PT - JOURNAL ARTICLE AU - Shah, Nishant P. AU - Ahmed, Haitham M. AU - Wilson Tang, W. H. 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.