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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