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Comparison of early versus late onset familial Mediterranean fever

Nazife Sule Yasar Bilge1, Ismail Sari2, Dilek Solmaz2

  • 1Division of Rheumatology, Department of Internal Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.

International Journal of Rheumatic Diseases
|January 10, 2018
PubMed
Abstract

Insights

Familial Mediterranean fever (FMF) patients with early onset (before age 20) experience more severe symptoms and a higher prevalence of the M694V mutation. This suggests M694V may drive early disease expression in FMF.

Area of Science:

  • Rheumatology
  • Genetics
  • Autoinflammatory Diseases

Background:

  • Familial Mediterranean fever (FMF) is the most common autoinflammatory disease, predominantly affecting young adults.
  • Nearly 90% of FMF patients experience disease flares during early adulthood.
  • Limited data exist comparing early-onset versus late-onset FMF.

Purpose of the Study:

  • To investigate demographic, clinical, and genetic differences between early-onset (≤20 years) and late-onset (>20 years) Familial Mediterranean fever (FMF) patients.
  • To identify potential factors contributing to early disease expression in FMF.

Main Methods:

  • Retrospective analysis of 2246 FMF patients from a national registry in Turkey.
  • Patients were categorized into two groups: early onset (Group 1, ≤20 years) and late onset (Group 2, >20 years).
  • Demographic, clinical, and genetic data (including M694V and E148Q mutations) were compared between the groups.

Main Results:

  • Early onset (Group 1) comprised 72.7% of patients (n=1633).
  • Group 1 experienced longer diagnostic delays and higher rates of fever, peritonitis, pleuritis, erysipelas-like erythema (ELE), arthritis, family history of FMF, and amyloidosis.
  • Homozygous and heterozygous M694V mutations were significantly higher in Group 1, while heterozygous E148Q mutations were lower.

Conclusions:

  • FMF patients with onset before age 20 exhibit more severe clinical manifestations.
  • The M694V mutation is associated with early disease onset in FMF.
  • These findings highlight the importance of genetic factors in FMF disease expression and progression.
Keywords:
M694Vage at onset of diseaseearly onsetfamilial Mediterranean fever

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