Diagnostic algorithm for thrombophilia screening

Clinical Chemistry and Laboratory Medicine

Volumn 48, Issue SUPPL. 1, 2010, Pages

  Margetic, Sandra ^a  

^a SESTRE MILOSRDNICE UNIVERSITY HOSPITAL   (Croatia)

Author keywords

diagnostic algorithm; laboratory investigation; risk factors; thrombophilia; venous thromboembolism

Indexed keywords

ACTIVATED PROTEIN C; BETA2 GLYCOPROTEIN 1; BLOOD CLOTTING FACTOR 5 LEIDEN; BLOOD CLOTTING FACTOR 8; CARDIOLIPIN ANTIBODY; HEPARIN; LUPUS ANTICOAGULANT; PHOSPHOLIPID ANTIBODY; VITAMIN K GROUP;

ACTIVATED PROTEIN C RESISTANCE; ALGORITHM; DIAGNOSTIC TEST; DYSFIBRINOGENEMIA; HUMAN; HYPERHOMOCYSTEINEMIA; LABORATORY TEST; PATIENT SELECTION; PRIORITY JOURNAL; REVIEW; THROMBOPHILIA;

ALGORITHMS; BLOOD COAGULATION FACTORS; CLINICAL LABORATORY TECHNIQUES; GUIDELINES AS TOPIC; HUMANS; MUTATION; RISK FACTORS; THROMBOPHILIA;

EID: 79251615145     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/CCLM.2010.362     Document Type: Review

References (109)

1. Tripodi A. Laboratory diagnosis of thrombophilic states: Where do we stand? Pathophysiol Haemost Thromb 2002;32:245-8.
2. Favaloro EJ, McDonald D, Lippi G. Laboratory investigation of thrombophilia: The good, the bad and the ugly. Semin Thromb Hemost 2009;35:695-710.
3. Bauer KA, Rosendaal FR, Heit JA. Hypercoagulability: Too many tests, to much conflicting data. Hematol 2002;1:353-68.
4. Carano N, Agnetti A, Hagler DJ, Tchana B, Squarcia U, Bernasconi S. Acute myocardial infarction in a child: Possible pathogenic role of patent foramen ovale associated with heritable thrombophilia. Pediatrics 2004;114:255-8.
5. Baglin T, Gray E, Greaves M, Hunt BJ, Keeling D, Machin S, et al. Clinical guidelines for testing for heritable thrombophilia. Br J Haematol 2010;149:209-20.
6. Robertson R, Wu O, Greer I. Thrombophilia and adverse pregnancy outcome. Curr Opin Obstet Gynecol 2004;16:453-8.
7. Hossain N, Shamsi T, Soomro N. Frequency of thrombophilia in patients with adverse pregnancy outcome. J Pak Med Assoc 2005;55:245-7.
8. Cohen AT, Agnelli G, Anderson F, Arcelus JI, Bergqvist D, Brecht JG, et al. Venous thromboembolism (VTE) in Europe. The number of VTE events and associated morbidity and mortality. Thromb Haemost 2007;98:756-64.
9. Bronić A. Thromboembolic diseases as biological and clinical syndrome - Role of the Mediterranean League against Thromboembolic Diseases. Biochem Med 2010;20:9-12.
10. Spek CA, Reitsma PH. Genetic risk factors for venous thrombosis. Mol Genet Metab 2000;71:51-61.
11. Falanga A. Thrombophilia in cancer. Semin Thromb Haemost 2005;31:104-10.
12. Allman-Farinelli MA, Dawson B. Diet and aging: Bearing on thrombosis and hemostasis. Semin Thromb Hemost 2005;31: 111-7.
13. James AH, Jamison MG, Brancazio LR, Myers ER. Venous thromboembolism during pregnancy and the postpartum period: Incidence, risk factors and mortality. Am J Obstet Gynecol 2006;194:1311-5.
14. Hoffman R, Brenner B. Thrombophilia related issues in women and children. Semin Thromb Hemost 2005;31:97-103.
15. Lippi G, Franchini M. Pathogenesis of venous thromboembolism: When the cup runneth over. Semin Thromb Hemost 2008;34:747-61.
16. Brouwer JL, Veeger NJ, Kluin-Nelemans HC, van der Meer J. The pathogenesis of venous thromboembolism: Evidence of multiple interrelated causes. Ann Intern Med 2006;145:807-15.
17. Rosendaal FR. Venous thrombosis: The role of genes, environment, and behaviour. Hematology 2005;1:1-12.
18. Wu O, Robertson L, Twaddle S, Lowe GD, Clark P, Greaves M, et al. Screening for thrombophilia in high-risk situations: Systematic review and cost-effectiveness analysis. The Thrombosis: Risk and Economic Assessment of Thrombophilia Screening (TREATS) study. Health Technol Assess 2006;10:1-110.
19. Cohn DM, Roshani S, Middeldorp S. Thrombophilia and venous thromboembolism: Implications of testing. Semin Thromb Hemost 2007;33:573-81.
20. Cumming AM, Shiach CR. The investigation and management of inherited thrombophilia. Clin Lab Haem 1999;21:77-92.
21. Carraro P. European Communities Confederation of Clinical Chemistry and Laboratory Medicine (EC4) Working Group on Guidelines for Investigation of Disease. Guidelines for the laboratory investigation of inherited thrombophilias. Recommendations for the first level clinical laboratories. Clin Chem Lab Med 2003;41:382-91.
22. Mannucci PM. Laboratory detection of inherited thrombophilia: A historical perspective. Semin Thromb Hemost 2005;31:5-10.
23. Dalen JE. Should patients with venous thromboembolism be screened for thrombophilia? Am J Med 2008;121:458-63.
24. College of American Pathologists Consensus Conference XXXVI: Diagnostic issues in thrombophilia. Arch Pathol Lab Med 2002;126:1277-433.
25. Nicolaides AN, Breddin HK, Carpenter P, Coccheri S, Conard J, De Stefano V, et al. European Genetics Foundation Cardiovascular Disease Educational and Research Trust International Union of Angiology Mediterranean League on Thromboembolism. Thrombophilia and venous thromboembolism. International consensus statement. Guidelines according to scientific evidence. Int Angiol 2005;24:1-26.
26. De Stefano V, Finazzi G, Mannucci PM. Inherited thrombophilia: Pathogenesis, clinical syndromes and management. Blood 1996;87:3531-44.
27. Moll S. Testing for thrombophilias. Clin Adv Hematol Oncol 2008;6:646-9.
28. Tripodi A. Issues concerning the laboratory investigation of inherited thrombophilia. Mol Diagn 2005;9:181-6.
29. Scifres CM, Macones GA. The utility of thrombophilia testing in pregnant women with thrombosis: Fact or fiction? Am J Obstet Gynecol 2008;199:344-7.
30. Middeldorp SS, van Hylckama Vileg A. Does thrombophilia testing help in the clinical management of patients? Br J Haematol 2008;143:321-35.
31. Lindhoff-Last E, Luxembourg B. Evidence-based indications for thrombophilia screening. Vasa 2008;37:19-30.
32. Ridker PM, Glynn RJ, Miletich JP, Goldhaber SZ, Stampfer MJ, Hennekens CH. Age-specific incidence rates of venous thromboembolism among heterozygous carriers of factor V Leiden mutation. Ann Intern Med 1997;126:528-31.
33. De Stefano V, Rossi E, Paciaroni K, D'Orazio A, Cina G, Marchitelli E, et al. Different circumstances of the first venous thromboembolism among younger or older heterozygous carriers of the G20210A polymorphism in the prothrombin gene. Haematologica 2003;88:61-6.
34. Rosendaal FR, van Hylckama VA, Doggen CJ. Venous thrombosis in the elderly. J Thromb Haemost 2007;5(Suppl 1):310-7.
35. Tripodi A, Mannucci MP. Laboratory investigation of thrombophilia. Clin Chem 2001;47:1597-606.
36. Robetorye RS, Rodgers GM. Update on selected inherited venous thrombotic disorders. Am J Hematol 2001;68:256-68.
37. Seligsohn U, Lubetsky A. Genetic susceptibility to venous thrombosis. N Engl J Med 2001;344:1222-31.
38. McMahon C, Abu-Elmagd K, Bontempo FA, Kant JA, Swerdlow SH. JAK2 V617F mutation in patients with catastrophic intra-abdominal thromboses. Am J Clin Pathol 2007;127: 736-43.
39. Wautrecht JC. Venous thromboembolic disease: Which coagulation screening, for whom, when? Rev Med Brux 2005;26: 315-9.
40. Parker C, Omine M, Richards S, Nishimura J, Bessler M, Ware R, et al. Diagnosis and management of paroxysmal nocturnal hemoglobinuria. Blood 2005;106:3699-709.
41. Crowther MA, Roberts J, Roberts R, Johnston M, Stevens P, Skingley P, et al. Fibrinolytic variables in patients with recurrent venous thrombosis: A prospective cohort study. Thromb Haemost 2001;85:390-4.
42. Jennings I, Cooper P. Screening for thrombophilia: A laboratory perspective. Br J Biomed Sci 2003;60:39-51.
43. Favaloro EJ. Learning from peer assessment: The role of the external quality assurance multilaboratory thrombophilia test process. Semin Thromb Hemost 2005;31:85-9.
44. Plebani M, Sanzari MC, Zardo L. Quality control in coagulation testing. Semin Thromb Hemost 2008;34:642-6.
45. Bonar R, Favaloro EJ, Adcock DM. Quality in coagulation and haemostasis testing. Biochem Med 2010;20:184-99.
46. Favaloro EJ, Lippi G, Adcock DM. Preanalytical and postanalytical variables: The leading causes of diagnostic error in hemostasis? Semin Thromb Hemost 2008;34:612-34.
47. Dahlback B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C. Proc Natl Acad Sci USA 1993;90:1004-8.
48. Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994;369:64-7.
49. Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet 1995;346:1133-4.
50. Lucotte G, Mercier G. Population genetics of factor V Leiden in Europe. Blood Cells Mol Dis 2001;27:362-7.
51. Graf LL, Welsh CH, Qamar Z, Marlar RA. Activated protein C resistance assay detects thrombotic risk factors other than factor V Leiden. Am J Clin Pathol 2003;119:52-60.
52. Remkova A. Diagnostic approach to hypercoagulable states. Bratisl Lek Listy 2006;107:292-5.
53. Zangari M, Saghafifar F, Anaissie E, Badros A, Desikan R, Fassas A, et al. Activated protein C resistance in the absence of factor V Leiden mutation is a common finding in multiple myeloma and is associated with an increased risk of thrombotic complications. Blood Coag Fibrinolysis 2002;13:187-92.
54. Press RD, Bauer KA, Kujovich JL, Heit JA. Clinical utility of factor V Leiden (R506Q) testing for the diagnosis and management of thromboembolic disorders. Arch Pathol Lab Med 2002;126:1304-18.
55. Svensson PJ, Zoller B, Dahlback B. Evaluation of original and modified APC-resistance tests in unselected outpatients with clinically suspected thrombosis and in healthy controls. Thromb Haemost 1997;77:332-5.
56. Khor B, van Cott EM. Laboratory evaluation of hypercoagulability. Clin Lab Med 2009;29:339-66.
57. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996;88: 3698-703.
58. Zoller B, Garcia de Frutos P, Hillarp A, Dahlback B. Thrombophilia as a multigenic disease. Haematologica 1999;84: 59-70.
59. Grunewald M, Germowitz A, Beneke H, Guethner C, Griesshammer M. Coagulation II activity determination is not useful as a screening tool for the G20210A prothrombin gene allele (letter). Thromb Haemost 2000;84:141-2.
60. McGlennen RC, Key NS. Clinical and laboratory management of the prothrombin G20210A mutation. Arch Pathol Lab Med 2002;126:1319-25.
61. Coppola A, Tufano A, Cerbone AM, Di Minno G. Inherited thrombophilia: Implications for prevention and treatment of venous thromboembolism. Semin Thromb Hemost 2009;35: 683-94.
62. Rosendaal FR, Reitsma PH. Genetics of venous thrombosis. J Thromb Haemost 2009;7(Suppl 1):301-4.
63. Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorrh 1965;13:516-30.
64. Griffin JH, Evatt B, Zimmerman TS, Kleiss AJ, Wideman C. Deficiency of protein C in congenital thrombotic disease. J Clin Invest 1981;68:1370-3.
65. Comp PC, Esmon CT. Recurrent venous thromboembolism in a patients with a partial deficiency of protein S. N Engl J Med 1984;311:1525-8.
66. Kottke-Marchant K, Duncan A. Antithrombin deficiency: Issues in laboratory diagnosis. Arch Pathol Lab Med 2002;126: 1367-75.
67. Rossi E, Chiusolo P, Za T, Marietti S, Ciminello A, Leone G, et al. Report of a novel kindred with antithrombin heparin binding site variant (47 Arg to His): Demand for an automated progressive antithrombin assay to detect molecular variants with low thrombotic risk. Thromb Haemost 2007;98:695-7.
68. Castoldi E, Hackeng TM. Regulation of coagulation by protein S. Curr Opin Hematol 2008;15:529-36.
69. Van Cott EM, Ledford-Kraemer M, Meijer P, Nichols WL, Johnson SM, Perrschke EI. Protein S assays. Am J Clin Pathol 2005;123:778-85.
70. Walker ID, Greaves M, Preston FE. Investigation and management of heritable thrombophilia. Br J Haematol 2001;114: 512-8.
71. Haemostasis and Thrombosis Task Force, British Committee for Standards in Haematology. Investigation and management of heritable thrombophilia. Br J Haematol 2001;114:512-28.
72. Goodwin AJ, Rosendaal FR, Kottke-Marchant K, Bovill EG. A review of the technical, diagnostic, and epidemiologic considerations for protein S assays. Arch Pathol Lab Med 2002; 126:1349-66.
73. Robert A, Eschwege V, Hameg H, Drouet L, Aillaud MF. Anticoagulant response to Agkistrodon contortrix venom (AVC test): A new global test to screen for defects in the anticoagulant protein C pathway. Thromb Haemost 1996;75:562-6.
74. Rimmer JE, Cooper PC, Brookfield CJ, Preston FE, Makris M. Evaluation of a global screening assay for the investigation of the protein C anticoagulant pathway. Clin Lab Haematol 2000;22:351-4.
75. Gemmati D, Serino ML, Tognazzo S, Ongaro A, Moratelli S, Gilli G, et al. The reduced sensitivity of the ProC Global test in protein S deficient subjects reflects a reduction in the associated thrombotic risk. Blood Coagul Fibrin 2001;12:691-7.
76. Gardiner C, Cooper PC, Makris M, Mackie IJ, Malia RG, Machin SJ. An evaluation of screening tests for defects in the protein C pathway: Commercial kits lack sensitivity and specificity. Blood Coagul Fibrin 2002;13:155-63.
77. Gezer S. Antiphospholipid syndrome. Dis Mon 2003;49: 691-742.
78. Miyakis S, Lockshin MD, Atsumi T, Branch DW, Brey RL, Cervera R, et al. International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). J Thromb Haemost 2006;4:295-306.
79. Wisloff F, Jacobsen EM, Liestol S. Laboratory diagnosis of the antiphospholipid syndrome. Thromb Res 2002;108:263-71.
80. Favaloro EJ, Wong RC. Laboratory testing and identification of antiphospholipid antibodies and the antiphospholipid syndrome: A potpourri of problems, a compilation of possible solutions. Semin Thromb Hemost 2008;34:389-410.
81. Galli M. Clinical utility of laboratory tests used to identify antiphospholipid antibodies and to diagnose the antiphospholipid syndrome. Semin Thromb Hemost 2008;34:329-34.
82. Brandt JT, Triplett DA, Alving B, Scharrer IM. Criteria for the diagnosis of lupus anticoagulants: An update. Thromb Haemost 1995;74:1185-90.
83. Levine JS, Branch WD, Rauch J. The antiphospholipid syndrome. N Engl J Med 2002;346:752-63.
84. Pengo V, Tripodi A, Reber G, Rand JG, Ortel TL, Galli M, et al. Update of the guidelines for lupus anticoagulant detection. J Thromb Haemost 2009;7:1737-40.
85. Triplett DA. Use of the dilute Russell viper venom time (d- RVVT): Its importance and pitfalls. J Autoimm 2000;15:173-8.
86. Triplett DA. Antiphospholipid antibodies. Arch Pathol Lab Med 2002;126:1424-9.
87. Galli M, Luciani D, Bertolini G, Barbui T. Anti-beta-2-glycoprotein I, antiprothrombin antibodies, and the risk of thrombosis in the antiphospholipid syndrome. Blood 2003;102: 2717-23.
88. Reber G, de Moerloose P. Anti-beta-2-glycoprotein I antibodies - when and how should they be measured? Thromb Res 2004;114:527-31.
89. Marai I, Gillburd B, Blank M, Shoenfeld Y. Anti-cardiolipin and anti-beta2-glycoprotein I (beta2GP-I) antibody assays as screening for anti-phospholipid syndrome. Hum Antibodies 2003;12:57-62.
90. Dodig S. Interferences in quantitative immunochemical methods. Biochem Med 2009;19:50-62.
91. Edirisinghe SP. Homocysteine-induced thrombosis. Br J Biomed Sci 2004;61:40-7.
92. Falcon CR, Cattaneo M, Penzeri D, Martinelli I, Mannucci PM. High prevalence of hyperhomocysteinemia in patients with juvenile venous thrombosis. Arterioscler Thromb 2000; 14:1080-3.
93. Makris M. Hyperhomocysteinemia and thrombosis. Clin Lab Haem 2000;22:133-43.
94. Cattaneo M. Hyperhomocysteinemia and venous thromboembolism. Semin Thromb Hemost 2006;32:716-23.
95. Guba S, Fonseca V, Link L. Hyperhomocysteinemia and thrombosis. Semin Thromb Hemost 1999;253:291-309.
96. Bezemer ID, Doggen CJ, Vos HL, Rosendaal FR. No association between the common MTHFR 677C-)T polymorphism and venous thrombosis: Results from the MEGA study. Arch Intern Med 2007;167:497-501.
97. Key NS, McGlennen RC. Hyperhomocyst(e)inemia and thrombophilia. Arch Pathol Lab Med 2002;126:1367-75.
98. Alfirevic Z, Simundic AM, Nikolac N, Sobocan N, Alfirevic I, Stefanovic M, et al. Frequency of factor II G20210A, factor V Leiden, MTHFR C677T and PAI-1 5G/4G polymorphism in patients with venous thromboembolism: Croatian case-control study. Biochem Med 2010;20:229-35.
99. Tripodi A, Chantarangkul V, Lombardi R, Lecchi A, Mannucci PM, Cattaneo M. Multicenter study of homocysteine measurement. Performance characteristics of different methods, influence of standards on interlaboratory agreement of results. Thromb Haemost 2001;85:291-5.
100. Koster T, Blann AD, Briet E, Vanderbroucke JP, Rosendaal FR. Role of clotting factor VIII in effect of von Willebrand factor on occurrence of deep-vein thrombosis. Lancet 1995; 345:152-5.
101. O'Donnell J, Mumford AD, Manning RA, Laffan M. Elevation of FVIII: C in venous thromboembolism is persistent and independent of the acute phase response. Thromb Haemost 2000;83:10-3.
102. Kamphuisen PW, Houwing-Duistermaat JJ, van Houwelingen HC, Eikenboom JC, Bertina RM, Rosendaal FR. Familial clustering of factor VIII and von Willebrand factor levels. Thromb Haemost 1998;79:323-7.
103. Bank I, Libourel EJ, Middeldorp S, Hamulyak K, van Pampus EC, Koopman MM, et al. Elevated levels of FVIII:C within families are associated with an increased risk for venous and arterial thrombosis. J Thromb Haemost 2005;3:79-84.
104. Kraaijenhagen RA, in't Anker PS, Koopman MM, Reitsma PH, Prins MH, van den Ende A, et al. High plasma concentration of factor VIIIc is a major risk factor for venous thromboembolism. Thromb Haemost 2000;83:5-9.
105. Kyrle PA, Minar E, Hirschl M, Bialonczyk C, Stain M, Schneider B, et al. High plasma levels of factor VIII and the risk of recurrent venous thromboembolism. N Engl J Med 2000;343:457-62.
106. Benjaber K, Constans J, Cougnard A, Salmi LR. High levels of factor VIIIc and risk of venous thrombosis: Critical analysis of case control studies. Rev Med Intern 2003;24:366-71.
107. Cunningham MT, Brandt JT, Laposata M, Olson JD. Laboratory diagnosis of dysfibrinogenemia. Arch Pathol Lab Med 2002;126:499-505.
108. Haverkate F, Samama M. Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC subcommittee on fibrinogen. Thromb Haemost 1995;73:151-61.
109. Hayes T. Dysfibrinogenemia and thrombosis. Arch Pathol Lab Med 2002;126:1387-90.