Article
Familial hypercholesterolaemia in Finland: common, rare and mild mutations of the LDL receptor and their clinical consequences. Finnish FH-group.
Annals of medicine - 1 Sept 2001
Vuorio A F, Aalto-Setälä K, Koivisto U M, Turtola H, Nissen H, Kovanen P T, Miettinen T A, Gylling H, Oksanen H, Kontula K
Abstract excerpt
Familial hypercholesterolaemia (FH) is an autosomal co-dominantly inherited condition resulting from mutations of the low-density lipoprotein (LDL) receptor which occur in heterozygous form in approximately one in 500 individuals. Clinically, FH is characterized by 2-3-fold elevation of serum LDL cholesterol levels, accelerated development of atherosclerotic vascular disease, and, if untreated, shortened...
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