LDLR and Hypercholesterolemia: 2003). In the recessive hypercholesterolaemia cases, pathogenic variants in genes that are involved in LDL‐receptor recycling (LDLRAP1), or other aspects of intestinal cholesterol absorption, where mutations in two genes (ABCG5/ABCG8) cause an elevation of plant sterols in the blood and the disorder sitosterolaemia, or hepatic lipid metabolism (LALD), have been identified and will not be discussed here.