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Familial Mediterranean fever in small children in Turkey

Fatos Yalcinkaya1, Z Birsin Ozcakar, Murat Tanyildiz

  • 1Ankara University School of Medicine, Department of Pediatric Nephrology, Ankara, Turkey. yalcinkaya@tr.net

Clinical and Experimental Rheumatology
|October 5, 2011
PubMed
Abstract

Insights

Familial Mediterranean fever (FMF) patients with early onset show more severe disease, including higher M694V mutation rates. Delayed diagnosis is more common in younger FMF patients, highlighting a critical need for earlier identification.

Area of Science:

  • Genetics
  • Rheumatology
  • Pediatrics

Background:

  • Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease characterized by recurrent fever and serositis.
  • Early diagnosis and treatment are crucial for managing FMF and preventing long-term complications.

Purpose of the Study:

  • To describe demographic, clinical, and genetic features of FMF patients with early disease onset.
  • To compare early-onset FMF patients with late-onset patients.
  • To investigate factors contributing to diagnostic delays in FMF.

Main Methods:

  • Retrospective analysis of 156 recently diagnosed FMF patients.
  • Patients categorized into early onset (≤3 years) and late onset (>3 years) groups.
  • Analysis of diagnostic delay duration and correlation with clinical and genetic factors.

Main Results:

  • Early-onset FMF patients (n=83) had a longer median diagnostic delay (4 years) compared to late-onset patients (n=73, 2 years).
  • The M694V mutation was more prevalent in early-onset patients (81%) versus late-onset (65%).
  • Early-onset group exhibited lower mean attack hemoglobin and higher leukocyte counts, requiring higher colchicine dosages.

Conclusions:

  • Early-onset FMF is associated with more severe disease manifestations.
  • Younger age of onset correlates with increased diagnostic delay in FMF patients.
  • Timely diagnosis is essential, especially for pediatric FMF cases, to mitigate disease severity.

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