RT Journal Article
SR Electronic
T1 Familial hypercholesterolemia: Detect, treat, and ask about family
JF Cleveland Clinic Journal of Medicine
JO Cleve Clin J Med
FD Cleveland Clinic
SP 109
OP 120
DO 10.3949/ccjm.87a.19021
VO 87
IS 2
A1 Shah, Nishant P.
A1 Ahmed, Haitham M.
A1 Wilson Tang, W. H.
YR 2020
UL http://www.ccjm.org/content/87/2/109.abstract
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.