Familial hypercholesterolemia: Detect, treat, and ask about family.
Journal Article (Review)
Familial hypercholesterolemia is an autosomal dominant disorder that affects the metabolism of low-density lipo-protein cholesterol (LDL-C) through mutations in the gene for LDL receptor (LDLR), and less commonly in those for apolipoprotein B (APOB), proprotein convertase subtili-sin-kexin type 9 (PCSK9), and others. Patients with these mutations have elevated plasma levels of LDL-C and, as a result, an increased risk of atherosclerotic cardiovascular disease beginning in childhood, leading to significant risk of illness and death.
Full Text
Duke Authors
Cited Authors
- Shah, NP; Ahmed, HM; Wilson Tang, WH
Published Date
- February 2020
Published In
Volume / Issue
- 87 / 2
Start / End Page
- 109 - 120
PubMed ID
- 32015064
Pubmed Central ID
- 32015064
Electronic International Standard Serial Number (EISSN)
- 1939-2869
Digital Object Identifier (DOI)
- 10.3949/ccjm.87a.19021
Language
- eng
Conference Location
- United States