Life Science and Bioethics Research Center, Tokyo, Japan.
Ann Clin Biochem. 2009 Nov;46(Pt 6):457-63. doi: 10.1258/acb.2009.008249. Epub 2009 Jul 29.
We found a unique cholesteryl ester transfer protein (CETP) deficient case with markedly elevated serum triglyceride (TG) as well as high-density lipoprotein cholesterol (HDL-C) levels. Most of the CETP deficiency cases were reported to have normal or reduced serum TG with elevated HDL-C.
The case subject was a 40-year-old male with a compound heterozygous CETP deficiency. Two heterozygous CETP deficient cases and 10 normal volunteers were also recruited as controls. They underwent an oral fat tolerance test (OFTT) and their blood was taken at fasting and during the OFTT to be used for laboratory tests.
The case subject had apolipoprotein E (apo-E) phenotype 4/2 with fatty liver but without any cardiovascular disease. His serum TG, HDL-C, apo-AI and apo-B48 levels were significantly higher, but the low-density lipoprotein cholesterol level was lower than controls. Although post-heparin plasma lipoprotein lipase and hepatic lipase (both mass and activity) were nearly normal, the serum level of angiopoietin-like-protein-3 was extremely elevated. While his serum remnant-like particles-TG (RLP-TG) and total TG levels significantly increased after a fat load, the RLP-cholesterol (RLP-C) level did not increase during OFTT.
The case subject was different from the common CETP deficient cases reported previously. Also, the results indicated that the metabolic pathways of RLP-C and RLP-TG formation in the postprandial state are controlled independently in CETP deficient cases. CETP deficiency itself may not be atherogenic, while one with elevated RLPs may be atherogenic. These cases may have raised the controversy of whether CETP deficiency is atherogenic or not.
我们发现了一个独特的胆固醇酯转移蛋白（CETP）缺乏病例，其血清甘油三酯（TG）明显升高，同时高密度脂蛋白胆固醇（HDL-C）水平升高。大多数 CETP 缺乏病例报告显示血清 TG 正常或降低，而 HDL-C 升高。
该病例为 40 岁男性，复合杂合性 CETP 缺乏。还招募了两名杂合性 CETP 缺乏病例和 10 名正常志愿者作为对照。他们接受了口服脂肪耐量试验（OFTT），并在空腹和 OFTT 期间采集血液用于实验室检查。
该病例患者载脂蛋白 E（apo-E）表型为 4/2，伴有脂肪肝，但无任何心血管疾病。他的血清 TG、HDL-C、apo-AI 和 apo-B48 水平显著升高，而低密度脂蛋白胆固醇水平低于对照组。尽管肝素后血浆脂蛋白脂酶和肝脂酶（质量和活性）几乎正常，但血清血管生成素样蛋白-3 水平极高。虽然他的血清残粒样颗粒-TG（RLP-TG）和总 TG 水平在脂肪负荷后显著增加，但 RLP-C 水平在 OFTT 期间并未增加。
该病例与以前报道的常见 CETP 缺乏病例不同。此外，结果表明 CETP 缺乏病例在餐后状态下 RLP-C 和 RLP-TG 形成的代谢途径是独立控制的。CETP 缺乏本身可能不是动脉粥样硬化的致病因素，而升高的 RLP 可能是动脉粥样硬化的致病因素。这些病例可能引发了关于 CETP 缺乏是否具有致动脉粥样硬化作用的争议。
