Familial mediterranean fever

[Tariq Zaki]

Familial Mediterranean fever is a hereditary disorder characterized by episodes of high fever with abdominal pain or, less commonly, chest pain, joint pain, or a rash.

Familial Mediterranean fever is caused by a gene inherited from both parents.
Typically, most people have attacks of severe abdominal pain and a high fever.
The diagnosis usually is based on symptoms, but genetic testing is available.
This disorder may cause amyloidosis if not adequately treated.
Colchicine is taken to reduce or eliminate the number of painful attacks and eliminate the risk of kidney failure due to amyloidosis.

Familial Mediterranean fever is the most common hereditary periodic fever syndrome across all age groups. It occurs most commonly among people of Mediterranean origin (such as Sephardic Jews, North African Arabs, Armenians, Greeks, Italians, and Turks). However, this disorder has occurred among people of other origins (such as Ashkenazi Jews, Cubans, and Japanese). Up to 50% of people who have familial Mediterranean fever have family members, usually siblings, who have the disorder (family history).
Familial Mediterranean fever is caused by an abnormal recessive gene. That is, to develop the disorder, people usually must have two copies of the abnormal gene, one from each parent. However, rarely, only one copy of the abnormal gene may be enough to cause some symptoms.
The abnormal gene results in the production of a defective form of pyrin, a protein that regulates inflammation. There are a number of different possible mutations of the gene, not all of which have been identified, which may explain why some people with typical familial Mediterranean fever are not found to have a mutation in the gene. Alternatively, there may also be nongenetic and environmental factors that play a role in how this syndrome develops.