Genetic Diagnosis of Familial Hypercholesterolemia in Asia

Abstract

Familial hypercholesterolemia (FH) is a common genetic disease with an incidence of about 1 in 200-500 individuals. Genetic mutations markedly elevate low-density lipoprotein cholesterol and atherosclerotic cardiovascular disease (ASCVD) in FH patients. With advances in clinical diagnosis and genetic testing, more genetic mutations have been detected, including those in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9), and so on. Globally, most FH patients remain undiagnosed, untreated, or inappropriately treated. Recently, there was a Global Call to Action by the Global Familial Hypercholesterolemia Community to reduce the health burden of FH. Asia, despite being the most populous continent with half of the global population, has low FH detection rates compared to Western countries. Therefore, we aimed to review the current status of FH genetic diagnosis in Asia to understand the gaps in FH diagnosis and management in this region.

Keywords: Asia; apolipoprotein B; diagnosis; familial hypercholesterolemia; gene; low-density lipoprotein receptor; mutation; proprotein convertase subtilisin/kexin type 9.