Familial Mediterranean Fever

Familial Mediterranean Fever (FMF) is an inherited condition that causes repeated attacks of painful inflammation in the abdomen, chest or joints. Swelling may happen in other parts of the body - like the heart, the membrane surrounding the brain and spinal cord, and the testicles. FMF occurs in people of Mediterranean origin, including those of Armenian, Arab, Turkish or Jewish ancestry. FMF affects as many as 1 in 200 people in these populations.

FMF is caused by mutation in the MEFV gene, which encodes a protein called pyrin found in white blood cells. The mutated protein disrupts the immune system and causes inflammation. Researchers think that MEFV gene mutations may be a factor in other autoimmune diseases, including rheumatoid arthritis. Genetic counseling is recommended for people newly diagnosed and those planning to have children.

The first episode of FMF usually occurs in childhood or puberty. It lasts two to three days. The time between bouts also varies, ranging from days to years. About half of those with the condition experience mild discomfort before the attack begins.

Symptoms and their severity differ between individuals, sometimes even among family members, and may include:

• Abdominal pain.
• Pain in the chest.
• Swollen, painful joints.
• Fever.
• Rash, often on the legs.
• Headache.

Without treatment, protein deposits (called amyloids) may accumulate in the body's organs and tissues. Amyloidosis especially affects the kidneys and can lead to kidney failure.

FMF is diagnosed through tests and procedures, including:

• Physical exam.
• Review of family history.
• Blood tests.
• Urine tests.

The diagnosis can be confirmed by genetic testing.
 

There is no cure for FMF. People who have mild symptoms may not need treatment but should have their urine checked for protein every six months. Symptoms can be controlled and prevented with colchicine, a daily oral medication. People who don’t benefit from colchicine may need treatment with drugs that work on the immune system, such as biologic agents.

With early diagnosis and treatment, most people with FMF can lead normal lives. A healthy lifestyle that includes a nutritious diet, exercise, weight control, and stress relief can help manage pain and maintain overall heath.