[Familial Mediterranean fever: an ancient hereditary disease].
Familial Mediterranean fever (FMF) is an autosomal recessive disorder that mainly affects people living around the Mediterranean sea (i.e. Turks, Armenians, Arabs and Jews), but cases of FMF are now being increasingly diagnosed in every country of the world (including Italy). Described for the first time in 1945, it has recently become more relevant, after the discovery of the responsible gene, the MEFV gene which encodes a 781-aminoacid protein called pyrin that seems to play a role in the regulation of the inflammatory process. As the prototype of an emerging group of disorders fated to become more and more popular--the hereditary auto-inflammatory disorders--FMF is an under-diagnosed cause of fever of unknown origin. Fever is the main but not the only symptom; sterile serosites are the most common associated features. The classical clinical picture is being continuously enriched. Geno-phenotype correlations and interval-free symptoms are the new clinical insights, while fundamentally important studies attempt to enlighten its obscure pathogenesis. In spite of the introduction of alternative treatments, colchicine is still the only suitable drug for the prevention of acute episodes and the development of amyloidosis.
Nucera
Gabriella
G
Istituto di Medicina Interna, Università Cattolica del Sacro Cuore di Roma.
La Regina
Micaela
M
Diaco
Marialuisa
M
Neri
Giovanni
G
Gasbarrini
Giovanni
G
Manna
Raffaele
R
D000465:Algorithms; D010505:Familial Mediterranean Fever / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology / Q000235:genetics / Q000628:therapy; D006801:Humans; D011379:Prognosis; D013997:Time Factors