Duke Heart Center; Assistant Professor of Medicine in Cardiology, Duke University School of Medicine, Durham, NC
AdvantageCare Physicians, New York, NY.
Cleve Clin J Med. 2020 Feb;87(2):109-120. doi: 10.3949/ccjm.87a.19021.
Familial hypercholesterolemia is an autosomal dominant disorder that affects the metabolism of low-density lipo-protein cholesterol (LDL-C) through mutations in the gene for LDL receptor (), and less commonly in those for apolipoprotein B (), proprotein convertase subtili-sin-kexin type 9 (), 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.
家族性高胆固醇血症是一种常染色体显性遗传病，通过 LDL 受体（）基因突变，以及较不常见的载脂蛋白 B（）、枯草溶菌素转化酶 9（）和其他基因突变，影响低密度脂蛋白胆固醇（LDL-C）的代谢。这些突变患者的血浆 LDL-C 水平升高，因此，儿童时期开始就会增加动脉粥样硬化性心血管疾病的风险，导致严重的发病和死亡风险。
