家族性高胆固醇血症
光学(聚焦)
医学
老年学
内科学
胆固醇
物理
光学
作者
Junji Kobayashi,Takuya Minamizuka,Hayato Tada,Koutaro Yokote
标识
DOI:10.1016/j.cca.2024.117847
摘要
Familial hypercholesterolemia (FH) is an inherited disorder characterized by increased low-density lipoprotein LDL) cholesterol and atherosclerotic cardiovascular disease. Although initial genetic analysis linked FH to LDL receptor mutations, subsequent work demonstrated that a gain-of-function mutation in the proprotein convertase subtilisin/kexin type 9 (PCSK9), which causes LDL-R degradation, was shown to be the cause of FH. In this review, we describe the history of research on FH, its clinical phenotyping and genotyping and advances in treatment with special focus on Japan.
科研通智能强力驱动
Strongly Powered by AbleSci AI