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 recent and relevant information available related to diagnostic criteria, prevalence, awareness, clinical characteristics, genetic epidemiology, and treatment in the FH population of Southeast and East Asia. Increasing awareness and improving the diagnosis and management of FH will reduce the burden of premature CHD in these regions of the world.
Keywords: Awareness; Coronary heart disease; Diagnostic criteria; East Asia; Familial hypercholesterolemia; Genetic testing; Prevalence; Southeast Asia.
© 2021 The Authors. Published by Elsevier B.V.