Fellin R, Baggio G, Poli A, Augustin J, Baiocchi M R, Baldo G, Sinigaglia M, Greten H, Crepaldi G
Atherosclerosis. 1983 Oct;49(1):55-68. doi: 10.1016/0021-9150(83)90007-2.
Plasma lipids, lipoproteins, tissue lipoprotein lipase (LPL) and hepatic lipase (H-TGL) were studied in 7 patients with familial hyperchylomicronemia from four different families. Their first-degree relative were also studied. The patients were heterogeneous for the genetic defect; LPL activity was absent in five patients (LPL deficiency) but normal in two. However, these two did not have apo C-II, the physiological activator of LPL (C-II deficiency). There were no significant differences in the clinical picture between patients with LPL deficiency and C-II deficiency. In both mutants, marked hypertriglyceridemia was due to an accumulation of lipoproteins of density less than 1.006 g/ml. The LDL fraction was very reduced and abnormal in composition, presenting a CH/TG ratio of 0.5. The plasma apolipoprotein B (apo B) level was low (67 +/- 5.5 mg/dl) and was transported mainly in the VLDL fraction (26 +/- 3.2 mg/dl) rather than in the LDL fraction (15 +/- 1.4 mg/dl). Very low levels of cholesterol and apolipoprotein A-I in HDL subfractions HDL2 and HDL3 were also recorded. Only 3 out of the 24 first-degree relatives of patients with LPL deficiency showed even a small increase in plasma triglycerides, but 15 had low or low to normal LPL values. H-TGL levels were normal in all subjects. The 4 first-degree relatives of C-II deficiency patients showed normal levels of plasma lipids. LPL and H-TGL, and 2 children of 1 patient showed normal distribution of apo C peptides in their VLDL. A block in chylomicron catabolism, due to the absence of LPL or apo C-II, may lead to a massive accumulation of lipoproteins with a density less than 1.006 g/ml, and a drastic reduction in the LDL and HDL fractions. Low LPL values in the first-degree relatives of LPL deficiency patients might represent a biochemical marker for healthy carriers of LPL deficiency.
对来自四个不同家族的7例家族性高乳糜微粒血症患者的血浆脂质、脂蛋白、组织脂蛋白脂肪酶（LPL）和肝脂肪酶（H-TGL）进行了研究。对他们的一级亲属也进行了研究。这些患者的基因缺陷具有异质性；5例患者LPL活性缺乏（LPL缺乏症），2例患者LPL活性正常。然而，这2例患者没有载脂蛋白C-II，即LPL的生理性激活剂（C-II缺乏症）。LPL缺乏症患者和C-II缺乏症患者的临床表现无显著差异。在这两种突变体中，明显的高甘油三酯血症是由于密度小于1.006 g/ml的脂蛋白蓄积所致。低密度脂蛋白（LDL）部分非常减少且组成异常，胆固醇/甘油三酯（CH/TG）比值为0.5。血浆载脂蛋白B（apo B）水平较低（67±5.5 mg/dl），主要在极低密度脂蛋白（VLDL）部分运输（26±3.2 mg/dl），而非在LDL部分（15±1.4 mg/dl）。高密度脂蛋白（HDL）亚组分HDL2和HDL3中的胆固醇和载脂蛋白A-I水平也非常低。LPL缺乏症患者的24名一级亲属中只有3例血浆甘油三酯有轻微升高，但15例LPL值低或低至正常。所有受试者的H-TGL水平均正常。C-II缺乏症患者的4名一级亲属的血浆脂质、LPL和H-TGL水平正常，1例患者的2名子女的VLDL中载脂蛋白C肽分布正常。由于缺乏LPL或载脂蛋白C-II导致乳糜微粒分解代谢受阻，可能会导致密度小于1.006 g/ml的脂蛋白大量蓄积，以及LDL和HDL部分急剧减少。LPL缺乏症患者一级亲属的低LPL值可能代表LPL缺乏症健康携带者的生化标志物。
