Genetics
Case report finds significant coronary stenosis in a woman with CETP deficiency and HDL-C of 209 mg/dL (Circ J 2005)
Original title: Effort angina in a middle-aged woman with abnormally high levels of serum high-density lipoprotein cholesterol: a case of cholesteryl-ester transfer protein deficiency
A 54-year-old woman presented with exercise-induced chest pain, ischemic ECG changes, coronary artery calcification, and a significant stenotic lesion of the right coronary artery on angiography, despite having no classical coronary risk factors and a very high HDL cholesterol concentration of 209 mg/dL. Serum CETP concentration was below the measurable minimum, and genetic testing identified a typical intron 14 splicing defect mutation causing CETP deficiency; her lipid profile improved after 3 months of probucol treatment. The authors conclude that very high HDL-C combined with CETP deficiency can nonetheless indicate increased risk of premature coronary artery disease, and that lipid-lowering drugs like probucol can improve the lipid profile in such patients.
Original abstract
A 54-year-old female was admitted to hospital complaining of oppressive anterior chest pain during exercise. Treadmill exercise ECG testing showed significant ischemic ECG changes, and electron-beam computed tomography demonstrated patchy calcifications in the coronary artery. Coronary angiography revealed a significant stenotic lesion of the right coronary artery. On routine investigations, no classical coronary risk factors were found, although a very high concentration (209 mg/dl) of high-density lipoprotein cholesterol (HDL-C) was detected. The serum concentration of cholesteryl-ester transfer protein (CETP), which plays a central role in the reverse cholesterol transport system, was measured and found to be less than the measurable minimum. The patient showed one of the typical genetic CETP mutations (intone 14 splicing defect), and her lipid profile was improved by administration of probucol for 3 months. A very high concentration of HDL-C with a defect of CETP activity may be a specific biochemical indicator pointing to an increased risk of premature coronary artery disease, and the lipid profile can be improved by use of lipid-lowering drugs.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 18 August 2026. Methods.