Familial hypercholesterolemia (FH) is an autosomal dominant condition caused by mutations in the LDL-receptor gene (LDLR), the apolipoprotein B gene (APOB) or the proprotein convertase subtilisin/kexin type 9 gene (PCSK9), resulting in elevated LDL-cholesterol from the first year of life, a high life-long exposure to LDL-cholesterol, and high risk of premature cardiovascular disease [6,7]. The gene discussed is APOB; the disease is familial hypercholesterolemia.