原发性高甘油三酯血症是由于血浆中的甘油三脂持续升高,达到了一个高水平而造成的一组症候。甘油三酯代高血代谢紊乱的病人往往带有家族性,提示某些基因的遗传缺陷可能是导致高甘油三酯血症的原因之一,具有常染色体隐性遗传特性。引起家族性乳糜微粒血症的两个主要因素是脂蛋白脂酶(LPL)以及LPL的协同因了载脂蛋白C-Ⅱ(apoC-Ⅱ)的异常。对于这些基因变异目前已经有了比较成熟的检验方法 ,但是基因治疗尚处在研究阶段。 Primary hypertriglyceridemia is a group of symptoms caused by a sustained increase in plasma triglycerides reaching a high level. Patients with disorders of hypertriglyceridemia are often familial, suggesting that genetic defects in certain genes may be responsible for hypertriglyceridemia and have autosomal recessive inheritance. The two major contributors to familial chylomicrone are the synergism of lipoprotein lipase (LPL) and LPL due to the abnormality of apolipoprotein C-II (apoC-II). At present, there are more mature test methods for these gene mutations, but gene therapy is still in the research stage.