Familial Mediterranean fever
Familial Mediterranean Fever (FMF) is a hereditary inflammatory disorder that affects groups of patients whose ancestors lived around the Mediterranean Sea (hence its name). It is prominently present in the Armenian people (up to 1 in 7 affected), Sephardi Jews (and, to a much lesser extent, Ashkenazi Jews), people from Turkey, the Arab countries and Lebanon.
Clinical symptoms
FMF is characterised by recurrent attacks of fever and inflammation in the peritoneum (lining of the abdominal cavity), synovium (lining of the joints), or pleura (lining to the chest cavity), accompanied by pain. Occasionally, scrotal swelling in young male patients is reported.
AA-Amyloidosis with renal failure is a complication and may develop without overt crises. AA (amyloid protein) is produced in large quantities during attacks and at a low rate between them, and accumulates mainly in the kidney, as well as the heart, spleen, gastrointestinal tract and the thyroid.
Attacks start suddenly and last 6 hours to 4 days, and occur about once a month. 90% of all patients have their first attack before they are 20 years old.
Pathophysiology
Most cases are due to a mutation in a protein called pyrin or marenostenin. The gene is located on the 16th chromosome (16p13).
References
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