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J Rheumatol. 2008 Dec;35(12):2427-9. Epub 2008 Oct 1.

MEFV mutations modify the clinical presentation of Henoch-Schönlein purpura.

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Ankara University School of Medicine, Department of Pediatric Nephrology, Istanbul, Turkey.



To investigate the prevalence of MEFV gene mutations in Turkish patients with Henoch-Schönlein purpura (HSP) but with no symptoms of familial Mediterranean fever (FMF). In addition, we assessed the clinical and laboratory characteristics of HSP patients with and without MEFV mutations.


Eighty pediatric patients with HSP (44 boys and 36 girls) were enrolled. Blood for mutation analysis was obtained either at the time of the diagnosis of HSP or during followup visits in previously diagnosed patients. No patient had the diagnosis of FMF in their history and in the followup period. Exon 10 of the MEFV gene was screened, together with p.E148Q mutation analysis.


Twenty-seven (34%) patients were found to be heterozygous for one of the screened MEFV mutations; p.M694V in 16, p.M680I in 5, p.V726A in 3, and p.E148Q in 3 patients. Patients with MEFV mutations were younger than those without mutations and they had edema and arthritis more frequently. Also, the frequencies of elevated erythrocyte sedimentation rate and C-reactive protein values were found to be significantly higher in patients who had MEFV mutations.


Alterations in the MEFV gene are important susceptibility factors for the development of HSP and also affect the clinical presentation of it.

[Indexed for MEDLINE]

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