autosomal recessive hypercholesterolemia

A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessi

A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36.

Signs and symptoms

• Hypertriglyceridemia
• Decreased circulating LDL-C concentration
• Hypercholesterolemia
• Tendon xanthomatosis
• Atherosclerosis

Also known as: ARH; ARH1; ARH2; FHCB1; FHCB2