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Genetics and new treatment modalities for familial Mediterranean fever

Anupama Bhat1, Stanley M Naguwa, M Eric Gershwin

  • 1Division of Rheumatology, Allergy and Clinical Immunology, University of California at Davis School of Medicine, 451 E. Health Sciences Drive, Suite 6510, Davis, CA 95616, USA.

Annals of the New York Academy of Sciences
|October 4, 2007
PubMed

Insights

Familial Mediterranean fever (FMF) is a genetic autoinflammatory syndrome causing recurrent fevers and inflammation. Understanding the MEFV gene defect and exploring treatments like IL-1 blockade is crucial for managing FMF complications.

Area of Science:

  • Genetics
  • Immunology
  • Rheumatology

Background:

  • Familial Mediterranean fever (FMF) is the most prevalent autoinflammatory syndrome.
  • FMF presents with recurrent episodes of fever, serositis (peritonitis, pleuritis), arthritis, and skin rashes.
  • A significant complication of FMF is amyloidosis, potentially leading to renal failure.

Purpose of the Study:

  • To summarize the clinical characteristics, genetic basis, and treatment options for Familial Mediterranean fever.
  • To highlight the role of the MEFV gene and pyrin protein in FMF pathogenesis.
  • To review current and potential therapeutic strategies for FMF.

Main Methods:

  • Literature review of FMF focusing on clinical presentation, genetics, and treatment.
  • Analysis of the role of the Mediterranean fever (MEFV) gene and pyrin protein.
  • Summary of therapeutic interventions including colchicine and novel agents.

Main Results:

  • FMF is caused by mutations in the MEFV gene, leading to a defective pyrin protein.
  • Pyrin normally regulates neutrophil inflammation, likely through IL-1 downregulation.
  • Defective pyrin in FMF results in uncontrolled inflammation.

Conclusions:

  • FMF is a genetic autoinflammatory disorder with significant clinical manifestations and potential for severe complications like amyloidosis.
  • Targeting pyrin dysfunction and inflammatory pathways, particularly IL-1, offers therapeutic promise.
  • Colchicine remains a primary treatment, with emerging evidence for agents like anakinra, etanercept, and thalidomide.

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