Berger G M, Van der Westhuyzen J H, Huskisson J, Bonnici F, Henderson H E
S Afr Med J. 1982 Feb 20;61(8):266-72.
Patients with type 1 hyperlipoproteinaemia present with relatively normal plasma levels of very-low-density lipoprotein (VLDL) together with marked hyperchylomicronaemia. Since the aetiological basis for the type 1 phenotype is a severe reduction in peripheral lipoprotein lipase (LPL) activity, the discrepancy between the two triglyceride-rich lipoprotein fractions is paradoxical. In order to account for these observations we have previously proposed (G.M.B) that the hepatic secretion of lipoproteins in these patients is characterized by the production of chylomicron-like particles rather than VLDL. The implications of this hypothesis were examined in 3 patients with type 1 hyperlipoproteinaemia. A high-carbohydrate diet led to the enhancement of hyperchylomicronaemia in 2 of the 3 subjects. The severity of the defect in peripheral LPL activity correlated with the tendency to hyperchylomicronaemia, and in vitro assay suggested that hepatic lipase was capable of hydrolysing chylomicron triglyceride when present at the high concentrations characteristic of type 1 hyperlipoproteinaemia. These results were compatible with the above hypothesis implicating the liver as a partial determinant of the type 1 phenotype.
Ⅰ型高脂蛋白血症患者的极低密度脂蛋白（VLDL）血浆水平相对正常，但伴有明显的高乳糜微粒血症。由于Ⅰ型表型的病因基础是外周脂蛋白脂肪酶（LPL）活性严重降低，这两种富含甘油三酯的脂蛋白组分之间的差异是自相矛盾的。为了解释这些观察结果，我们之前（G.M.B.）提出，这些患者肝脏分泌脂蛋白的特征是产生乳糜微粒样颗粒而非VLDL。在3例Ⅰ型高脂蛋白血症患者中对这一假说的意义进行了研究。高碳水化合物饮食导致3名受试者中的2名出现高乳糜微粒血症加重。外周LPL活性缺陷的严重程度与高乳糜微粒血症倾向相关，体外试验表明，当存在Ⅰ型高脂蛋白血症特征性的高浓度时，肝脂肪酶能够水解乳糜微粒甘油三酯。这些结果与上述认为肝脏是Ⅰ型表型部分决定因素的假说相符。
