Familial hypercholesterolemia (FH) is a common autosomal genetic disorder mainly caused by pathogenic mutations in genes encoding low-density lipoprotein receptor (LDLR), apolipoprotein B (ApoB) and proprotein convertase subtilisin kexin 9 (PCSK9) (Benn et al., 2016). The gene discussed is LDLR; the disease is familial hyperaldosteronism.