What are the 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.
How is Familial Mediterranean fever 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 there treatment available?
While the underlying cause of the disorder has no cure, the symptoms or 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.
What is the life expectancy?
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. 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 family.
Is prenatal diagnosis available?
Testing is available to those with a previously affected child or to couples found to be at risk as carriers.