Review

Familial hypercholesterolemia: Detect, treat, and ask about family

Nishant P. Shah, MD, Haitham M. Ahmed, MD, MPH and W. H. Wilson Tang, MD
Cleveland Clinic Journal of Medicine February 2020, 87 (2) 109-120; DOI: https://doi.org/10.3949/ccjm.87a.19021

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ABSTRACT

Familial hypercholesterolemia is an autosomal dominant disorder that affects the metabolism of low-density lipoprotein cholesterol (LDL-C) through mutations in the gene for LDL receptor (LDLR), and less commonly in those for apolipoprotein B (APOB), proprotein convertase subtilisin-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.

Footnotes

  • Dr. Tang has disclosed serving as a consultant for MyoKardia and Sequana Medical.

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