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MEFV mutations modify the clinical presentation of Henoch-Schönlein purpura

Z Birsin Ozçakar1, Fatos Yalçinkaya, Nilgün Cakar

  • 1Ankara University School of Medicine, Department of Pediatric Nephrology, Istanbul, Turkey.

The Journal of Rheumatology
|October 10, 2008
PubMed
Abstract

Insights

MEFV gene mutations are linked to Henoch-Schönlein purpura (HSP) in Turkish children, influencing disease presentation. These genetic alterations increase susceptibility and affect clinical and lab findings in HSP patients without familial Mediterranean fever (FMF).

Area of Science:

  • Genetics
  • Pediatrics
  • Rheumatology

Background:

  • Henoch-Schönlein purpura (HSP) is a common vasculitis in children.
  • The MEFV gene is associated with Familial Mediterranean Fever (FMF).
  • The role of MEFV mutations in HSP pathogenesis is not fully understood.

Purpose of the Study:

  • To determine the prevalence of MEFV gene mutations in Turkish children with HSP.
  • To compare clinical and laboratory features of HSP patients with and without MEFV mutations.
  • To investigate MEFV mutations as susceptibility factors for HSP.

Main Methods:

  • Eighty pediatric patients diagnosed with HSP were enrolled.
  • MEFV gene exon 10 and p.E148Q mutation were screened.
  • Patients with a history or development of FMF were excluded.

Main Results:

  • 34% of HSP patients carried MEFV mutations (p.M694V, p.M680I, p.V726A, p.E148Q).
  • HSP patients with MEFV mutations were younger and presented more edema and arthritis.
  • Elevated erythrocyte sedimentation rate and C-reactive protein were more frequent in patients with MEFV mutations.

Conclusions:

  • MEFV gene alterations are significant susceptibility factors for developing HSP.
  • MEFV mutations influence the clinical presentation and laboratory findings in HSP.
  • Genetic screening of MEFV may aid in understanding HSP in certain populations.

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