What is familial Mediterranean fever?
White blood cells require a protein called pyrin (also known as marenostrin) to help regulate inflammation, which in turn is a site-specific process that fights infection and repairs tissue. When mutations on the MEFV gene reduce the amount of pyrin manufactured, the body loses control of the inflammation process, which is then prolonged or inappropriate to the body’s condition. Familial Mediterranean fever (FMF) is an episodic condition which can also result in amyloidosis, or potentially dangerous buildup of protein in organs and tissues. It occurs most commonly in untreated Jews of Northern African and Iraqi ethnicity and in patients of Turkish heritage.

What are the most common symptoms?
Episodes of fever, rash, difficulty breathing, arthritis and painful inflammation in the abdomen, chest or joints normally begin in childhood or early adolescence. These vary in severity and can last between 12 and 72 hours. Left untreated, amyloidosis can result in kidney failure, and fertility may be reduced. Stress and extreme physical exercise have been shown to precipitate attacks. There are no symptoms between episodes.

Is there treatment available?
While the underlying cause of the disorder has no cure, the symptoms of inflammation can be managed with non-steroidal anti-inflammatory drugs (NSAIDs). Renal failure can be addressed with organ donation. A drug called colchicine, which prevents inflammatory attacks and amyloidosis, may be prescribed as well, though some affected individuals may not be responsive to this treatment. Additional treatments are under investigation; see www.clinicaltrials.gov to learn more.

What is the life expectancy for someone with FMF?
Lifespan is normal in individuals with the disorder, especially with management.

How do I find out if I am a carrier?
Genetic testing of the MEFV gene can identify up to 80% of Iraqi Jewish carriers, 90% of Ashkenazi Jewish carriers and 95% of North African Jewish carriers. Visit Screening and Counseling for more information. The Center encourages prospective parents to meet with a genetic counselor and get tested before conception, in order to make the best health care decisions for their families.

How is FMF diagnosed?
A physician knowledgeable of the symptoms can make a clinical diagnosis of FMF, or a simple blood test can be performed to check for mutations on the MEFV gene.

Is prenatal diagnosis available?
Testing is available to those with a previously affected child or to couples found to be at risk as carriers.

How can I find out more about FMF?

National Organization for Rare Disorders
The National Organization for Rare Disorders (NORD) is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment and cure of rare disorders through programs of education, advocacy, research and service.