Familial hypercholesterolemia in Southeast and East Asia.

ABSTRACT: Familial hypercholesterolemia (FH) is a relatively common autosomal dominant disorder associated with a significantly increased risk of coronary heart disease (CHD). Most (~85-90%) cases are due to pathogenic variants in the LDL-receptor gene (LDLR), while the remaining are due to pathogenic variants in the apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes, though the proportion may vary depending on geographic location. Even though at least a quarter of the world's FH population lives in Southeast and East Asia, there are substantial gaps in knowledge regarding the epidemiology of FH due to low awareness, the absence of national screening programs, and limited availability of genetic testing. In this review, we discuss the most re

SUBMITTER: Jackson CL 

PROVIDER: S-EPMC8315601 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature