Homozygous familial hypercholesterolemia (HoFH) is characterized by the presence of two alleles limiting low density lipoprotein receptor (LDLR) function, thus causing severe elevations in LDL cholesterol (LDL-C) and consequent early onset atherosclerotic heart disease and/or aortic stenosis in affected individuals.1,2 This condition affects about 1/300,000 individuals worldwide, and is more common in areas where there are founder alleles (e.g., South Africa, Lebanon, Quebec, the Amish) and/or higher rates of consanguinity. The gene discussed is LDLR; the disease is aortic stenosis.