Bile lipid composition and haemostatic variables in a case of high density lipoprotein deficiency (Tangier disease)

Abstract. A 62‐year‐old man with clinical and biochemical findings consistent with homozygous Tangier disease is presented. Widespread atherosclerosis was present. Bile lipid analysis showed a low molar percentage of cholesterol with a low saturation index. The data suggest that high density lipoprotein cholesterol may act as a preferential precursor of bilary cholesterol. Coagulation and platelet studies indicated that the patient's platelets were hyper‐responsive to aggregating agents and produced an increased amount of thromboxane B2. A platelet storage pool deficiency was also found.

[1]  H. Brewer,et al.  Tangier disease : A structural defect in apolipoprotein A-I ( apoA-ITangir ) ( apolipoprotein A-1 H / dyslipoproteinemia / atherosclerosis / high density lipoproteins / cholesterol ) , 2003 .

[2]  R. Lees,et al.  Abnormal apoprotein A-I isoprotein composition in patients with Tangier disease. , 1982, The Journal of biological chemistry.

[3]  P. Mannucci,et al.  Biochemical and Metabolic Aspects of Platelet Dysfunction in Chronic Myeloproliferative Disorders , 1982, Thrombosis and Haemostasis.

[4]  D. Macfarlane,et al.  A relation between high-density-lipoprotein cholesterol and bile cholesterol saturation. , 1981, British medical journal.

[5]  G. Noseda,et al.  Familial hypo-alpha-lipoproteinemia. , 1981, Clinica chimica acta; international journal of clinical chemistry.

[6]  A. Hofmann,et al.  Enzymatic measurement of choline-containing phospholipids in bile. , 1981, Journal of lipid research.

[7]  P. Mannucci,et al.  Increased Fibrinopeptide A after Prothrombin Complex Concentrates , 1980, Thrombosis and Haemostasis.

[8]  F. Nakayama,et al.  Quantitative determination of bile acids in bile with reversed-phase high-performance liquid chromatography. , 1980, Journal of chromatography.

[9]  H. Brewer,et al.  Coronary heart disease prevalence and other clinical features in familial high-density lipoprotein deficiency (Tangier disease). , 1980, Annals of internal medicine.

[10]  R. Lees,et al.  Platelet function and platelet lipid composition in the dyslipoproteinemias. , 1980, Journal of lipid research.

[11]  J. White,et al.  Effect of cholesterol on production of thromboxane b2 by platelets in vitro. , 1980, The New England journal of medicine.

[12]  J. Cazenave,et al.  Effect of inhibitors of the arachidonate pathway on the release of granule contents from rabbit platelets adherent to collagen. , 1980, Laboratory investigation; a journal of technical methods and pathology.

[13]  P. Walinsky,et al.  Detection of thromboxane B2 in peripheral blood of patients with Prinzmetal's angina. , 1979, Prostaglandins and medicine.

[14]  J. Albers,et al.  Effect of human plasma apolipoproteins on the activity of purified lecithin: cholesterol acyltransferase. , 1979, Artery.

[15]  M. Carey.  Critical tables for calculating the cholesterol saturation of native bile. , 1978, Journal of lipid research.

[16]  R. Nisman,et al.  Evidence for high-density lipoprotein-free cholesterol as the primary precursor for bile-acid synthesis in man. , 1978, Surgery.

[17]  D. H. Gregory,et al.  Preferential utilization of free cholesterol from high-density lipoproteins for biliary cholesterol secretion in man. , 1978, Science.

[18]  J. Albers.  Effect of human plasma apolipoproteins on the activity of purified lecithin:cholesterol acyltransferase. , 1978, Scandinavian journal of clinical and laboratory investigation. Supplementum.

[19]  S B Hulley,et al.  HDL Cholesterol and Other Lipids in Coronary Heart Disease: The Cooperative Lipoprotein Phenotyping Study , 1977, Circulation.

[20]  M. Lopes-Virella,et al.  Cholesterol determination in high-density lipoproteins separated by three different methods. , 1977, Clinical chemistry.

[21]  G. Assmann,et al.  The lipoprotein abnormality in Tangier disease: quantitation of A apoproteins. , 1977, The Journal of clinical investigation.

[22]  J. Mustard,et al.  Sodium arachidonate can induce platelet shape change and aggregation which are independent of the release reaction. , 1976, Science.

[23]  J. C. Vuletin,et al.  A Light and Electron Microscopic Study , 1976 .

[24]  L. Barbara,et al.  Enzymatic determination of cholesterol in bile. , 1975, Clinica chimica acta; international journal of clinical chemistry.

[25]  R L Jackson,et al.  Effect of the human plasma apolipoproteins and phosphatidylcholine acyl donor on the activity of lecithin: cholesterol acyltransferase. , 1975, Biochemistry.

[26]  G. Miller,et al.  PLASMA-HIGH-DENSITY-LIPOPROTEIN CONCENTRATION AND DEVELOPMENT OF ISCHÆMIC HEART-DISEASE , 1975, The Lancet.

[27]  V. Ferrans,et al.  The pathology of Tangier disease. A light and electron microscopic study. , 1975, The American journal of pathology.

[28]  H. Greten,et al.  Lipoproteins and lipolytic plasma enzymes in a case of tangier disease. , 1974, The New England journal of medicine.

[29]  G. Kostner.  Studies on the cofactor requirements for lecithin:cholesterol acyltransferase. , 1974, Scandinavian journal of clinical and laboratory investigation. Supplementum.

[30]  G. Ehrlich,et al.  The Metabolic Basis Of Inherited Disease. , 1973 .

[31]  P. Nestel,et al.  Tangier disease. Report of a case and studies of lipid metabolism. , 1972, The New England journal of medicine.

[32]  P. Bale,et al.  Pathology of Tangier disease , 1971, Journal of clinical pathology.

[33]  K. Norum,et al.  Determination of lecithin: cholesterol acyltransfer in human blood plasma. , 1971, Scandinavian journal of clinical and laboratory investigation.

[34]  H. Weiss,et al.  Hereditary Defect in the Platelet Release Reaction Caused by a Deficiency in the Storage Pool of Platelet Adenine Nucleotides , 1970, British journal of haematology.

[35]  K. Weber,et al.  The reliability of molecular weight determinations by dodecyl sulfate-polyacrylamide gel electrophoresis. , 1969, The Journal of biological chemistry.

[36]  J. Glomset,et al.  The plasma lecithins:cholesterol acyltransferase reaction. , 1968, Journal of lipid research.

[37]  P. Talalay.  Enzymic analysis of steroid hormones. , 1960, Methods of biochemical analysis.

[38]  R. Havel,et al.  The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum. , 1955, The Journal of clinical investigation.