Genetic backgrounds and diagnosis of familial hypercholesterolemia

Abstract

Lipid disorders play a critical role in the intricate development of atherosclerosis and its clinical consequences, such as coronary heart disease and stroke. These disorders are responsible for a significant number of deaths in many adult populations worldwide. Familial hypercholesterolemia (FH) is a genetic disorder that causes extremely high levels of LDL cholesterol. The most common mutations occur in genes responsible for low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin/kexin type 9 (PCSK9). While genetic testing is a dependable method for diagnosing the disease, it may not detect primary mutations in 20%-40% of FH cases.

Keywords: familial combined hyperlipidemia; familial hypercholesterolemia; low-density lipoprotein cholesterol; low-density lipoprotein receptor; proprotein convertase subtilisin/kexin type 9.