Hypercholesterolemia, Familial
Essential Hypercholesterolemia; Essential Hypercholesterolemias; Familial Hypercholesterolemia; Familial Hypercholesterolemias; Hyperbetalipoproteinemias; Hypercholesterolemias, Essential; Hypercholesterolemias, Familial; Hyperlipoproteinemia Type IIs
A familial disorder characterized by increased plasma concentration of cholesterol carried in low density lipoproteins (LDL) and by a deficiency in a cell surface receptor which regulates LDL degradation and cholesterol synthesis.