Manzato E, Marin R, Gasparotto A, Baggio G, Fellin R, Crepaldi G
J Lab Clin Med. 1984 Nov;104(5):778-88.
Familial chylomicronemia is a rare genetic disorder attributable to the absence of lipoprotein lipase activity or the absence of apo-CII, i.e., the cofactor for the same enzyme. Plasma lipoproteins were analyzed by zonal ultracentrifugation under rate flotation conditions in four patients with lipoprotein lipase deficiency and two patients with apo-CII deficiency. Lipoproteins of density less than 1.006 gm/ml, and particularly lipoproteins with Sf greater than 100, were present in very high concentrations. Low levels of density greater than 1.006 gm/ml lipoproteins were observed. This fraction was composed of some different and discrete lipoprotein populations: intermediate-density lipoproteins (in three of six patients, density = 1.006 to 1.019 gm/ml); low-density lipoprotein LDL2 (in all patients, density = 1.019 to 1.045 gm/ml); low-density lipoprotein LDL3 (in all patients, density = 1.045 to 1.063 gm/ml); high-density lipoprotein HDL2 (in four of six patients); and high-density lipoproteins HDL3 (in all patients). LDL3 was never observed in normal participants by means of zonal ultracentrifugation; this subclass of low-density lipoproteins seems to correspond to LDL particles of very low Sf (2 to 5) previously identified by analytical ultracentrifugation in patients with severe hypertriglyceridemia. LDL3 was isolated by means of zonal ultracentrifugation as a single and discrete peak in all patients. Lipoproteins of density greater than 1.006 gm/ml were rich in triglycerides and poor in cholesterol in comparison with normal lipoproteins. The heterogeneity of low-density lipoproteins (particularly the appearance of LDL3), low levels of total high-density lipoproteins, and lower HDL3 flotation rate than normal are typical aspects of serum lipoproteins in these patients. No significant differences in the lipoprotein profiles of the patients with lipoprotein lipase deficiency in comparison with patients with apo-CII deficiency were found. In both groups of patients, the plasma lipoproteins profile and the altered lipoprotein composition could be related to the impaired catabolism of triglyceride-rich lipoproteins caused by the absence of lipoprotein lipase activity.
家族性乳糜微粒血症是一种罕见的遗传性疾病，归因于脂蛋白脂肪酶活性缺失或载脂蛋白CII（即该酶的辅因子）缺失。在速率漂浮条件下，通过区带超速离心法对4例脂蛋白脂肪酶缺乏患者和2例载脂蛋白CII缺乏患者的血浆脂蛋白进行了分析。密度小于1.006克/毫升的脂蛋白，尤其是Sf大于100的脂蛋白，浓度非常高。观察到密度大于1.006克/毫升的脂蛋白水平较低。该部分由一些不同且离散的脂蛋白群体组成：中间密度脂蛋白（6例患者中的3例，密度 = 1.006至1.019克/毫升）；低密度脂蛋白LDL2（所有患者，密度 = 1.019至1.045克/毫升）；低密度脂蛋白LDL3（所有患者，密度 = 1.045至1.063克/毫升）；高密度脂蛋白HDL2（6例患者中的4例）；以及高密度脂蛋白HDL3（所有患者）。通过区带超速离心法在正常受试者中从未观察到LDL3；这种低密度脂蛋白亚类似乎对应于先前在严重高甘油三酯血症患者中通过分析超速离心法鉴定的极低Sf（2至5）的LDL颗粒。在所有患者中，通过区带超速离心法将LDL3分离为单一且离散的峰。与正常脂蛋白相比，密度大于1.006克/毫升的脂蛋白富含甘油三酯且胆固醇含量低。低密度脂蛋白的异质性（特别是LDL3的出现）、总高密度脂蛋白水平低以及HDL3漂浮率低于正常是这些患者血清脂蛋白的典型特征。脂蛋白脂肪酶缺乏患者与载脂蛋白CII缺乏患者的脂蛋白谱没有显著差异。在两组患者中，血浆脂蛋白谱和脂蛋白组成改变可能与脂蛋白脂肪酶活性缺失导致的富含甘油三酯脂蛋白分解代谢受损有关。
