It is a hereditary rheumatic disease. It is most common in countries that have a coast to the Mediterranean and are on migration routes. For this reason, it is a disease called Familial Mediterranean Fever in the English literature and abbreviated as FMF. It is common in Jewish, Armenian, Arab and Turkish societies. One reason for this may be 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 may be delayed for years.
It is a genetic disease. On the short arm of chromosome 16, there is a gene region - the MEFV gene region - that controls the regular functioning of the immune system in normal individuals. As a result of the mutation (genetic break) in this region, the disease occurs when it cannot function properly and inflammation begins. It is an autoinflammatory disease. It progresses with a cycle of attack and remission (recovery). Polyserositis (affecting all membrane areas in the body). As a result, during the attack, abdominal pain, chest pain, muscle pain, heart pain, joint pain and swelling occur along with fever, sometimes accompanied by red rashes (snake-like) on the skin. Rarely, inflammation of the blood vessels (vasculitis), amyloidosis and, in boys, inflammation of the testicular membrane (orchitis) may occur. Even if nothing is done, the attack usually ends spontaneously 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 comes from a single parent (either from the mother or father), carrier status can be mentioned. However, sometimes the genetic mutation is so prone to manifest itself clinically that all the symptoms of the disease can be seen in carriers.
Family history is very important in this disease. It should be questioned as not only parents, siblings, but also grandparents, aunts, uncles, nephews and cousins may have this disease.
Although findings have been present since childhood, it is usually diagnosed around the age of 20. Findings are affected by environmental factors, and may become more severe or less severe over time.
Diagnosis is first made by the doctor's suspicion of this disease, and then by diagnosis. It is diagnosed by genetic testing following the increase in inflammation levels in the k period. Genetic testing may not be positive in every patient, because the most common mutations are studied in screening, and the person's mutation may be a mutation outside this group. Therefore, being able to evaluate clinical findings is the most important diagnostic method.
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