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家族性乳糜微粒血症是罕见的常染色体隐性遗传病，主要病因是血浆脂蛋白脂酶（ＬＰＬ）功能异常。ＬＰＬ的正常功能是在载脂蛋白ＣⅡ的协同下，水解乳糜微粒及低密度脂蛋白中的甘油三酯（ＴＧ）。此酶活性降低可导致血浆中乳糜微粒大量蓄积，伴ＴＧ浓度升高．家族性ＬＰＬ缺乏
Familial chylomicronemia is a rare autosomal recessive disease mainly caused by dysfunction of plasma lipoprotein lipase (LPL). The normal function of LPL is to hydrolyze triglycerides (TG) in chylomicrons and low-density lipoproteins with the aid of apolipoprotein CII. This decrease in enzyme activity leads to a significant accumulation of chylomicrons in the plasma with elevated TG levels. Lack of familial LPL