关键词: 脂代谢, 单基因, 低密度脂蛋白胆固醇, 甘油三酯, 高密度脂蛋白胆固醇

Abstract: Monogenetic disorders of the lipid metabolism are closely related to atherosclerotic cardiovascular diseases. Different mutations contribute to different pathogenesis and clinical presentations. Mutations in endogenous lipid metabolic pathway increase the levels of serum low density lipoprotein cholesterol or total cholesterol; mutations in exogenous lipid metabolism cause hypertriglyceridemia and mixed dyslipidemia; mutations in the reverse cholesterol transport lead to high density lipoprotein abnormalities.

Key words: lipid metabolism, monogenetic, low density lipoprotein cholesterol, triglyceride, high density lipoprotein cholesterol