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Neth J Med. 2007 Oct;65(9):318-24.

Familial Mediterranean fever: clinical, molecular and management advancements.

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Heller Institute of Medical Research, Sheba Medical Centre, Tel-Hashomer, affiliated with the Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.


Familial Mediterranean fever (FMF), the most frequent of the periodic fever syndromes, is an autosomal recessive disease, predominantly affecting people of Mediterranean descent. The disease is caused by mutations in the MEFV gene, encoding the pyrin protein thought to be associated with the interleukin-1 related inflammation cascade. The condition manifests as attacks of serositis, commonly involving the abdomen, chest or joints, typically accompanied by fever and elevated acute phase reactants. Attacks subside spontaneously within one to three days, without residue. Continuous treatment with colchicine, at a daily dose of 1 to 2 mg, reduces attack frequency, duration and intensity in the majority of patients, and also prevents the development of secondary amyloidosis, the most dreaded complication of the disease. In this communication we review the current state of the art in the diagnosis and care of FMF patients, starting with the presentation of a typical case.

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