Mutations in the MEFV gene. Family Mediterranean FeverJun 4, 2021
Periodic disease or familial Mediterranean fever is a hereditary disease that occurs due to inherited mutations in the MEFV gene.
- It is characterized by episodes of spontaneous inflammatory process.
- At the same time, there is no infectious disease.
Periodic disease mainly occurs in people of Mediterranean origin (Turks, Arabs, Armenians, Jews).
- It occurs with a frequency of 1:100-1: 400 and in most cases begins to manifest itself in childhood or adolescence.
- spontaneous increase in body temperature;
- abdominal pain;
- chest or joint pain;
- in some cases, a rash or headache appears.
As a rule, the period of seizures lasts from 12 to 72 hours and can vary in severity.
- The intervals between attacks also vary greatly: they can be from a few days to several years.
During this time, patients do not experience any symptoms of the disease.
- However, the lack of appropriate treatment aimed at preventing seizures and complications can lead to amyloidosis of the kidneys and, as a result, to serious consequences – kidney failure.
At the Center for Personalized MedicineThe MCSC conducts various types of research on the MEFV gene.