were compound heterozygous (E148Q/M694V mutations in 1 and L110P/E148Q mutations in 1). Altogether, 7 patients carried 2 mutated MEFV alleles (9.2 %), which was higher than that observed in the general Turkish population (1 %). No significant differences in joint, gastrointestinal, renal involvement, or subcutaneous edema, and also acute phase reactants including leukocyte count, erythrocyte sedimentation rate, and serum C-reactive protein concentration were found between the groups. The prevalence of the two allele-MEFV mutations in patients with HSP was found higher than that of the general population. However, it seems that MEFV gene mutations may not have any effect on the clinical presentation of HSP.

Prevalence of the MEFV gene mutations and their clinical correlations in Azeri Turkish patients with childhood Henoch-Schonlein purpura: The role of M680I and E148Q mutations

“…This finding probably indicates that M680I mutation may be a predisposing factor to HSP. Similar to our results, Kolnik et al 22 showed that the prevalence of MEFV mutations in patients with HSP was not more than general population, but study of Dogan et al 18 showed that the prevalence of MEFV mutations was 9 fold more in HSP patients than general population. These different results may be attributed to genetic variations in different geographical areas.…”

“…22 In our study, although leukocytosis, elevated ESR, positive CRP and high platelet count were more frequent in patients carrying MEFV mutations, but this difference was not statistically significant. In the Kolnik et al 22 and Dogan et al studies 18 similar results were reported. However in the study of Ozcakar et al 23 ESR and CRP levels were significantly higher in the group with mutations.…”

“…Also, Dogan et al 18 did not observe a significant relationship between HSP patients with and without MEFV mutations in terms of age, sex, joint, GI and renal involvement. Another study performed by He et al showed a statistically significant association between E148Q mutation and joint involvement.…”

“…[12][13][14] HSP has been seen in 7.0% of patients suffering from FMF. 15 Review of literature shows that patients with HSP in Turkey, [16][17][18] Iran 19 and China 20 carry higher mutations of MEFV. A recent study in Iran indicates that FMF gene (MEFV) mutations are frequent in Azeri Turkish population but with some differences in the frequency of individual mutations.…”

MEFV mutations in Iranian Azari Turkish patients with Henoch–Schönlein purpura

“…The MEFV gene is located in 16p13.3 and has 10 exons encoding a protein (pyrin/marenostrin) with multiple domains. To date, more than 80 different mutations in the MEFV gene have been recognized and several mutations in it are associated with the severity of diseases (5). Pyrin could only be found in granulocytes and is involved in inflammation and cell death regulation (5,6).…”