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Familial Mediterranean fever and seronegative arthritis

Nurullah Akkoc1, Ahmet Gul

  • 1Division of Rheumatology and Immunology, Department of Internal Medicine, Dokuz Eylul University, Faculty of Medicine, Balcova, 35340 Izmir, Turkey. nurullah.akkoc@gmail.com

Current Rheumatology Reports
|June 23, 2011
PubMed

Insights

Familial Mediterranean fever (FMF) shares arthritis similarities with spondyloarthritis. The MEFV gene variant M694V may be a geographic risk factor for ankylosing spondylitis, impacting a shared inflammatory pathway.

Area of Science:

  • Rheumatology
  • Genetics
  • Immunology

Background:

  • Familial Mediterranean fever (FMF) presents with polyserositis and common articular involvement.
  • Arthritis in FMF mimics spondyloarthritis, with studies suggesting higher spondyloarthritis prevalence in FMF patients.
  • FMF is linked to MEFV gene mutations affecting interleukin-1β regulation.

Purpose of the Study:

  • To investigate the association between the MEFV gene variant M694V and ankylosing spondylitis (AS).
  • To explore the role of the interleukin-1 cytokine pathway in AS pathogenesis.
  • To identify potential geographic region-specific risk factors for AS.

Main Methods:

  • Review of case series on FMF and spondyloarthritis prevalence.
  • Analysis of genetic studies on MEFV variants in AS patients.
  • Examination of evidence linking interleukin-1 pathway to AS.

Main Results:

  • Increased frequency of the MEFV M694V variant found in AS patients without a history of FMF.
  • The interleukin-1 cytokine pathway is implicated in AS pathogenesis.
  • M694V association with AS suggests a geographic risk factor.

Conclusions:

  • The MEFV M694V variant may represent a geographic risk factor for ankylosing spondylitis.
  • This association highlights a common inflammatory pathway potentially involved in both FMF and AS.
  • Further research is warranted to elucidate the precise role of M694V in AS pathogenesis.

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