Hyperhomocysteinemia and thrombophilia

Clinical Chemistry and Laboratory Medicine

Volumn 48, Issue SUPPL. 1, 2010, Pages

  Božič Mijovski, Mojca ^a  

^a UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

Author keywords

homocysteine; methods; thrombophilia; venous thromboembolism

Indexed keywords

HOMOCYSTEINE; METHIONINE;

ENZYME LINKED IMMUNOSORBENT ASSAY; HYPERHOMOCYSTEINEMIA; MASS FRAGMENTOGRAPHY; PRIORITY JOURNAL; REVIEW; THROMBOPHILIA;

CHROMATOGRAPHY, HIGH PRESSURE LIQUID; ENZYME-LINKED IMMUNOSORBENT ASSAY; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; HYPERHOMOCYSTEINEMIA; REFERENCE VALUES; THROMBOPHILIA;

EID: 79251645483     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/CCLM.2010.365     Document Type: Review

References (74)

1. Cambridge University Press, editors. Practical chemistry of homocysteine and other thiols. Cambridge: Cambridge University Press, 2001:510.
2. den Heijer M, Rosendaal FR, Blom HJ, Gerrits WB, Bos GM. Hyperhomocysteinemia and venous thrombosis: A meta-analysis. Thromb Haemost 1998;80:874-7.
3. Lijfering WM, Coppens M, van de Poel MH, Middeldorp S, Hamulyak K, Bank I, et al. The risk of venous and arterial thrombosis in hyperhomocysteinaemia is low and mainly depends on concomitant thrombophilic defects. Thromb Haemost 2007;98:457-63.
4. Moll S. Thrombophilias - practical implications and testing caveats. J Thromb Thrombolysis 2006;21:7-15.
5. Vaya A, Gomez I, Mira Y, Ferrando F, Corella D. Homocysteine levels in patients with deep vein thrombosis lacking thrombophilic defects. Thromb Haemost 2008;99:1132-4.
6. Favaloro EJ, McDonald D, Lippi G. Laboratory investigation of thrombophilia: The good, the bad, and the ugly. Semin Thromb Hemost 2009;35:695-710.
7. Lane DA, Mannucci PM, Bauer KA, Bertina RM, Bochkov NP, Boulyjenkov V, et al. Inherited thrombophilia: Part 1. Thromb Haemost 1996;76:651-62.
8. Gibson JB, Carson NA, Neill DW. Pathological findings in homocystinuria. J Clin Path 1964;17:427-37.
9. Boers GH, Smals AG, Trijbels FJ, Fowler B, Bakkeren JA, Schoonderwaldt HC, et al. Heterozygosity for homocystinuria in premature peripheral and cerebral occlusive arterial disease. N Engl J Med 1985;313:709-15.
10. Brattstrom L, Israelsson B, Hultberg B. Plasma homocysteine and methionine tolerance in early-onset vascular disease. Haemostasis 1989;19(Suppl 1):35-44.
11. Wilcken DE, Wilcken B. The pathogenesis of coronary artery disease. A possible role for methionine metabolism. J Clin Invest 1976;57:1079-82.
12. Božič M, Stegnar M, Fermo I, Ritonja A, Peternel P, Stare J, et al. Mild hyperhomocysteinemia and fibrinolytic factors in patients with history of venous thromboembolism. Thromb Res 2000;100:271-8.
13. Rees MM, Rodgers GM. Homocysteinemia: Association of a metabolic disorder with vascular disease and thrombosis. Thromb Res 1993;71:337-59.
14. Ray JG. Meta-analysis of hyperhomocysteinemia as a risk factor for venous thromboembolic disease. Arch Intern Med 1998;158:2101-6.
15. Kyrle PA, Stümpflen A, Hirscl M, Bialonczyk C, Herkner K, Speiser W, et al. Levels of prothrombin fragment F1q2 in patients with hyperhomocysteinemija and a history of venous thromboembolism. Thromb Haemost 1997;78:1327-31.
16. Starkebaum G, Harlan JM. Endothelial cell injury due to copper- catalysed hydrogen peroxide generation from homocysteine. J Clin Invest 1986;77:1370-6.
17. Tripodi A, Mannucci PM. Laboratory investigation of thrombophilia. Clin Chem 2001;47:1597-606.
18. Ridker PM, Hennekens CH, Selhub J, Miletich JP, Malinow RM, Stampfer MJ. Interrelation of hyperhomocyst(e)inemia, factor V Leiden, and risk of future venous thromboembolism. Circulation 1997;95:1777-82.
19. den Heijer M, Brouwer IA, Bos GM, Blom HJ, van der Put NM, Spaans AP, et al. Vitamin supplementation reduces blood homocysteine levels. Arterioscler Thromb Vasc Biol 1998; 18:356-61.
20. den Heijer M, Willems HP, Blom HJ, Gerrits WB, Cattaneo M, Eichinger S, et al. Homocysteine lowering by B vitamins and the secondary prevention of deep vein thrombosis and pulmonary embolism: A randomized, placebo-controlled, double-blind trial. Blood 2007;109:139-44.
21. Ray JG, Kearon C, Yi Q, Sheridan P, Lonn E. Homocysteinelowering therapy and risk for venous thromboembolism: A randomized trial. Ann Intern Med 2007;146:761-7.
22. Araki A, Sako Y. Determination of free and total homocysteine in human plasma by high-performance liquid chromatography with fluorescence detection. J Chromatogr 1987;422:43-52.
23. Refsum H, Helland S, Ueland PM. Radioenzymic determination of homocysteine in plasma and urine. Clin Chem 1985;31: 624-8.
24. Ueland PM, Refsum H, Stabler SP, Malinow MR, Andersson A, Allen RH. Total homocysteine in plasma or serum. Methods and clinical applications. Clin Chem 1993;39:1764-79.
25. Miles EW, Kraus JP. Cystathionine beta-synthase: Structure, function, regulation, and location of homocystinuria-causing mutations. J Biol Chem 2004;279:29871-4.
26. Olteanu H, Banerjee R. Cobalamin-dependent remethylation. In: Carmel R, Jacobsen DW, editors. Homocysteine in health and disease. Cambridge: Cambridge University Press, 2001: 135-44.
27. Kang S-S, Zhou J, Wong PW, Kowalisyn J, Strokosch G. Intermediate homocysteinemia: A thermolabile variant of methylenetetra- hydrofolate reductase. Am J Hum Genet 1988;43:414-21.
28. Bedencic M, Bozic M, Peternel P, Stegnar M. Major and potential prothrombotic genotypes in patients with venous thrombosis and in healthy subjects from Slovenia. Pathophysiol Haemost Thromb 2008;36:58-63.
29. Gudnason V, Stansbie D, Scott J, Bowron A, Nicaud V, Humphries S. C677T (thermolabile alanine/valine) polymorphism in methylenetetrahydrofolate reductase (MTHFR): Its frequency and impact on plasma homocysteine concentration in different European populations. EARS group. Atherosclerosis 1998;136: 347-54.
30. Jacques PF, Bostom AG, Williams RR, Ellison RC, Eckfeld JH, Rosenberg IH, et al. Relation between folate status, a common mutation in methylentetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation 1996;93:7-9.
31. Selhub J, Jacques PF, Wilson PW, Rush D, Rosenberg IH. Vitamin status and intake as primary determinants of homocysteinemia in an elderly population. J Am Med Assoc 1993;270: 2693-8.
32. van der Put NM, Gabreels F, Stevens EM, Smeitink JA, Trijbels FJ, Eskes TK, et al. A second common mutation in the methylenetetrahydrofolate reductase gene: An additional risk factor for neural-tube defects? Am J Hum Genet 1998;62:1044-51. (Pubitemid 28199004)
33. Kolling K, Ndrepepa G, Koch W, Braun S, Mehilli J, Schomig A, et al. Methylenetetrahydrofolate reductase gene C677T and A1298C polymorphisms, plasma homocysteine, folate, and vitamin B12 levels and the extent of coronary artery disease. Am J Cardiol 2004;93:1201-6.
34. Jacques PF, Bostom AG, Selhub J, Rich S, Ellison RC, Eckfeldt JH, et al. Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study. Atherosclerosis 2003;166: 49-55.
35. Laraqui A, Allami A, Carrie A, Raisonnier A, Coiffard AS, Benkouka F, et al. Relation between plasma homocysteine, gene polymorphisms of homocysteine metabolism-related enzymes, and angiographically proven coronary artery disease. Eur J Intern Med 2007;18:474-83.
36. Tsai MY, Bignell M, Schwichtenberg K, Hanson NQ. High prevalence of a mutation in the cystathionine beta-synthase gene. Am J Hum Genet 1996;59:1262-7.
37. Clarke R. Lowering blood homocysteine with folic acid based supplements: Meta-analysis of randomised trials. Br Med J 1998;316:894-8.
38. Naurath HJ, Joosten E, Riezler R, Stabler SP, Allen RH, Lindenbaum J. Effects of vitamin B12, folate, and vitamin B6 supplements in elderly people with normal serum vitamin concentrations. Lancet 1995;346:85-9.
39. Albert CM, Cook NR, Gaziano JM, Zaharris E, MacFadyen J, Danielson E, et al. Effect of folic acid and B vitamins on risk of cardiovascular events and total mortality among women at high risk for cardiovascular disease: A randomized trial. J Am Med Assoc 2008;299:2027-36.
40. Ebbing M, Bleie O, Ueland PM, Nordrehaug JE, Nilsen DW, Vollset SE, et al. Mortality and cardiovascular events in patients treated with homocysteine-lowering B vitamins after coronary angiography: A randomized controlled trial. J Am Med Assoc 2008;300:795-804.
41. Potter K, Hankey GJ, Green DJ, Eikelboom J, Jamrozik K, Arnolda LF. The effect of long-term homocysteine-lowering on carotid intima-media thickness and flow-mediated vasodilation in stroke patients: A randomized controlled trial and meta-analysis. BMC Cardiovasc Disord 2008;8:24.
42. Moore S, Stein WH. Photometric ninhydrin method for use in the chromatography of amino acids. J Biol Chem 1948;176: 367-88.
43. Christenson RH, Azzazy HM. Amino acids. In: Burtis CA, Ashwood ER, editors. Tietz textbook of clinical chemistry. Philadelphia: W.B. Saunders Company, 1999:444-76.
44. Rasmussen K, Moller J. Total homocysteine measurement in clinical practice. Ann Clin Biochem 2000;37(Pt 5):627-48.
45. Stabler SP, Marcell PD, Podell ER, Allen RH. Quantitation of total homocysteine, total cysteine, and methionine in normal serum and urine using capillary gas chromatography-mass spectrometry. Anal Biochem 1987;162:185-96.
46. Andersson A, Isaksson A, Brattstrom L, Hultberg B. Homocysteine and other thiols determined in plasma by HPLC and thiol-specific postcolumn derivatization. Clin Chem 1993;39: 1590-7.
47. Demaster EG, Shirota FN, Redfern B, Goon DJ, Nagasawa HT. Analysis of hepatic reduced glutathione, cysteine and homocysteine by cation-exchange high-performance liquid chromatography with electrochemical detection. J Chromatogr 1984; 308:83-91.
48. Andersson A, Brattström L, Isaksson A, Israelsson B, Hultberg B. Determination of homocysteine in plasma by ion-exchange chromatography. Scand J Lab Invest 1989;49:445-9.
49. Kang SS, Wong PW, Curley K. The effect of D-penicillamine on protein-bound homocyst(e)ine in homocystinurics. Pediatr Res 1982;16:370-2.
50. Carlucci F, Tabucchi A. Capillary electrophoresis in the evaluation of aminothiols in body fluids. J Chromatogr B Analyt Technol Biomed Life Sci 2009;877:3347-57.
51. Casetta B. Determination of total homocysteine in plasma using liquid chromatography coupled to tandem mass spectrometry (LC/MS/MS). Methods Mol Biol 2010;603:253-60.
52. Refsum H, Smith AD, Ueland PM, Nexo E, Clarke R, Mc- Partlin J, et al. Facts and recommendations about total homocysteine determinations: An expert opinion. Clin Chem 2004; 50:3-32.
53. Božic M, Skitek M, Ritonja A, Jerin A, Stegnar M. Determination of total plasma homocysteine. Farm Vestn 2001;52: 19-24.
54. Nexo E, Engbaek F, Ueland PM, Westby C, O'Gorman P, Johnston C, et al. Evaluation of novel assays in clinical chemistry: Quantification of plasma total homocysteine. Clin Chem 2000; 46:1150-6.
55. Ubbink JB, Delport R, Riezler R, Vermaak HW. Comparison of three different plasma homocysteine assays with gas chromatography- mass spectrometry. Clin Chem 1999;45:670-5.
56. Frantzen F, Faaren AL, Alfheim I, Nordhei AK. Enzyme conversion immunoassay for determining total homocysteine in plasma or serum. Clin Chem 1998;44:311-6.
57. Sundrehagen E, ASA A-S. Enzymatic Assay for Homocysteine and a Kit Therefor. EP 623174/US 5631127/US 5827645, US 5958717/US6063581.
58. Shipchandler MT, Moore EG. Rapid, fully automated measurement of plasma homocyst(e)ine with the Abbott IMx analyzer. Clin Chem 1995;41:991-4.
59. Costongs GM, van Oers RJ, Leerkens B, Hermans W, Janson PC. Evaluation of the Abbott automated random, immediate and continuous access immunoassay analyser, the AxSYM. Eur J Clin Chem Clin Biochem 1995;33:105-11.
60. Demuth K, Ducros V, Michelsohn S, Paul JL. Evaluation of Advia Centaur automated chemiluminescence immunoassay for determining total homocysteine in plasma. Clin Chim Acta 2004;349:113-20.
61. Ducros V, Demuth K, Sauvant MP, Quillard M, Causse E, Candito M, et al. Methods for homocysteine analysis and biological relevance of the results. J Chromatogr B Analyt Technol Biomed Life Sci 2002;781:207-26.
62. Zappacosta B, Persichilli S, Minucci A, Scribano D, Antenucci M, Fasanella S, et al. Analytical evaluation of a new immunonephelometric method for homocysteine measurement. Clin Chim Acta 2007;375:165-8.
63. Fermo I, Mazzola G, D'Angelo A, Paroni R. Determination of total plasma homocysteine: Comparison of a new enzyme immunoassay and a HPLC method. Thromb Haemost 2000;83: 968-9.
64. Huijgen HJ, Tegelaers FP, Schoenmakers CH, Pronk-Admiraal CJ, Ekema S. Multicenter analytical evaluation of an enzymatic method for the measurement of plasma homocysteine and comparison with HPLC and immunochemistry. Clin Chem 2004; 50:937-41.
65. Tan Y, Sun X, Tang L, Zhang N, Han Q, Xu M, et al. Automated enzymatic assay for homocysteine. Clin Chem 2003; 49:1029-30.
66. Magera MJ, Lacey JM, Casetta B, Rinaldo P. Method for the determination of total homocysteine in plasma and urine by stable isotope dilution and electrospray tandem mass spectrometry. Clin Chem 1999;45:1517-22.
67. Nelson BC, Pfeiffer CM, Zhang M, Duewer DL, Sharpless KE, Lippa KA. Commutability of NIST SRM 1955 homocysteine and folate in frozen human serum with selected total homocysteine immunoassays and enzymatic assays. Clin Chim Acta 2008;395:99-105.
68. Nauck M, Bisse E, Wieland H. Pre-analytical conditions affecting the determination of the plasma homocysteine concentration. Clin Chem Lab Med 2001;39:675-80.
69. de Graaf AO, de Jonge R, Velmans MH, Swaanenburg JC, Janssen MJ. Evaluation of blood collection tubes specific for homocysteine measurement. Clin Chem Lab Med 2008;46: 1652-4.
70. Malinow MR, Bostom AG, Krauss RM. Homocyst(e)ine, diet, and cardiovascular diseases. Circulation 1999;99:178-82.
71. Rasmussen K, Moller J, Lyngbak M, Holm Pedersen A-M, Dybkjaer L. Age- and gender-specific reference intervals for total homocysteine and methylmalonic acid in plasma before and after vitamin supplementation. Clin Chem 1996;42:630-6.
72. Dalery K, Lussier-Cacan S, Selhub J, Davignon J, Latour Y, Genest J. Homocysteine and coronary artery disease in French Canadian subjects: Relation with vitamins B12, B6, pyridoxal phosphate, and folate. Am J Cardiol 1995;75:1107-11.
73. Nygard O, Vollset SE, Refsum H, Stensvold I, Tverdal A, Nordrehaug JE, et al. Total plasma homocysteine and cardiovascular risk profile. The Hordaland Homocysteine Study. J Am Med Assoc 1995;274:1526-33.
74. Wilcken DE, Gupta VJ. Cystein-homocystein mixed disulphide: Differing plasma concentrations in normal men and women. Clin Sci 1979;57:211-5.