Familial hypercholesterolemia (MIM#143890), an inherited rare disease mainly caused by the mutation of low-density lipoprotein receptor (LDLR) gene or apolipoprotein B (APOB) gene in autosomal dominant pattern, which is typically associated with premature coronary artery disease (CAD) (Defesche et al., 2017). The gene discussed is LDLR; the disease is familial hypercholesterolemia.