autosomal recessive hypercholesterolemia

Pathology

• defective internalization of LDL receptors (LDLR) in the liver
• tuberous & tendon xanthomata
• premature atherosclerosis
• LDL receptor (LDLR) activity measured in skin fibroblasts is normal
• LDL binding ability is normal

Genetics

• associated with defect in LDLRAP1 gene

Laboratory

• severely elevated plasma LDL cholesterol

More general terms

• hypercholesterolemia
• hyperlipoproteinemia type 2 (familial hypercholesterolemia)

Database

• OMIM: https://mirror.omim.org/entry/603813