Abnormalities of high density lipoproteins in homozygous familial hypercholesterolemia.
Abnormalities of high density lipoproteins in homozygous familial hypercholesterolemia.
复制标题
纯合子家族性高胆固醇血症中高密度脂蛋白的异常。
DOI：
10.1161/01.atv.4.5.472
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发表时间：
1984
期刊：
影响因子：
--
通讯作者：
Seftel,HC
中科院分区：
文献类型：
--
作者：
Goldberg,RB;Fless,GM;Baker,SG;Joffe,BI;Getz,GS;Scanu,AM;Seftel,HC
低高密度脂蛋白水平可能增加家族性高胆固醇血症(FH)患者闭塞性动脉粥样硬化的风险，这一发现在这些患者中的频率和严重性得到了支持，尤其是纯合子患者。为了更详细地研究这种异常，我们测量了9例FH纯合子的高密度脂蛋白、血脂和载脂蛋白的值。与他们未受影响的亲属相比，他们的高密度脂蛋白胆固醇和载脂蛋白A-I和A-II水平显著降低。在杂合子亲属中发现的值介于纯合子和对照组之间。密度梯度超速离心法检测纯合子血清或分离的高密度脂蛋白胆固醇(HDL2)很少或不显示HDL2，纯合子高密度脂蛋白(HDL2)的峰值密度(d=1.15g/ml)高于正常。杂合子的异常较轻。FH中高密度脂蛋白的降低似乎与低密度脂蛋白水平升高有关，尽管其病理生理机制尚不清楚。这些发现增加了高密度脂蛋白异常有助于家族性高胆固醇血症中动脉粥样硬化的无情病程的概念。
The possibility that low high density lipoprotein (HDL) levels may add to the risk of occlusive atherosclerosis in familial hypercholesterolemia (FH) is supported by the frequency and severity of this finding in these patients, particularly homozygotes. To investigate this abnormality in greater detail, we measured HDL lipid and apoprotein values in nine homozygotes with FH. Compared to their unaffected relatives, they had markedly reduced HDL cholesterol and apo A-I and A-II levels. The values found in heterozygote relatives were between those of homozygotes and those of controls. Density gradient ultracentrifugation of serum or isolated HDL from homozygotes demonstrated little or no HDL2; there was also a shift of homozygotes' HDL to an above normal peak density (d = 1.15 g/ml). Heterozygotes had milder abnormalities. The reduced HDL in FH seems to be related to elevated low density lipoprotein levels although the pathophysiology is unknown. These findings add weight to the concept that HDL abnormalities contribute to the relentless course of atherosclerosis in familial hypercholesterolemia.