Familial Mediterranean fever (FMF) is the most prevalent type of hereditary
recurrent fever. Although the inflammatory attacks that characterize the d
isease may sometimes be debilitating, reactive amyloidosis remains the most
serious manifestation of FMF. Daily treatment with colchicine can prevent
both the attacks and amyloid deposition, but FMF-associated amyloidosis has
not been eradicated and is still a cause of chronic renal failure in child
ren and adults. The discovery of the gene responsible for FMF, Mediterranea
n fever gene (MEFV), and of associated mutations represents a major advance
that now allows researchers to establish a strong, although nonexclusive a
ssociation between one specific mutation, M694V, and the amyloid phenotype,
(C) 2000 Lippincott Williams & Wilkins, Inc.