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Clinical Profile of Familial Mediterranean Fever in a Paediatric Population in Eastern Turkey

C Kosan1, N Diri1, A Cayir2

  • 1Ataturk University, Faculty of Medicine, Department of Pediatric Nephrology, Erzurum, Turkey.

The West Indian Medical Journal
|December 20, 2015
PubMed
Abstract

Insights

Familial Mediterranean fever (FMF) mutations, particularly M694V, correlate with disease severity. Environmental factors also significantly influence FMF clinical presentation and outcomes.

Area of Science:

  • Genetics
  • Rheumatology
  • Internal Medicine

Background:

  • Familial Mediterranean fever (FMF) exhibits variable clinical and genetic presentations across populations.
  • Environmental influences may modulate FMF phenotypic expression.
  • Understanding regional FMF characteristics is crucial for accurate diagnosis and management.

Purpose of the Study:

  • To investigate the demographic, clinical, and mutational profiles of FMF patients in a Turkish reference hospital.
  • To correlate specific FMF mutations with clinical manifestations and disease severity.
  • To explore the impact of environmental factors on FMF phenotypes.

Main Methods:

  • A cohort of 197 FMF patients was analyzed.
  • Eleven common FMF mutations were genotyped.
  • Clinical data, including attack and attack-free periods, were systematically recorded.
  • A disease severity score was calculated for each patient.

Main Results:

  • The M694V mutation was the most prevalent (51.7%).
  • Gastric pain and fever were the most common clinical symptoms.
  • Homozygous M694V patients exhibited the highest disease severity scores and elevated sedimentation rates.

Conclusions:

  • FMF attack frequency and severity are linked to specific mutations.
  • Acute phase reactant changes are valuable diagnostic indicators in FMF.
  • Individual FMF clinical courses highlight the role of environmental factors beyond genetic predisposition.
Keywords:
Acute phase reactantschildfamilial Mediterranean fever

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