[Familial hypercholesterolemia: epidemiology, genetics, diagnosis, and screening].

Abstract excerpt

Familial hypercholesterolaemia (FH) is an autosomal dominant genetic disorder characterized by el- evated plasma levels of low-density lipoprotein-cholesterol (LDL-C) and increased risk of premature coronary heart disease. There are two types of FH, namely homozygous and heterozygous FH. FH is most commonly (85%) attributable to mutations in the LDL receptor (LDL-R) gene. Other rare causes are the mutations of...

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