What is Familial Mediterranean Fever?

Familial Mediterranean fever is a hereditary disorder that affects people from Mediterranean regions. This disorder tends to impact Greeks, Armenians, Sephardi Jews, Turks, and people of Arabic descent. Familial Mediterranean fever attacks are thought to be caused by mutations of the MEFV gene.

The MEFV gene is responsible for creating pyrin protein, which is an essential protein. Pyrin helps to regulate inflammation within the body. When there is a lack of this protein, the body cannot effectively fight off inflammation. Thus, those suffering from Mediterranean fever lack pyrin protein. In some instances, fever attacks lead to hospitalization.

Those that are currently affected by this disorder also have a fifty to seventy percent chance of passing on the disorder to their offspring. The illness itself includes pain within the abdominal, chest, and joint areas. On occasion, some patients have reported scrotal pain, myalgia, erysipeloid, and fever exclusive of 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 caused by familial Mediterranean fever during their adolescent years, though some people can experience pain caused by this disorder later in life. Generally, attacks last anywhere from 12 to 72 hours, and the intensity of an attack will fluctuate depending upon the person.

Treatment is necessary in order 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 non-steroidal anti-inflammatory drugs such as colchicine therapy, often through intravenous drip.

Familial Mediterranean fever is also known as periodic disease, recurrent polyserositis, FMF, and periodic peritonitis. This illness is relatively rare, though it is a serious condition that should be addressed right away. Often, Mediterranean fever is misdiagnosed, since the symptoms of this disease can mimic appendicitis.

A diagnosis of Mediterranean fever is often concluded based upon family history, an elevated white blood cell count, and repeat symptoms. In addition, a genetic test may be administered to certain patients. While Mediterranean fever is likely linked to a MEFV gene mutation, the reasons why this mutation leads to Mediterranean fever attacks is largely unknown.

Further, the discrepancy between the intensity of pain experienced by each individual, and the reasons why inflammation occurs within particular sections of the body is not clear at this time.