Thompson G R
Hammersmith Hospital, London, United Kingdom.
Drugs. 1988;36 Suppl 3:51-4. doi: 10.2165/00003495-198800363-00013.
Lipids are transported in plasma as lipoproteins, and an increase in 1 or more classes of lipoprotein underlies all forms of hyperlipidaemia. Physiological influences on lipoprotein metabolism are age, gender, bodyweight, diet and exercise. Pathological influences include genetic abnormalities, endocrine dysfunction, renal impairment and iatrogenic effects. Three inherited forms of hyperlipidaemia which predispose to atherosclerosis are familial hypercholesterolaemia (FH), type III hyperlipoproteinaemia and familial combined hyperlipidaemia (FCH), each of which has its own distinctive metabolism defect. In FH, deficiency of low density lipoprotein (LDL) receptors results in the accumulation in plasma of LDL-cholesterol because of a reduction in the receptor-mediated component of LDL catabolism. In type III hyperlipoproteinaemia, the presence of an abnormal apo E isoform (apo E2) in remnant particles leads to their accumulation in plasma, through nonrecognition by remnant receptors and a consequent reduced rate of hepatic uptake. In contrast, there is no primary catabolic defect in FCH, in which increased levels of very low density lipoprotein (VLDL) and LDL are largely the result of increased synthesis.
脂质在血浆中以脂蛋白的形式运输，一种或多种脂蛋白类别的增加是所有类型高脂血症的基础。对脂蛋白代谢的生理影响因素包括年龄、性别、体重、饮食和运动。病理影响因素包括遗传异常、内分泌功能障碍、肾功能损害和医源性影响。三种易患动脉粥样硬化的遗传性高脂血症分别是家族性高胆固醇血症（FH）、Ⅲ型高脂蛋白血症和家族性混合型高脂血症（FCH），每种都有其独特的代谢缺陷。在FH中，低密度脂蛋白（LDL）受体缺乏导致血浆中LDL胆固醇积聚，原因是LDL分解代谢的受体介导成分减少。在Ⅲ型高脂蛋白血症中，残粒颗粒中异常载脂蛋白E异构体（apo E2）的存在导致其在血浆中积聚，这是由于残粒受体无法识别，从而导致肝脏摄取率降低。相比之下，FCH没有原发性分解代谢缺陷，其中极低密度脂蛋白（VLDL）和LDL水平升高主要是合成增加的结果。
