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Mutations in the MEFV gene. Family Mediterranean Fever

Jun 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.

Symptoms:

  • 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. 

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