Familial hypercholesterolemia: Detect, treat, and ask about family

[摘要] 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.

[学科分类] 卫生学