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Familial Mediterranean fever in Syrian children: phenotype-genotype correlation

Rami A Jarjour1, Sumaya Al-Berrawi

  • 1Clinical Genetics Unit, Molecular Biology and Biotechnology Department, Atomic Energy Commission of Syria (AECS), P.O.Box 6091, Damascus, Syria, ascientific@aec.org.sy.

Rheumatology International
|August 25, 2014
PubMed

Insights

Familial Mediterranean fever (FMF) in Syrian children is linked to the M694V mutation. This mutation is associated with more severe FMF, earlier onset, and increased arthritis compared to other FMF patients.

Area of Science:

  • Genetics
  • Pediatrics
  • Rheumatology

Background:

  • Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease.
  • FMF is characterized by recurrent episodes affecting serosal membranes.

Purpose of the Study:

  • To investigate the prevalence of FMF mutations in Syrian children.
  • To determine the association between the M694V mutation and clinical manifestations of FMF in this population.

Main Methods:

  • Mutation screening for 12 common mutations in the Mediterranean Fever gene (MEFV).
  • Analysis of clinical features, including abdominal pain, fever, and arthritis, in 103 unrelated Syrian children.
  • Comparison of disease characteristics between patients with and without the M694V mutation.

Main Results:

  • Abdominal pain (88.3%) and fever (79.6%) were the most common symptoms.
  • The M694V mutation was the most frequently identified.
  • M694V carriers exhibited a more severe FMF course, earlier age of onset, and higher incidence of arthritis.

Conclusions:

  • The M694V mutation is a significant genetic factor associated with severe FMF in Syrian children.
  • Genetic screening for M694V is crucial for understanding disease severity and prognosis in FMF patients.
  • This study highlights the importance of genotype-phenotype correlations in managing FMF.

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