Lecithin: cholesterol acyltransferase (LCAT) deficiency and risk of vascular disease: 25 year follow-up
Lecithin: cholesterol acyltransferase (LCAT) deficiency and risk of vascular disease: 25 year follow-up
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DOI：
10.1016/j.atherosclerosis.2004.07.018
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发表时间：
2004-12-01
期刊：
影响因子：
5.3
通讯作者：
Frohlich, JJ
中科院分区：
文献类型：
--
作者：
Ayyobi, AF;McGladdery, SH;Frohlich, JJ
在最初调查25年后，我们重新评估了一个患有LCAT缺乏症的加拿大大家族的临床和生化状况。在过去的25年里，这个家庭没有发生过血管事件或死亡。纯合子(N=2)和杂合子(N=9)患者均有高度异常的血脂谱，并伴有低密度脂蛋白胆固醇(在纯合子中极端)，而在杂合子中载脂蛋白B水平较高。脂蛋白和肝脂酶活性在纯合子和少数杂合子中较低。在两个纯合子中，颈动脉内膜中层厚度(IMT)超过了预期年龄和性别的75%。然而，IMT异常在杂合子中更为明显，其中4人也有可检测到的斑块。纯合子只有轻微的IMT增加，没有斑块，在过去的4年中没有IMT的变化，内皮功能正常。我们得出结论，在这个家系中，没有观察到明显的血管变化。然而，LCAT缺乏症的杂合性与致动脉粥样硬化性脂蛋白和血管异常有关。(C)2004爱思唯尔爱尔兰有限公司。保留所有权利。
We have reassessed the clinical and biochemical status of a large Canadian kindred with LCAT deficiency 25 years after the initial investigations. There have been no vascular events or death in this family over the 25 years. Both the homozygous (N = 2) and heterozygous (N = 9) patients had highly abnormal lipid profiles with low HDL-C (extreme in the homozygotes); apo B levels were high in the heterozygotes. Lipoprotein and hepatic lipase activities were low in the homozygotes and several heterozygotes. In the two homozygotes the carotid intima media thickness (IMT) was above 75th percentile expected for age and gender. However, the IMT abnormalities were much more pronounced in the heterozygotes, four of whom also had detectable plaques. The homozygotes had only minimal increases in IMT, no plaques, no IMT changes over the last 4 years and normal endothelial function.We conclude that, in this kindred, no significant vascular changes were observed in the homozygotes. However, heterozygocity for LCAT deficiency is associated with both an atherogenic lipid profile and vascular abnormalities. (C) 2004 Elsevier Ireland Ltd. All rights reserved.