Familial Mediterranean Fever syndrome - diagnosis

Familial Mediterranean Fever syndrome - diagnosis

Familial Mediterranean Fever - an inherited genetic disorder that results in repeated episodes of arthritis (INFLAMMATION of the joints), PERITONITIS (inflammation of the membrane that lines the abdominal cavity), pleuritis (inflammation of the membrane that surrounds the LUNGS), and PERICARDITIS (inflammation of the membrane that contains the HEART). FEVER accompanies the outbreaks of inflammation, which occur without apparent precipitating factors and not in any particular pattern. In some people the disorder also includes AMYLOIDOSIS, in which deposits of amyloid (a waxlike substance) accumulate in organs such as the KIDNEYS.

Symptoms of Familial Mediterranean Fever and Diagnosis

Familial Mediterranean fever, as the name implies, occurs predominantly among people of Mediterranean descent and is an autosomal recessive disorder. The responsible mutated GENE is on the short arm of CHROMOSOME 16. At present there are no genetic tests or diagnostic procedures that conclusively diagnose familial Mediterranean fever; the doctor makes the diagnosis on the basis of family history and the pattern of symptoms.

See also AUTOSOME; GENETIC DISORDERS; INHERITANCE PATTERNS; MUTATION; RENAL FAILURE.

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Genetics and Molecular Medicine

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