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Familial Mediterranean fever is an inherited disease that affects people from Mediterranean regions, caused by mutations in the MEFV gene. Lack of the protein pyrin leads to inflammation that causes pain in the abdominal, chest, and joint areas, and fever attacks. Treatment includes nonsteroidal anti-inflammatory drugs, and a genetic test may be given.
Familial Mediterranean fever is an inherited disease that affects people from the Mediterranean regions. This disorder tends to affect Greeks, Armenians, Sephardi Jews, Turks, and people of Arab descent. Familial bouts of Mediterranean fever are thought to be caused by mutations in the MEFV gene.
The MEFV gene is responsible for making the protein pyrin, which is an essential protein. Pyrine helps regulate inflammation within the body. When there is a lack of this protein, the body cannot fight inflammation effectively. Therefore, those suffering from Mediterranean fever lack the protein pyrine. In some cases, fever attacks lead to hospitalization.
Those currently affected by this disorder also have a fifty to seventy percent chance of passing the disorder on to their offspring. The disease itself includes pain within the abdominal, chest and joint areas. Occasionally, some patients have reported scrotal pain, myalgia, erysipeloid, and fever, excluding any other symptoms. Most people who have familial Mediterranean fever will also experience fever and rash-like symptoms during times of severe pain.
Many people will first encounter pain from familial Mediterranean fever during their teenage years, although some people may experience pain from this disorder later in life. Generally, attacks last from 12 to 72 hours and the intensity of an attack will vary depending on the person.
Treatment is needed to prevent further attacks. Those who do not seek treatment for familial Mediterranean fever will often experience a large amount of protein buildup, which can lead to kidney failure. Treatment for this disorder includes nonsteroidal anti-inflammatory drugs such as colchicine therapy, often via drip.
Familial Mediterranean fever is also known as periodic disease, recurrent polyserositis, FMF, and periodic peritonitis. This disease is relatively rare, although it is a serious condition that should be addressed immediately. Often, Mediterranean fever is misdiagnosed, as the symptoms of this disease can mimic appendicitis.
A diagnosis of Mediterranean fever is often concluded based on family history, an elevated white blood cell count, and recurrence of symptoms. Also, some patients may be given a genetic test. While Mediterranean fever is probably linked to a mutation of the MEFV gene, the reasons why this mutation leads to Mediterranean fever attacks are largely unknown.
Additionally, the discrepancy between the intensity of pain experienced by each individual and the reasons why inflammation occurs within particular sections of the body is unclear at this time.
