TY - JOUR T1 - Familial hypercholesterolemia: Detect, treat, and ask about family JF - Cleveland Clinic Journal of Medicine JO - Cleve Clin J Med SP - 109 LP - 120 DO - 10.3949/ccjm.87a.19021 VL - 87 IS - 2 AU - Nishant P. Shah AU - Haitham M. Ahmed AU - W. H. Wilson Tang Y1 - 2020/02/01 UR - http://www.ccjm.org/content/87/2/109.abstract N2 - 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. ER -