PMID: 11915558Mar 28, 2002Paper

Familial Mediterranean fever

La Revue du praticien
Daniel Cattan, Michel Dervichian

Abstract

Familial mediterranean fever is a hereditary inflammatory disease, with autosomal recessive transmission, due to mutations in the MEFV gene. The MEFV gene, located on the short arm of chromosome 16, codes an anti-inflammatory protein, marenostrine or pyrin. The disease is characterised by paroxysmal bouts of fever with acute and painful serositis. Appearance of renal amyloidosis indicates severe prognosis. The disease appeared several thousands of years ago in an ancestor common to Sephardic Jews, Turks, Armenians and Arabs. The full clinical description, including renal complications and familial forms, was made by two French investigators and dates from the 1950s. That this description is relatively recent is due to the scarcity of medical treatment and the poor living conditions in the regions concerned, which also explains the occurrence of endemic diseases (in particular tuberculosis), the frequency of acute rheumatic fever, malaria and pyogenic infections. Prophylactic treatment by colchicine, suggested by Turkish authors and one American author, has been demonstrated to avoid not only inflammatory episodes but also the development of amyloidosis.

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