Berger G M, Bonnici F
S Afr Med J. 1977 Apr 30;51(18):623-8.
We report on the clinical and biochemical findings of 8 patients with familial hyperchylomicronaemia (type I hyperlipoproteinaemia) from 4 separate kindreds. The diagnosis is generally easily established by the presence, in standing plasma, of a creamy chylomicron layer over a clear infranatant and by the large predominance of triglycerides over cholesterol in the plasma. Additional aids are the presence of chylomicrons on lipoprotein electrophoresis and the markedly reduced liberation of lipolytic activity into the plasma of these patients, after the administration of heparin. Difficulties in diagnosis may arise in patients on reduced fat diets, resulting in an increase of very low density lipoproteins and a type IV or V phenotype. The precise nature of the primary genetic defect remains to be established but the disorder appears to be aetiologically distinct from type IV or V hyperlipoproteinaemia. Reduction of chylomicron, and hence of triglyceride values in the plasma, is wholly dietary.
我们报告了来自4个不同家族的8例家族性高乳糜微粒血症（I型高脂蛋白血症）患者的临床和生化检查结果。通过静置血浆中出现的一层乳状乳糜微粒层覆盖在清亮的下层上清液之上，以及血浆中甘油三酯相对于胆固醇的大量优势，通常很容易做出诊断。其他辅助诊断方法包括脂蛋白电泳显示乳糜微粒的存在，以及给予肝素后这些患者血浆中脂解活性的显著降低。低脂饮食的患者可能会出现诊断困难，这会导致极低密度脂蛋白增加以及IV型或V型表型。原发性遗传缺陷的确切性质仍有待确定，但该疾病在病因上似乎与IV型或V型高脂蛋白血症不同。降低血浆中乳糜微粒以及甘油三酯的值完全依赖饮食调整。
