Abstract
Familial hypercholesterolaemia is an inherited disorder that substantially increases risk of coronary artery disease.1,2 Recent population data show that the heterozygous and homozygous forms of familial hypercholesterolaemia affect one in 2001 and one in 160 000–300 000 people,3 respectively, worldwide. Plasma concentrations of LDL cholesterol (LDL-C) are increased in the disorder because of hypocatabolism of LDL particles by the liver, which is related to the severity of underlying genetic mutations mostly affecting the LDL receptor gene.
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