LDLR / APOB / PCSK9 AD unreviewed
Familial hypercholesterolaemia
Enzyme or protein defect
LDL receptor (or apoB-100, PCSK9 gain-of-function)
Accumulates or becomes deficient
LDL cholesterol
Key features
Tendon xanthomas, xanthelasma, corneal arcus, premature coronary disease
Management
High-intensity statin, ezetimibe, PCSK9 inhibitor
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
Nothing is fetched until you ask, so the page stays fast and the request is yours rather than automatic.
Europe PMC · ten most recent, newest first