Familial hypercholesterolemia (FH) is an autosomal co-dominant disorder marked by extremely high low-density lipoprotein (LDL) cholesterol levels and concomitant premature vascular disease. FH is caused by mutations that most commonly affect three genes integrally involved in the LDL receptor's ability to clear LDL particles from the circulation. Primary intervention efforts to lower LDL cholesterol have centered on therapies that upregulate the LDL receptor. Unfortunately, most patients are insufficiently responsive to traditional LDL-lowering medications. This article focuses primarily on the clinical management of homozygous FH.
- Familial hypercholesterolemia
- LDL apheresis
- Lipid-lowering therapy
- Low-density lipoprotein cholesterol
- PCSK9 inhibitors
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine