Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

摘要: 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 (ASCVD) FH patients. With advances clinical diagnosis testing, more have been detected, including those receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9), so on. Globally, most patients remain undiagnosed, untreated, or inappropriately treated. Recently, there was Global Call to Action by the Hypercholesterolemia Community reduce health burden FH. Asia, despite being populous continent half global population, has low detection rates compared Western countries. Therefore, we aimed review current status Asia understand gaps management this region.