Familial hypercholesterolemia: Detect, treat, and ask about family.
Publication
, Journal Article
Shah, NP; Ahmed, HM; Wilson Tang, WH
Published in: Cleve Clin J Med
February 2020
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.
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Published In
Cleve Clin J Med
DOI
EISSN
1939-2869
Publication Date
February 2020
Volume
87
Issue
2
Start / End Page
109 / 120
Location
United States
Related Subject Headings
- Risk Assessment
- Receptors, LDL
- Practice Guidelines as Topic
- PCSK9 Inhibitors
- Medical History Taking
- Hyperlipoproteinemia Type II
- Hydroxymethylglutaryl-CoA Reductase Inhibitors
- Humans
- Genetic Testing
- General & Internal Medicine
Citation
APA
Chicago
ICMJE
MLA
NLM
Shah, N. P., Ahmed, H. M., & Wilson Tang, W. H. (2020). Familial hypercholesterolemia: Detect, treat, and ask about family. Cleve Clin J Med, 87(2), 109–120. https://doi.org/10.3949/ccjm.87a.19021
Shah, Nishant P., Haitham M. Ahmed, and W. H. Wilson Tang. “Familial hypercholesterolemia: Detect, treat, and ask about family.” Cleve Clin J Med 87, no. 2 (February 2020): 109–20. https://doi.org/10.3949/ccjm.87a.19021.
Shah NP, Ahmed HM, Wilson Tang WH. Familial hypercholesterolemia: Detect, treat, and ask about family. Cleve Clin J Med. 2020 Feb;87(2):109–20.
Shah, Nishant P., et al. “Familial hypercholesterolemia: Detect, treat, and ask about family.” Cleve Clin J Med, vol. 87, no. 2, Feb. 2020, pp. 109–20. Pubmed, doi:10.3949/ccjm.87a.19021.
Shah NP, Ahmed HM, Wilson Tang WH. Familial hypercholesterolemia: Detect, treat, and ask about family. Cleve Clin J Med. 2020 Feb;87(2):109–120.
Published In
Cleve Clin J Med
DOI
EISSN
1939-2869
Publication Date
February 2020
Volume
87
Issue
2
Start / End Page
109 / 120
Location
United States
Related Subject Headings
- Risk Assessment
- Receptors, LDL
- Practice Guidelines as Topic
- PCSK9 Inhibitors
- Medical History Taking
- Hyperlipoproteinemia Type II
- Hydroxymethylglutaryl-CoA Reductase Inhibitors
- Humans
- Genetic Testing
- General & Internal Medicine