Fièvre méditerranéenne familiale

Familial Mediterranean Fever (FMF) is an hereditary disease that especially
affects people living around the Mediterranean sea. It is characterized by
recurring fever and abdominal pain, eventually associated with localised
pleuritis, synovitis or skin inflammation. The most serious complication is
amyloidosis, which can lead to terminal renal failure. The attacks and
complications can be avoided by life long administration of colchicine. Two
independent French and American teams discovered the gene responsible for the
disease in 1997. It encodes for a protein named pyrin/marenostrin involved in the
homeostasis the inflammatory mechanisms. The main mutations have been identified
and are henceforth accessible for molecular screening.