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家族性高甘油三酯血症中的血浆脂蛋白、载脂蛋白及甘油三酯代谢

Plasma lipoproteins, apolipoproteins, and triglyceride metabolism in familial hypertriglyceridemia.

作者信息

Stalenhoef A F, Demacker P N, Lutterman J A, van 't Laar A

出版信息

Arteriosclerosis. 1986 Jul-Aug;6(4):387-94. doi: 10.1161/01.atv.6.4.387.

DOI:10.1161/01.atv.6.4.387
PMID:3729796
Abstract

Several parameters of lipoprotein metabolism were examined in 38 men with primary hypertriglyceridemia (phenotype IV). Family investigation showed that 17 men had familial combined hyperlipidemia (FCH), seven had familial hypertriglyceridemia (FHT), and 14 had unclassified hypertriglyceridemia (UNC). In all three groups, plasma high density lipoprotein (HDL) cholesterol and the concentrations of apolipoprotein A-I and A-II were decreased, and apolipoprotein B was increased, each to the same extent. These results are compatible with an increased risk of cardiovascular disease in both FCH and FHT patients. The mean concentration of LDL cholesterol and the ratio of LDL to HDL cholesterol were significantly higher in FCH subjects, which could explain their increased risk. Postheparin lipoprotein lipase and hepatic lipase were the same in both groups. Determination of apolipoprotein C composition, which may modulate lipoprotein lipase activity, did not reveal any abnormalities in the different groups. In both FCH and FHT, the mean turnover rate of plasma triglycerides was almost twice normal, indicating that overproduction of plasma triglyceride plays an important role in both disorders. However, there was an overlap with normal controls, indicating impaired triglyceride removal in some subjects. The underlying mechanism of hypertriglyceridemia in FCH and FHT therefore seems to be heterogeneous.

摘要

对38名原发性高甘油三酯血症(IV型)男性患者的脂蛋白代谢的几个参数进行了检测。家族调查显示,17名男性患有家族性混合性高脂血症(FCH),7名患有家族性高甘油三酯血症(FHT),14名患有未分类的高甘油三酯血症(UNC)。在所有三组中,血浆高密度脂蛋白(HDL)胆固醇以及载脂蛋白A-I和A-II的浓度均降低,而载脂蛋白B升高,且升高或降低的程度相同。这些结果与FCH和FHT患者心血管疾病风险增加相符。FCH患者的低密度脂蛋白(LDL)胆固醇平均浓度以及LDL与HDL胆固醇的比值显著更高,这可以解释其风险增加的原因。两组的肝素后脂蛋白脂肪酶和肝脂肪酶相同。对可能调节脂蛋白脂肪酶活性的载脂蛋白C组成的测定未发现不同组有任何异常。在FCH和FHT中,血浆甘油三酯的平均周转率几乎是正常的两倍,表明血浆甘油三酯的过度产生在这两种疾病中都起重要作用。然而,与正常对照组存在重叠,表明一些受试者的甘油三酯清除受损。因此,FCH和FHT中高甘油三酯血症的潜在机制似乎是异质性的。

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引用本文的文献

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2
Inherited susceptibility determines the distribution of dense low-density lipoprotein subfraction profiles in familial combined hyperlipidemia.遗传易感性决定了家族性混合性高脂血症中致密低密度脂蛋白亚组分谱的分布。
Am J Hum Genet. 1996 Apr;58(4):812-22.
3
Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation.
一名先证者纯合错义突变的扩展家系中杂合脂蛋白脂肪酶缺乏的表型表达。
J Clin Invest. 1990 Sep;86(3):735-50. doi: 10.1172/JCI114770.