Familial Mediterranean Fever, also known as recurrent polyserositis,
is is rare genetic disorder primarily affecting people of Mediterranean
descent, including Turks, Armenians, Arabs, and
Sephardic Jews. The disorder is extremely rare in Greeks and
Ashkenazi Jews.
Symptoms
Usually presents with:
- Sudden onset fever
- A red rash on the legs, usually below the knees
- Constipation followed by diarrhea
- Pleurisy, or lung inflammation
- Joint pain
Occasionally presents with:
- Inflammation of the scrotum
- Inflammation of the female reproductive organs
- Vasculitis
Cause
During an attack the serous tissue around the
abdominal cavity, joints, lungs and
the heart becomes inflamed, a condition known as
serositis. Neutrophils, the white-blood cells that
provide immune defense, crush into the area, causing a ruckus. This can
be a response to simple physical exertion, stress, or mild trauma.
The genetic defect for Familiar Mediterranean Fever seems to lie on
Chromosome 16. The chromosome, designated MEFV, controls
production of pyrin (alternatively called marenostrin), a protein
involved in the regulation of inflammation.
Treatment
Familial Mediterranean Fever is most often managed with colchicine, an alkaloid compound that mitigates inflammation.
If not managed, the disease can cause severe discomfort, kidney
failure, amyloidosis, or infertility.
Sources:
Mayo Clinic
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