What is Familial Mediterranean Fever (FMF)?

It is a hereditary rheumatic disease. It is most common in countries with a coast to the Mediterranean and located on migration routes. For this reason, it is a disease called Familial Mediterranean Fever in the literature in English and abbreviated as FMF. It is common in Jewish, Armenian, Arab and Turkish societies. One of the reasons for this is that consanguineous marriages are more common in these societies. 8 out of 1000 people in Turkey have this disease. Interestingly, although it is so common, diagnosis can be delayed for years.

It is a genetic disease. 16. In the short arm of the chromosome, there is the MEFV gene region in the gene region that controls the immune system for the regular functioning of normal people. As a result of the mutation (genetic break) that develops in this region, the disease occurs when it cannot perform its functions regularly and inflammation begins. It is an autoinflammatory disease. It progresses with a cycle of attacks and remission (recovery). It is polyserositis (affecting all membrane areas in the body). As a result, during the attack period, abdominal pain, chest pain, muscle pain, heart pain, joint pain and swelling occur with fever, sometimes accompanied by red rashes (snake-like) on the skin. Rarely, vascular inflammation (vasculitis), amyloidosis, and in boys, testicular membrane inflammation (orchitis) can be seen. Even if nothing is done, the attack usually ends within 1 week. The person continues his normal life. For the full picture of the disease to emerge, 2 chromosomes (one from the mother and one from the father) are needed. If the mutant gene region is inherited from a single parent (either from the mother or father), then carriers can be mentioned. However, sometimes the genetic mutation is so predisposed to express itself clinically that all signs of the disease can be seen in carriers.

Family history is very important in this disease. Not only parents, siblings, but also grandparents, aunts, aunts, uncles, nephews and cousins ​​may have this disease, so they should be questioned.

In fact, although there are findings since childhood, the diagnosis is usually made around the age of 20. Findings are affected by environmental factors and may become more severe or less severe over time.

The diagnosis is first made by the doctor’s suspicion of this disease, then by showing the increase in inflammation values ​​during the attack period, and then by genetic testing. The genetic test may not be positive in every patient, because the most common mutations are studied in screening, and the mutation of the person may be a mutation outside of this group. Therefore, being able to evaluate clinical findings is the most important diagnostic method.

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