Clinical presentation, laboratory values, and coronary heart disease risk in marked high-density lipoprotein-deficiency states

Journal of Clinical Lipidology

Volumn 2, Issue 4, 2008, Pages 237-247

  Santos, Raul D ^a   Asztalos, Bela F ^b   Martinez, Lilton R C ^a   Miname, Marcio H ^a   Polisecki, Eliana ^b   Schaefer, Ernst J ^b  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b TUFTS UNIVERSITY   (United States)

Author keywords

Apolipoprotein A I deficiency; ATP binding cassette protein 1 dysfunction; Coronary heart disease; High density lipoprotein deficiency; Lecithin:cholesterol acyltransferase deficiency; Tangier disease

Indexed keywords

ABC TRANSPORTER A1; APOLIPOPROTEIN A1; APOLIPOPROTEIN A4; APOLIPOPROTEIN C3; CHOLESTEROL ACYLTRANSFERASE; CHOLESTEROL ESTER; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; PHOSPHATIDYLCHOLINE;

ANGIOCARDIOGRAPHY; ATHEROSCLEROSIS; CARDIOVASCULAR RISK; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL ESTERIFICATION; CLINICAL FEATURE; COMPUTED TOMOGRAPHIC ANGIOGRAPHY; CORNEA OPACITY; CORONARY ARTERY BYPASS GRAFT; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; DISEASE MARKER; DISEASE SEVERITY; DYSLIPIDEMIA; ENZYME ACTIVITY; GENE LOCUS; GENE MUTATION; GENETIC DISORDER; GENETIC RISK; HETEROZYGOTE; HIGH RISK PATIENT; HISTOPATHOLOGY; HOMOZYGOTE; HUMAN; HYPERTRIGLYCERIDEMIA; ISCHEMIC HEART DISEASE; KIDNEY FAILURE; LABORATORY TEST; LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY; LEFT ANTERIOR DESCENDING CORONARY ARTERY; LIPID ABSORPTION; LIPOPROTEIN BLOOD LEVEL; LIPOPROTEIN DEFICIENCY; LIPOPROTEIN METABOLISM; LIVER CELL; LIVER DISEASE; MACROPHAGE; MALABSORPTION; MUTATIONAL ANALYSIS; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; REFERENCE VALUE; REVIEW; RISK ASSESSMENT; RISK FACTOR; SCHWANN CELL; SPLEEN CELL; SPLENOMEGALY; STANDARDIZATION; TANGIER DISEASE; TONSIL CELL; XANTHOMA;

EID: 48549090621     PISSN: 19332874     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jacl.2008.06.002     Document Type: Review

References (57)

1. Schaefer E.J., Levy R.I., Anderson D.W., Danner R.N., Brewer Jr. H.B., and Blackwelder W.C. Plasma-triglycerides in regulation of HDL-cholesterol levels. Lancet 2 (1978) 391-393
2. Jahn C.E., Schaefer E.J., Taam L., Hoofnagel J., Jones E.A., and Brewer Jr. H.B. Lipoprotein abnormalities in primary biliary cirrhosis: association with hepatic lipase inhibition as well as altered cholesterol esterification. Gastroenterology 89 (1985) 1266-1278
3. Goldberg R.B., and Mendez A.J. Severe acquired (secondary) high-density lipoprotein deficiency. J Clin Lipidol 1 (2007) 41-56
4. Bielicki J.K., and Oda M.N. Apolipoprotein A-I(Milano) and apolipoprotein A-I(Paris) exhibit an antioxidant activity distinct from that of wild-type apolipoprotein A-I. Biochemistry 41 (2002) 2089-2096
5. Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults. Executive summary of the third report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III). JAMA 285 (2001) 2486-2497
6. Genest J.J., McNamara J.R., Salem D.N., and Schaefer E.J. Prevalence of risk factors in men with premature coronary artery disease. Am J Cardiol 67 (1991) 1185-1189
7. Genest J.J., Martin-Munley S., McNamara J.R., et al. Prevalence of familial lipoprotein disorders in patients with premature coronary artery disease. Circulation 85 (1992) 2025-2033
8. Genest Jr. J.J., Bard J.M., Fruchart J.C., Ordovas J.M., and Schaefer E.J. Familial hypoalphalipoproteinemia in premature coronary artery disease. Arterioscler Thromb 13 (1993) 1728-1737
9. Rubins H.B., Robins S.J., Collins D., et al. Gemfibrozil for the secondary prevention of coronary heart disease in men with low levels of high-density lipoprotein cholesterol. N Engl J Med 341 (1999) 410-418
10. Robins S.J., Collins D., Wittes J.T., et al. Relation of gemfibrozil treatment and lipid levels with major coronary events. VA-HIT: a randomized controlled trial. JAMA 285 (2001) 1585-1591
11. Rubins H.B., Robins S.J., Collins D., et al. Diabetes, plasma insulin, and cardiovascular disease. Subgroup analysis from the Department of Veterans Affairs High-Density Lipoprotein Intervention Trial (VA-HIT). Arch Intern Med 162 (2002) 2597-2604
12. Schaefer E.J., Heaton W.H., Wetzel M.G., and Brewer Jr. H.B. Plasma apolipoprotein A-I absence associated with marked reduction of high density lipoproteins and premature coronary artery disease. Arteriosclerosis 2 (1982) 16-26
13. Schaefer E.J. The clinical, biochemical, and genetic features in familial disorders of high density lipoprotein deficiency. Arteriosclerosis 4 (1984) 303-322
14. Engel W.K., Dorman J.D., Levy R.I., and Fredrickson D.S. Neuropathy in Tangier disease. Alpha-lipoprotein deficiency manifesting as familial recurrent neuropathy and intestinal lipid storage. Arch Neurol 17 (1967) 1-9
15. Ferrans V.J., and Fredrickson D.S. The pathology of Tangier disease. A light and electron microscopic study. Am J Pathol 78 (1975) 101-158
16. Assmann G., Herbert P.N., Fredrickson D.S., and Forte T. Isolation and characterization of an abnormal high density lipoprotein in Tangier Disease. J Clin Invest 60 (1977) 242-252
17. Schaefer E.J., Ordovas J.M., Law S., et al. Apolipoprotein A-I and C-III deficiency, variant II. J Lipid Res 26 (1985) 1089-1101
18. Ordovas J.M., Cassidy D.K., Civeira F., Bisgaier C.L., and Schaefer E.J. Familial apolipoprotein A-I, C-III, and A-IV deficiency with marked high density lipoprotein deficiency and premature atherosclerosis due to a deletion of the apolipoprotein A-I, C-III, and A-IV gene complex. J Biol Chem 264 (1989) 16339-16342
19. Norum R.A., Lakier J.B., Goldstein S., et al. Familial deficiency of apolipoproteins A-I and C-III and precocious coronary artery disease. N Engl J Med 306 (1982) 1513-1519
20. Karathanasis S.K., Norum R.A., Zannis V.I., and Breslow J.L. An inherited polymorphism in the human apolipoprotein A-I gene locus related to the development of atherosclerosis. Nature 301 (1983) 718-720
21. Karathanasis S.K., Ferris E., and Haddad E.A. DNA inversion within the apolipoprotein AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis. Proc Natl Acad Sci U S A 84 (1987) 7198-7202
22. Beher W.T., Gabbard A., Norum R.A., and Stradnieks S. Effect of blood high density lipoprotein cholesterol concentration on fecal steroid excretion in humans. Life Sci 32 (1983) 2933-2937
23. Forte T.M., Nichols A.V., Krauss R.M., and Norum R.A. Familial apolipoprotein AI and apolipoprotein CIII deficiency. Subclass distribution, composition, and morphology of lipoproteins in a disorder associated with premature atherosclerosis. J Clin Invest 74 (1984) 1601-1613
24. Ginsberg H.N., Le N.A., Goldberg I.J., et al. Apolipoprotein B metabolism in subjects with deficiency of apolipoproteins CIII and AI. Evidence that apoCIII inhibits catabolism of triglyceride-rich lipoproteins by lipoprotein lipase in vivo. J Clin Invest 78 (1986) 1287-1295
25. Subbaiah P.V., Norum R.A., and Bagdade J.D. Effect of apolipoprotein activators on the specificity lecithin:cholesterol acyltransferase: determination of cholesteryl esters formed in A-I/C-III deficiency. J Lipid Res 32 (1991) 1601-1609
26. Bekaert E.D., Alaupovic P., Knight-Gibson C.S., Laux M.J., Pelachyk J.M., and Norum R.A. Characterization of apoA-I and apoB containing lipoprotein particles in a variant of familial apolipoprotein A-I deficiency with planar xanthomas: the metabolic significance of LP-A-II particles. J Lipid Res 32 (1991) 1587-1599
27. Hiasa Y., Maeda T., and Mori H. Deficiency of apolipoproteins A-I and C-III and severe coronary artery disease. Clin Cardiol 9 (1986) 349-352
28. Matsunaga T., Hiasa Y., Yanagi H., et al. Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene. Proc Natl Acad Sci U S A 88 (1991) 2793-2797
29. Ng D.S., Leiter L.A., Vezina C., Connelly P.W., and Hegele R.A. Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein deficiency in a family with analphalipoproteinemia. J Clin Invest 93 (1994) 223-229
30. Ng D.S., O'Connor P.W., Mortimer C.B., Leiter L.A., Connelly P.W., and Hegele R.A. Case report: retinopathy and neuropathy associated with complete apolipoprotein A-I deficiency. Am J Med Sci 312 (1996) 30-33
31. Santos R.D., Schaefer E.J., Asztalos B.F., et al. Characterization of high density lipoprotein particles in familial apolipoprotein A-I deficiency. J Lipid Res 46 (2008) 349-357
32. Matsunaga A., Sasaki J., Han H., et al. Compound heterozygozity for an apolipoprotein AI gene promoter mutation and a structural nonsense mutation with apolipoprotein deficiency. Arterioscler Thromb Vasc Biol 19 (1999) 348-355
33. Ikewaki K., Matsunaga A., Han H., et al. A novel two nucleotide deletion in the apolipoprotein A-I gene, apoA-I Shinbashi, associated with high density lipoprotein deficiency, corneal opacities, planar xanthomas, and premature coronary artery disease. Atherosclerosis 172 (2004) 39-45
34. Deeb S.S., Cheung M.C., Peng R., et al. A mutation in the apolipoprotein A-I gene. J Biol Chem 266 (1991) 13654-13660
35. Pisciotta L., Miccoli R., Cantafora A., et al. Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency. Atherosclerosis 167 (2003) 335-345
36. Fredrickson D.S., Altrocchi P.H., Avioli L.V., Goodman D.S., and Goodman H.C. Tangier disease. Ann Intern Med 55 (1961) 1016-1031
37. Schaefer E.J., Zech L.A., Schwartz D.S., and Brewer Jr. H.B. Coronary heart disease prevalence and other clinical features in familial high density lipoprotein deficiency (Tangier disease). Ann Intern Med 93 (1980) 261-266
38. Serfaty-Lacrosniere C., Lanzberg A., Civeira F., et al. Homozygous Tangier disease and cardiovascular disease. Atherosclerosis 107 (1994) 85-98
39. Chu F.C., Kuwabara T., Cogan P.G., Schaefer E.J., and Brewer Jr. H.B. Ocular manifestations of familial high density lipoprotein deficiency (Tangier disease). Arch Opthalmol 97 (1979) 1926-1928
40. Asztalos B.F., Brousseau M.E., McNamara J.R., Horvath K.V., Roheim P.S., and Schaefer E.J. Subpopulations of high-density lipoproteins in homozygous and heterozygous Tangier disease. Atherosclerosis 156 (2001) 217-225
41. Rogler G., Trumbach B., Klima B., Lackner K.J., and Schmitz G. HDL-mediated efflux of intracellular cholesterol is impaired in fibroblasts from Tangier disease patients. Arterioscler Thromb Vasc Biol 15 (1995) 683-690
42. Francis G.A., Knopp R.H., and Oram J.F. Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier disease. J Clin Invest 96 (1995) 78-87
43. Rust S., Rosier M., Funke H., et al. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat Genet 22 (1999) 352-355
44. Langmann T., Klucken J., Reil M., et al. Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): evidence for sterol-dependent regulation in macrophages. Biochem Biophys Res Comm 257 (1999) 29-33
45. Brooks A., Marcil M., Clee S.M., et al. Mutation in ABC1 in Tangier disease and familial high density lipoprotein. Nature Gen 22 (1999) 336-345
46. Bodzioch M., Orso E., Klucken J., et al. The gene encoding ATP binding cassette transporter 1 is mutated in Tangier disease. Nature Gen 22 (1999) 347-351
47. Rust S., Rosier M., Funke H., et al. Tangier disease is caused by mutations in the gene encoding ATP binding cassette transporter 1. Nature Gen 22 (1999) 352-355
48. Brousseau M.E., Schaefer E.J., Dupuis J., et al. Novel mutations in the gene encoding ATP-binding cassette 1 in four Tangier disease kindreds. J Lipid Res 41 (2000) 433-441
49. Brousseau M.E., Eberhart G.P., Dupuis J., et al. Cellular cholesterol efflux in heterozygotes for Tangier disease is markedly reduced and correlates with high density lipoprotein cholesterol concentration and particle size. J Lipid Res 41 (2000) 1125-1135
50. Schaefer E.J., Brousseau M.E., Diffenderfer M.R., et al. Cholesterol and apolipoprotein B metabolism in Tangier disease. Atherosclerosis 159 (2001) 231-236
51. Norun K.R., and Gjone E. Familial plasma lecithin cholesterol acyl transferase deficient. Biochemical study if a new inborn error of metabolism. Scand J Clin Lab Invest 20 (1967) 231-235
52. Calabresi L., Pisciotta L., Constantin A., et al. The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families. Arterioscler Thromb Vasc Biol 25 (2005) 1972-1978
53. Asztalos B.F., Schaefer E.J., Horvath K.V., et al. Role of LCAT in HDL remodeling: investigation of LCAT deficiency states. J Lipid Res 48 (2007) 592-599
54. Asztalos B.F., De la Llera-Moya M., Dallal G.E., Horvath K.V., Schaefer E.J., and Rothblat G.H. Differential effects of HDL subpopulations on cellular ABCA1 and SRB1-mediated cholesterol efflux. J Lipid Res 46 (2005) 2246-2253
55. Asztalos B.F., Cupples L.A., Demissie S., et al. High density lipoprotein subpopulation profile and coronary heart disease prevalence in male participants in the Framingham Offspring Study. Arterioscler Thromb Vasc Biol 24 (2004) 2181-2187
56. Asztalos B.F., Collins D., Cupples L.A., et al. Value of high density lipoprotein (HDL) subpopulations in predicting recurrent cardiovascular events in the Veterans Affairs HDL Intervention Trial. Arterioscler Thromb Vasc Biol 25 (2005) 2185-2191
57. Asztalos B.F., Batista M., Horvath K.V., et al. Change in alpha 1 HDL concentration predicts progression in coronary artery stenosis. Arterioscler Thromb Vasc Biol 23 (2003) 847-852