Familial Mediterranean Fever
Familial Mediterranean fever is a hereditary illness characterized by repeated attacks of painful inflammation in the abdomen, chest or joints, often accompanied by fever, rash, or headache. Sometimes inflammation may happen in other parts of the body, like the heart, the membrane surrounding the brain and spinal cord, and the testicles. Familial Mediterranean fever primarily affects populations originating in the Mediterranean region, particularly people of Armenian, Arab, Turkish or Jewish ancestry. The disorder affects 1 in 200 to 1,000 people in these populations. It is less common in other populations.
Familial Mediterranean fever is caused by mutation in the MEVV gene, which encodes a protein called pyrin found in white blood cells. The mutated protein causes disruptions in control of the immune system, which leads to misguided or lingering inflammation. Some studies suggest that MEVV gene mutations are also associated with other autoimmune diseases, including rheumatoid arthritis.
The symptoms and their severity differ between individuals, sometimes even among members of the same family. They may include pain in the abdomen, chest, or joints; fever; rash; and headache. The first episode usually occurs in childhood or puberty but can happen later in life. The attacks can last two to three days. The time span between attacks also varies a lot, ranging from days to years. About half of affected persons experience mildly uncomfortable sensations in the area that will later become inflamed, or more general feelings of discomfort before the attack. Without treatment, protein deposits (amyloidosis) may accumulate in the body's organs and tissues, especially in the kidneys, which can lead to kidney failure.
FMF is diagnosed in people with repeated episodes of fever coupled with abdominal pain, chest pain, and/or arthritis of the ankle or knee, usually lasting two to three days. A doctor will take detailed history and order blood and urine tests, including erythrocyte sedimentation rate (ESR), leukocytosis, and serum concentration of fibrinogen, high levels of which are characteristic. Diagnosis can be confirmed by genetic testing.
There is no cure for FMF. An acute episode is treated with nonsteroidal anti-inflammatory drugs (NSAIDs), acetaminophen for pain relief, and an intravenous saline may be administered for hydration. To prevent future attacks and amyloidosis, lifetime treatment with colchicine is required. For those who are affected only mildly can have their urine checked for the presence of protein every six months. People who don’t benefit from colchicine may need treatment with newer drugs that work on the immune system, such as biologic disease modifiers.
With early diagnosis and treatment with colchicine, most people affected by FMF can lead normal productive lives. However, genetic counseling is recommended for newly diagnosed patients and those planning to have children.