Familial Mediterranean Fever: a review for clinical management.

Abstract

Familial Mediterranean Fever (FMF) is a hereditary autosomal recessive, autoinflammatory disorder characterized by recurrent, self-limiting episodes of short duration (mean 24-72 h) of fever and serositis. FMF is the most frequent periodic febrile syndrome among the autoinflammatory syndromes (AS), a heterogeneous group of recently identified diseases clinically characterized by recurrent febrile attacks, in the absence of autoantibodies and antigen-specific T lymphocytes. In FMF, periodic attacks show inter- and intra-individual variability in terms of frequency and severity. Usually, they are triggered by apparently innocuous stimuli and may be preceded by a prodromal period. The Mediterranean FeVer gene (MEFV) responsible gene maps on chromosome 16 (16p13) encoding the pyrin-marenostrin protein. The precise pathologic mechanism is still to be definitively elucidated; however a new macromolecular complex, called inflammasome, seems to play a major role in the control of inflammation and it might be involved in the pathogenesis of FMF. The most severe long-term complication is type AA amyloidosis, principally affecting the kidney and the cause of chronic renal failure. Two types of risk factors, genetic and non-genetic, have been identified for this complication. Currently, the only effective treatment of Familial Mediterranean Fever is the colchicine. New drugs in a few colchicine resistant patients have been tried, but additional studies on larger series are necessary to draw definitive conclusions.

• Authors: Claudia Fonnesu, Claudia Cerquaglia, Maria Giovinale, Valentina Curigliano, Elena Verrecchia, Giuliana de Socio, Micaela La Regina, Giovanni Gasbarrini, Raffaele Manna
• Journal: Joint bone spine (Joint Bone Spine) Vol. 76 Issue 3 Pg. 227-33 (May 2009) ISSN: 1778-7254 [Electronic] France
• PMID: 19091621 (Publication Type: Journal Article, Review)

Chemical References

• Cytoskeletal Proteins
• Gout Suppressants
• MEFV protein, human
• Pyrin
• Colchicine

Topics

• Amyloidosis (complications)
• Colchicine (therapeutic use)
• Cytoskeletal Proteins (genetics)
• Familial Mediterranean Fever (complications, genetics, rehabilitation)
• Gout Suppressants (therapeutic use)
• Humans
• Kidney Failure, Chronic (complications)
• Pyrin