Chicago Center for Jewish Genetics Disorders - Sephardi Disorders: Familial Mediterranean Fever

Sephardi Disorders

Familial Mediterranean Fever (FMF) is characterized by recurrent painful episodes of fever, peritonitis (abdominal pain), pleuritis (lung inflammation leading to painful breathing), and/or arthritis in the hip, knee, and/or ankle, lasting 2 - 3 days. The most severe complication is amyloidosis, a condition resulting from accumulation of a starch-like glycoprotein (amyloid) in tissues and organs, impairing their function. This can lead to kidney failure and occurs most commonly in untreated Jews of Northern African ethnicity and in patients of Turkish heritage. Severity of symptoms varies between patients and sometimes even among affected members of the same family. Stress and extreme physical exercise have been seen to precipitate attacks. There are no symptoms between episodes.

Disease frequency: Approximately 1 in 200 for Sephardic Jews.

Carrier frequency: 1 in 5 to 1 in 7 in North African Jews, Iraqi Jews, Armenians, and Turks. It is estimated to be as high as 1 in 5 for Ashkenazi Jews, in whom the disease is much milder.

Diagnosis: Diagnosis by a physician knowledgeable about the symptoms of this disorder and by testing of the Familial Mediterranean Fever gene.

Inheritance: Autosomal recessive.

Carrier testing: Available by testing of the FMF gene.

Prenatal diagnosis: Genetic testing of the FMF gene. Available through genetic testing in couples with a previously affected child or to couples found to be at risk by carrier testing.

Technical Information on Familial Mediterranean Fever

Additional Information:
National Organization for Rare Disorders
55 Kenosia Avenue
PO Box 1968
Danbury, CT 06813-1968
(203) 744-0100
(800) 999-6673 (toll-free, voicemail only)
fax: (203) 798-2291
email: orphan@rarediseases.org
http://www.rarediseases.org/

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This page last updated on January 10, 2003.