Familial hypercholesterolemia (FH)

家族性高胆固醇血症

英文解释

Familial hypercholesterolemia (FH) is an inherited disorder with retarded clearance of plasma LDL caused by mutations of the genes involved in the LDL receptor-mediated pathway and most of them exhibit autosomal dominant inheritance.

中文解释

家族性高胆固醇血症 (FH) 是一种遗传性疾病，由参与 LDL 受体介导途径的基因突变引起血浆 LDL 清除延迟，其中大多数表现出常染色体显性遗传。

参考文献

[1]. Atsushi Nohara, et al. Homozygous Familial Hypercholesterolemia. J Atheroscler Thromb. 2021 Jul 1;28(7):665-678.