Genetic defects of LDL-cholesterol removal are relatively common, occurring in approximately one in five hundred of the population. Many mutations have been described at the LDL-receptor gene locus, leading to the clinical manifestations of familial hypercholesterolaemia. These mutations, when inherited from one parent, result in approximately a fifty per cent reduction in LDL-receptor activity, known as heterozygous familial hypercholesterolaemia.
