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Clinical features of familial Mediterranean fever: an Italian overview

R Manna1, C Cerquaglia, V Curigliano

  • 1Department of Internal Medicine, Catholic University of Sacred Heart, Rome, Italy. rmanna@rm.unicatt.it

European Review for Medical and Pharmacological Sciences
|June 18, 2009
PubMed

Insights

Familial Mediterranean Fever (FMF) is an autoinflammatory disorder causing recurrent fever and inflammation. Early diagnosis and colchicine treatment are crucial to prevent complications like AA amyloidosis.

Area of Science:

  • Genetics
  • Immunology
  • Rheumatology

Background:

  • Familial Mediterranean Fever (FMF) is the most common autoinflammatory syndrome.
  • It is an autosomal recessive disorder characterized by recurrent fever and serositis.
  • FMF is linked to mutations in the MEFV gene, encoding the Pyrine/Marenostrin protein.

Purpose of the Study:

  • To summarize the current understanding of Familial Mediterranean Fever (FMF).
  • To highlight the pathogenesis, clinical manifestations, and complications of FMF.
  • To discuss current and potential future treatments for FMF.

Main Methods:

  • Review of existing literature on FMF.
  • Analysis of the genetic basis and molecular mechanisms of FMF.
  • Discussion of clinical presentation, diagnosis, and management strategies.

Main Results:

  • FMF presents with variable episodes of fever, serositis, and inflammation.
  • The inflammasome complex is implicated in FMF pathogenesis.
  • AA amyloidosis leading to renal failure is a severe complication.
  • Colchicine remains the primary treatment, with new drugs emerging for resistant cases.

Conclusions:

  • FMF is a significant autoinflammatory disorder requiring prompt management.
  • Understanding the role of the inflammasome is key to FMF pathogenesis.
  • Effective treatment, primarily colchicine, is vital for preventing long-term complications such as amyloidosis.

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