Genetic backgrounds and diagnosis of familial hypercholesterolemia
CLINICAL GENETICS(2024)
摘要
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.
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关键词
familial combined hyperlipidemia,familial hypercholesterolemia,low-density lipoprotein receptor,low-density lipoprotein cholesterol,proprotein convertase subtilisin/kexin type 9
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