LDLR and familial hypercholesterolemia: The term ‘familial hypercholesterolemia’ (FH) is generallyused to refer to monogenic diseases caused by mutationsin the low-density lipoprotein (LDL) receptor (LDLR) gene(OMIM 606945), in the apolipoprotein B (APOB) gene(OMIM 107730), in the PCSK9 gene (OMIM 607786), in theadapter protein gene for the LDL receptor LDLRAP1 (OMIM605747) and some minor genes, such as STAP1, APOE, LIPA,or in the sterol transporter genes, sterolins ABCG5/ABCG8(Defesche et al., 2017; Berberich, Hegele, 2019).