Familial Mediterranean Fever

Familial Mediterranean Fever (FMF) is an inherited autoinflammatory disorder characterized by recurrent episodes of fever and inflammation affecting the lining of the abdomen, chest, and joints. It is one of the most common hereditary periodic fever syndromes and primarily affects populations from the Mediterranean region, including Armenians, Turks, Arabs, and Sephardic Jews.

Episodes typically begin in childhood and include sudden high fever lasting 1-3 days, severe abdominal pain mimicking appendicitis, chest pain from pleuritis or pericarditis, joint pain and swelling (usually in the ankles or knees), and sometimes a characteristic skin rash on the lower legs. Episodes resolve spontaneously but recur at unpredictable intervals, ranging from weekly to yearly.

The most serious complication of untreated FMF is amyloidosis, where abnormal protein deposits accumulate in organs, particularly the kidneys, leading to progressive kidney failure. This complication can be prevented with proper treatment, primarily daily colchicine therapy, which reduces the frequency and severity of attacks and prevents amyloid deposition.

FMF is caused by mutations in the MEFV gene, which encodes a protein called pyrin involved in regulating inflammation. The condition is inherited in an autosomal recessive pattern, though some individuals with a single mutation may also be affected. Genetic testing can confirm the diagnosis and identify carriers.

NutraHacker examines the following gene related to Familial Mediterranean Fever:

• MEFV

For more information about your own genetic profile as related to Familial Mediterranean Fever, please check out our NutraHacker Carrier Status and Drug Response Report.

Or to get going without any further delay, upload raw DNA data and find out more about your carrier status today.