PT  - JOURNAL ARTICLE
AU  - Nishant P. Shah
AU  - Haitham M. Ahmed
AU  - W. H. Wilson Tang
TI  - Familial hypercholesterolemia: Detect, treat, and ask about family
AID  - 10.3949/ccjm.87a.19021
DP  - 2020 Feb 01
TA  - Cleveland Clinic Journal of Medicine
PG  - 109--120
VI  - 87
IP  - 2
4099  - http://www.ccjm.org/content/87/2/109.short
4100  - http://www.ccjm.org/content/87/2/109.full
SO  - Cleve Clin J Med2020 Feb 01; 87
AB  - 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.