Familial hypercholesterolemia (FH) is an inherited autosomal disorder caused predominantly by loss of function mutations in one or both alleles of the low-density lipoprotein receptor (LDLR).1 FH is characterized by high levels of LDL-cholesterol, premature atherosclerosis, and progression into coronary heart disease (CHD). The gene discussed is LDLR; the disease is familial hypercholesterolemia.