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Rheumatology 2001; 40: 606-609
© 2001 British Society for Rheumatology

Editorials

Genetic counselling in familial Mediterranean fever: has the time come?

E. Ben-Chetrit and M. Sagi1,

Departments of Medicine and
1 Human Genetics, Hadassah Hebrew University Hospital, Jerusalem 91120, Israel

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of fever and peritonitis, pleuritis, arthritis or an erysipelas-like skin disorder [1, 2]. The disease affects mainly non-Ashkenazi Jews, Armenians, Turks and Arabs. The disease may present at any age, more than 80% of patients being symptomatic by the age of 20 yr. One of the major complications of FMF is amyloidosis of the kidneys, which causes a nephrotic syndrome leading to end-stage renal disease. Some of the patients who survive dialysis or renal transplantation may develop heart failure and fatal arrhythmias due to cardiac amyloidosis [3].

Colchicine is the drug of choice for FMF. It prevents the acute attacks as well as the development of amyloidosis [2]. More than 90% of FMF patients will respond to this medication, which either abolishes the attacks completely or significantly decreases their frequency.

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