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Arthritis patterns in familial Mediterranean fever patients and association with M694V mutation

Rami A Jarjour1, Reem Dodaki

  • 1Clinical Genetics Unit, Molecular Biology and Biotechnology Department, Atomic Energy Commission of Syria, POBox 6091, Damascus, Syria. scientific@aec.org.sy

Molecular Biology Reports
|September 17, 2010
PubMed

Insights

Familial Mediterranean fever (FMF) commonly presents with symmetric arthritis, particularly affecting the knees and ankles. Early MEFV gene mutation testing in at-risk populations can prevent severe complications like amyloidosis.

Area of Science:

  • Rheumatology
  • Genetics
  • Internal Medicine

Background:

  • Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder.
  • Recurrent episodes of fever, serositis (peritonitis, pleuritis), and synovitis are characteristic.
  • Arthritis is a frequent and significant clinical manifestation of FMF.

Purpose of the Study:

  • To retrospectively investigate the clinical spectrum of arthritis in FMF patients.
  • To correlate arthritis presentation with MEFV gene mutations.
  • To emphasize early diagnosis and treatment of FMF to prevent complications.

Main Methods:

  • Retrospective analysis of clinical data from 71 FMF patients.
  • Screening for mutations in the familial Mediterranean fever (MEFV) gene.
  • Detailed documentation of affected joints and occurrence of complications.

Main Results:

  • The majority of FMF patients (59%) presented with symmetric two-joint arthritis, differing from previous reports.
  • Most commonly affected joints were knees (63%) and ankles (42%).
  • MEFV gene mutations were identified in 71% of patients, with M694V being the most prevalent (64%).
  • Hip destruction requiring replacement occurred in 2% of patients.
  • Amyloidosis was observed in 2% of the study cohort.

Conclusions:

  • Symmetric polyarticular arthritis is a common presentation of FMF.
  • Genetic testing for MEFV mutations is crucial for diagnosing FMF in arthritis patients from relevant ethnic backgrounds.
  • Early diagnosis and colchicine treatment can prevent severe FMF complications such as amyloidosis and chronic arthritis.

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