Definition: A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins).
Other names Hypercholesterolemia, Familial; Hypercholesterolemia, Essential; Hyperbetalipoproteinemia; Type 2s, Hyperlipoproteinemia; Type 2, Hyperlipoproteinemia; Receptor Disorders, LDL; Receptor Disorder, LDL; Lipoproteinemias, Hyper-Low Density; Lipoproteinemia, Hyper-Low Density; LDL Receptor Disorders; Hyperlipoproteinemias, Familial Combined; Hyperlipoproteinemia, Familial Combined; Hyperlipoproteinemia Type IIs; Hyperlipoproteinemia Type IIbs; Hyperlipoproteinemia Type IIas; Hyperlipoproteinemia Type 2s; Hypercholesterolemias, Familial; Hypercholesterolemias, Essential; Hypercholesterolemias, Autosomal Dominant; Hyperbetalipoproteinemias
