关键词: 高胆固醇血症, 胆固醇, LDL, 家族性, 他汀类药物, 瀑布式筛查

Abstract: Familial hypercholesterolemia is an autosomal dominant inherited disorder of lipoprotein metabolism. It is a common genetic cause of premature atherosclerotic cardiovascular disease. Although the terminal adverse events of this disease occur frequently in middle-aged and elderly people, the damage to the blood vessels begins in the fetal period. Most patients with familial hypercholesterolemia are caused by mutations in the low density lipoprotein receptor (LDLR), apolipoprotein B (APOB) and proprotein converting enzyme subtilisin 9 (PCSK9). For children, the level of low density lipoprotein cholesterol (LDL-C) is more than 5 mmol/L after dietary control for three months, which is highly suggestive of the disease. Early detection of patients can be achieved by cascade screening for index patients. Statin therapy from childhood can improve vascular function. Therefore, early diagnosis and early intervention are important for improving prognosis. This article reviews the etiology, diagnosis, treatment and screening of the disease.

Key words: hypercholesterolemia, cholesterol, LDL, familial, statins, cascade screening