LDLR and familial hypercholesterolemia: When xanthomas occur in children and adolescents, as in our case, a more severe form of hyperlipidemia should be suspected.5 Homozygous Familial Hypercholesterolemia wherein two abnormal LDL receptor genes are inherited, with resultant defective lipoprotein catabolism, usually presents with cutaneous xanthomas in early childhood and cardiovascular abnormalities in the second or third decade of life.