Brunzell J D, Albers J J, Chait A, Grundy S M, Groszek E, McDonald G B
J Lipid Res. 1983 Feb;24(2):147-55.
Plasma lipoprotein concentration, composition, and size were evaluated in two common familial forms of hypertriglyceridemia and compared with those in normal subjects. The very low density lipoproteins (VLDL) were triglyceride-enriched in familial hypertriglyceridemia (triglyceride/apoprotein B ratio: 25.7 +/- 8.9) as compared to normal (9.6 +/- 12.2, P < 0.001) or familial combined hyperlipidemia (9.7 +/- 3.3, P < 0.001). The diameter of VLDL was larger in familial hypertriglyceridemia (3.27 +/- 0.28 pm) than in familial combined hyperlipidemia (2.87 +/- 0.16 pm, P < 0.02). Although in familial hypertriglyceridemia VLDL tended to be larger, and in familial combined hyperlipidemia VLDL tended to be smaller than normal (3.08 +/- 0.48 pm), neither of these differences were significant. While VLDL was normally distributed in the control population, the size was skewed to larger particles in familial hypertriglyceridemia with fewer small particles (P < 0.05) and skewed to smaller particles in familial combined hyperlipidemia with fewer large particles (P < 0.05). VLDL was reciprocally related to low density lipoproteins (LDL) in familial combined hyperlipidemia (r = -0.80 to -0.87) suggesting that the concentrations of these individual lipoprotein groups were somehow interrelated. There was no significant relationship between these two lipoprotein classes in familial hypertriglyceridemia or in normals. In familial combined hyperlipidemia, the apoprotein A-I/A-II ratio was below normal (P < 0.01) suggestive of low HDL(2) levels. This change in apoprotein composition was independent of VLDL or LDL concentration. In familial hypertriglyceridemia, high density lipoprotein (HDL) cholesterol was reduced (33% below mean normal) and HDL triglyceride was increased (by 46%), while the concentration of apoA-I and apoA-II was normal. VLDL triglyceride was inversely related to HDL cholesterol in familial hypertriglyceridemia (r = -0.74, P < 0.005), but not in familial combined hyperlipidemia. The large, triglyceride-enriched VLDL observed in familial hypertriglyceridemia is compatible with the reported increase in VLDL triglyceride synthesis seen in this disorder. The increase in VLDL apoprotein B synthesis previously reported in familial combined hyperlipidemia was associated with VLDL of normal composition. The changes in HDL cholesterol in these two disorders might reflect exchange of triglyceride between VLDL and HDL or could be related to transfer of surface components during the catabolism of VLDL. The reciprocal relationship between various components of VLDL and LDL seen in familial combined hyperlipidemia, but not in familial hypertriglyceridemia or in normal subjects, might provide some insight into the pathological abnormalities in these disorders. The differences between these two common familial forms of hypertriglyceridemia provide further support that they are distinct entities.-Brunzell, J. D., J. J. Albers, A. Chait, S. M. Grundy, E. Groszek, and G. B. McDonald. Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia.
对两种常见的家族性高甘油三酯血症患者的血浆脂蛋白浓度、组成和大小进行了评估，并与正常受试者进行了比较。与正常受试者（甘油三酯/载脂蛋白B比值：9.6±12.2）或家族性混合性高脂血症患者（9.7±3.3）相比，家族性高甘油三酯血症患者的极低密度脂蛋白（VLDL）富含甘油三酯（甘油三酯/载脂蛋白B比值：25.7±8.9，P<0.001）。家族性高甘油三酯血症患者的VLDL直径（3.27±0.28 pm）大于家族性混合性高脂血症患者（2.87±0.16 pm，P<0.02）。虽然家族性高甘油三酯血症患者的VLDL往往较大，家族性混合性高脂血症患者的VLDL往往较正常受试者（3.08±0.48 pm）小，但这些差异均无统计学意义。在对照组人群中，VLDL呈正态分布，而在家族性高甘油三酯血症患者中，其大小偏向较大颗粒，小颗粒较少（P<0.05）；在家族性混合性高脂血症患者中，其大小偏向较小颗粒，大颗粒较少（P<0.05）。在家族性混合性高脂血症中，VLDL与低密度脂蛋白（LDL）呈负相关（r=-0.80至-0.87），提示这些单个脂蛋白组的浓度在某种程度上相互关联。在家族性高甘油三酯血症患者或正常受试者中，这两种脂蛋白类别之间无显著相关性。在家族性混合性高脂血症中，载脂蛋白A-I/A-II比值低于正常水平（P<0.01），提示高密度脂蛋白（HDL）2水平较低。载脂蛋白组成的这种变化与VLDL或LDL浓度无关。在家族性高甘油三酯血症中，高密度脂蛋白（HDL）胆固醇降低（比正常均值低33%），HDL甘油三酯升高（升高46%），而载脂蛋白A-I和载脂蛋白A-II的浓度正常。在家族性高甘油三酯血症中，VLDL甘油三酯与HDL胆固醇呈负相关（r=-0.74，P<0.005），但在家族性混合性高脂血症中无此相关性。在家族性高甘油三酯血症中观察到的富含甘油三酯的大VLDL与该疾病中报道的VLDL甘油三酯合成增加相一致。先前报道的家族性混合性高脂血症中VLDL载脂蛋白B合成增加与正常组成的VLDL有关。这两种疾病中HDL胆固醇的变化可能反映了VLDL与HDL之间甘油三酯的交换，或者可能与VLDL分解代谢过程中表面成分的转移有关。在家族性混合性高脂血症中观察到的VLDL和LDL各成分之间的负相关关系，而在家族性高甘油三酯血症患者或正常受试者中未观察到，这可能为深入了解这些疾病的病理异常提供一些线索。这两种常见的家族性高甘油三酯血症形式之间的差异进一步支持它们是不同的实体。-布伦泽尔，J.D.，J.J.阿尔伯斯，A.查伊特，S.M.格鲁迪，E.格罗泽克，和G.B.麦克唐纳。家族性混合性高脂血症和单基因家族性高甘油三酯血症中的血浆脂蛋白。
