Grundy S M
Am J Cardiol. 1984 Aug 27;54(5):20C-26C. doi: 10.1016/0002-9149(84)90852-x.
Most forms of hyperlipoproteinemia are the result of at least 1 to 4 basic defects of lipoprotein metabolism. Hypercholesterolemia is most commonly due to decreased activity of receptors for low-density lipoproteins (LDL). A deficiency of LDL receptors can be caused by either a genetic defect in the structure of the receptor or metabolic suppression of receptor synthesis by genetic factors or dietary saturated fatty acids and cholesterol. An elevation of triglycerides in chylomicrons or very low density lipoproteins (VLDL) can be secondary to a reduced activity of lipoprotein lipase, and an increase in the catabolic remnants of these lipoproteins can be due to an abnormal isoform of apolipoprotein E, the apolipoprotein that mediates hepatic uptake of lipoprotein remnants. Finally, hepatic overproduction of VLDL can produce hypertriglyceridemia, or if there is a concomitant defect in clearance of lipoproteins, an accentuated increase of VLDL, remnants or LDL will occur. Thus, lipoprotein overproduction can give rise to multiple lipoprotein phenotypes in a single family. Specific therapy of hyperlipoproteinemia should be directed toward correcting these metabolic defects.
大多数类型的高脂蛋白血症是脂蛋白代谢至少1至4种基本缺陷的结果。高胆固醇血症最常见的原因是低密度脂蛋白（LDL）受体活性降低。LDL受体缺乏可能由受体结构的遗传缺陷或遗传因素、饮食饱和脂肪酸和胆固醇对受体合成的代谢抑制引起。乳糜微粒或极低密度脂蛋白（VLDL）中甘油三酯升高可能继发于脂蛋白脂肪酶活性降低，这些脂蛋白分解代谢残余物增加可能是由于载脂蛋白E异常异构体所致，载脂蛋白E介导肝脏摄取脂蛋白残余物。最后，肝脏VLDL过度生成可导致高甘油三酯血症，或者如果存在脂蛋白清除的伴随缺陷，VLDL、残余物或LDL将出现明显增加。因此，脂蛋白过度生成可在单个家族中产生多种脂蛋白表型。高脂蛋白血症的特异性治疗应针对纠正这些代谢缺陷。
