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Familial Mediterranean fever-associated diseases in children

Z B Özçakar1, N Çakar1, N Uncu2

  • 1From the Department of Pediatrics, Division of Pediatric Rheumatology, Ankara University School of Medicine, Ankara, Turkey.

QJM : Monthly Journal of the Association of Physicians
|January 2, 2017
PubMed
Abstract

Insights

Familial Mediterranean fever (FMF) in children is linked to increased risks of inflammatory conditions like vasculitis and arthritis. The M694V mutation is a key factor, highlighting the need for awareness in FMF-prevalent regions.

Area of Science:

  • Pediatric Rheumatology
  • Genetics
  • Inflammatory Diseases

Background:

  • Familial Mediterranean fever (FMF) is an inherited autoinflammatory disorder.
  • Mutations in the MEFV gene, encoding pyrin, cause FMF and are linked to prolonged inflammation.
  • Previous studies have not systematically evaluated FMF-associated diseases in pediatric populations.

Purpose of the Study:

  • To determine the frequency and types of diseases associated with FMF in children.
  • To identify potential genetic predispositions and risk factors for these comorbidities.

Main Methods:

  • Retrospective analysis of FMF patient records from two reference hospitals over two years.
  • Inclusion criteria focused on pediatric FMF patients with diagnosed concomitant diseases.

Main Results:

  • 12.8% of 600 FMF patients had associated diseases.
  • Common comorbidities included vasculitis (5%), juvenile idiopathic arthritis (3.5%), and inflammatory bowel disease (1.16%).
  • The M694V mutation was prevalent (81% of patients), particularly the M694V/M694V genotype (44%), and associated with disease development, often without colchicine treatment.

Conclusions:

  • Children with FMF exhibit a higher incidence of inflammatory diseases such as vasculitis, chronic arthritis, and IBD.
  • The M694V MEFV gene mutation is identified as a significant susceptibility factor for these associated conditions.
  • Clinicians in FMF-endemic areas should maintain high vigilance for these comorbidities in pediatric FMF patients.

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