A deficiency of cholesteryl ester transfer protein whose serum remnant-like particle-triglyceride significantly increased, but serum remnant-like particle-cholesterol did not after an oral fat load

This version was published on 1 November 2009

Ann Clin Biochem 2009;46:457-463
© 2009 Association for Clinical Biochemistry


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Original Articles

Masumi Ai1,2,
Akira Tanaka2,3,
Kentaro Shimokado2,
Rumiko Ohtani4,
Akihiro Inazu4,
Junji Kobayashi5,
Hiroshi Mabuchi5,
Takamitsu Nakano6 and
Katsuyuki Nakajima6

1 Life Science and Bioethics Research Center;
2 Department of Vascular Medicine and Geriatrics, Tokyo Medical and Dental University;
3 Nutrition Clinic, Kagawa Nutrition University, Tokyo;
4 Department of Laboratory Sciences, School of Health Sciences;
5 Department of Lipidology, Graduate School of Medical Science, Kanazawa University, Kanazawa;
6 Diagnostic Division, Otsuka Pharmaceutical Co., Ltd, Tokyo, Japan

Corresponding author: Masumi Ai, MD PhD, Department of Vascular Medicine and Geriatrics, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan. Email: ai.vasc{at}tmd.ac.jp

Background: 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 normalor reduced serum TG with elevated HDL-C.

Methods: The case subject was a 40-year-old male with a compound heterozygousCETP deficiency. Two heterozygous CETP deficient cases and 10normal volunteers were also recruited as controls. They underwentan oral fat tolerance test (OFTT) and their blood was takenat fasting and during the OFTT to be used for laboratory tests.

Results: The case subject had apolipoprotein E (apo-E) phenotype 4/2with fatty liver but without any cardiovascular disease. Hisserum TG, HDL-C, apo-AI and apo-B48 levels were significantlyhigher, but the low-density lipoprotein cholesterol level waslower than controls. Although post-heparin plasma lipoproteinlipase and hepatic lipase (both mass and activity) were nearlynormal, the serum level of angiopoietin-like-protein-3 was extremelyelevated. 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.

Conclusions: The case subject was different from the common CETP deficientcases reported previously. Also, the results indicated thatthe metabolic pathways of RLP-C and RLP-TG formation in thepostprandial state are controlled independently in CETP deficientcases. CETP deficiency itself may not be atherogenic, whileone with elevated RLPs may be atherogenic. These cases may haveraised the controversy of whether CETP deficiency is atherogenicor not.

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