Lipoproteins and Lipolytic Plasma Enzymes in a Case of Tangier Disease

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Abstract
Post-heparin plasma lipoprotein lipase and a triglyceride lipase of hepatic origin were partially purified in a new case of Tangier disease. No deficiency in either of these enzymes could be demonstrated after separation of these lipases by affinity chromatography on heparin Sepharose 4 B. Lecithin-cholesterol-acyltransferase activity in the patient and her parents was found to be normal. Lipoprotein fractionation revealed an increase in triglyceride content in the low-density lipoprotein subfraction of d: 1.019–1.063. No abnormal beta-migrating lipoproteins in the very-low-density lipoprotein fraction could be detected. The accumulation of a triglyceride-rich lipoprotein in the low-density lipoprotein class of Sf 0–12 in this case of Tangier disease may represent one particular form of a remnant resulting from very-low-density lipoprotein catabolism though no specific enzyme defect could be demonstrated. (N Engl J Med 291:548–552, 1974)