Inherited thrombophilic states

Seminars in Thrombosis and Hemostasis

Volumn 24, Issue SUPPL. 1, 1998, Pages 3-12

  Koneti Rao, A ^a   Kaplan, Robert ^a   Sheth, Sunita ^a  

^a TEMPLE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Antithrombin; Factor v leiden; Hypcrcoagulable states; Hyperhomocysteinemia; Inherited thrombophilic states; Protein c; Prothrombin variant 20210a; Venous thromboembolism

Indexed keywords

FOLIC ACID;

DIET THERAPY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; DYSFIBRINOGENEMIA; GENETIC SUSCEPTIBILITY; HUMAN; HYPERHOMOCYSTEINEMIA; PRIORITY JOURNAL; PROTHROMBIN DEFICIENCY; REVIEW; RISK FACTOR; THROMBOEMBOLISM; THROMBOGENESIS; THROMBOPHILIA; TREATMENT PLANNING; VITAMIN INTAKE;

ACTIVATED PROTEIN C RESISTANCE; FACTOR V; FEMALE; HUMANS; MALE; PREGNANCY; PREGNANCY COMPLICATIONS, CARDIOVASCULAR; THROMBOPHILIA;

EID: 0031764835     PISSN: 00946176     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (84)

1. Egeberg O. Inherited antithrombin deficiency causing thrombophilia.ThrombDiathHaemorrhag 1965; 116:754-761
2. Dahlbäck B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: Prediction of a cofactor to activated protein C. Proc Natl Acad Sei USA 1993;90:I004-100S
3. Griffin JH, Evatt B, Wideman C, Fernandez JA. Anticoagulant protein C pathway defective in majority of thrombophilic patients. Blood 1993:82:1989-1993
4. Bertina RM, Koeleman BP, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994;369:64-67
5. Voorberg J, Roelse J, Koopman R, et al. Association of idiopathic venous thromboembolism with single point mutation at Arg506 of factor V. Lancet 1994;343:1535-1536
6. Poort SR, Rosendaal FR, Reitsma PH, et al. A common genetic variation in the 3'-untransIated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996;88:3698-3703
7. Lane DA, Bayston T, Olds RJ, et al. Antithrombin III mutation database: 2nd (1997) Update. Thromb Haemostas 1997;77: 197-211
8. Finazzi G, Caccia R, Barbui T. Different prevalence of thromboembolism in the subtypes of congenital antithrombin III deficiency: Review of 404 cases. Thromb Haemostas 1987;58:1094 (Letter)
9. Dahlbäck B. Resistance to activated protein C as risk factor for thrombosis: Molecular mechanisms, laboratory investigation, and clinical management. Semin Hematol 1997;34:217234
10. Reitsma PH, Bernard! F, Doig RG, et al. Protein C deficiency: A database of mutations, 1995 update. Thromb Haemostas 1995:73:876-889
11. Aiach M, Borgei D, Baussem P, et al. Protein C and protein S deficiency. Semin Hematol 1997;34:205-217
12. Ohlin AK, Marlar RA. The first mutation identified in the thrombomodulin gene in a 45 year old man presenting with thromboembolic disease. Blood I995;85:330-336
13. Zoller B, Svensson PJ, He X, Dahlbäck B. Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C. J Clin Invest 1994;94:2521-2524
14. Prins MH, Hirsh J. A critical review of the evidence supporting a relationship between impaired fibrinolytic activity and venous thromboembolism. Arch Intern Med I991;151:172I-1731
15. Gram J, Sidelmann J, Jespersen J. Does low protein concentration of tissue-type plasminogen activator predict a low risk of spontaneous deep vein thrombosis? Thromb Haemostas 1995; 74:718-721
16. Dolan G, Preston FE. Familial plasminogen deficiency and thromboembolism. Fibrinolysis 1988;2(S2):26-34
17. Santori MT, Patrassi GM, Theodoridis P, et al. Heterozygous type I plasminogen deficiency is associated with an increased risk for thrombosis; a statistical analysis in 20 kindreds. Blood Coag Fibrinolysis 1994;5:889-893
18. Martinez J. Quantitative and qualitative disorders of fibrinogen. In: Huffman R, Benz El, Jr., Shattil SJ, et al. (eds). Hematology. Basic Principles and Practice, 2nd ed. New York: Churchill Livingstone; 1995:1703-1717
19. Haverkate F, Samama M. Familial dysfibrinogenemia and thrombophilia. Thromb Haemostas 1995;73:15I-161
20. DiAngelo A, Seihub J. Homocysteine and thrombotic disease. Blood 1997;90:1-11
21. DeStefano V, Finazzi G, Mannucci PM. Inherited thrombophilia: Pathogenesis, clinical syndromes and management. Blood 1996;87:3531-3544
22. Motulsky A. Nutritional ecogenetics: Homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid. Am J Hum Genet I996;58:17-20
23. Kang SS, Zhou J, Wong PWK, Kowalisyn J, Strokosch G. Intermediate homocysteinemia: A thermolabile variant of methylenetetrahydrofolate reductase. Am J Hum Genet 1988;43:414-421
24. Naurath JH, Joosten E, Riezler R, et al. Effects of vitamin B |2, folate and vitamin B6 supplement in elderly people with normal serum vitamin concentration. Lancet 1995;346:85-89
25. Falcon CR, Cattaneo M, Panzeri D, Martinelli I, Mannucci PM. High prevalence of hyperhomocyst(e)inemia in patients with juvenile venous thrombosis. Arterioscler Thromb 1994;14: 1080-1083
26. Den Heijer M, Blom HJ, Gerrits WBJ, et al. Is hyperhomocysteinaemia a risk factor for venous thrombosis? Lancet 1995; 345:882-885
27. Den Heijer M, Koster T, Blom HJ, et al. Hyperhomocysteinemia as a risk factor for deep vein thrombosis. N Engl J Med 1996; 334:759-762
28. Mandel H, Brenner B, Berant M, et al. Coexistence of hereditary homocystinuria and factor V Leiden-effect on thrombosis. N Engl J Med 1996;334:763-768
29. Harker LA, ROSS R, Slichter SJ, Scott CR. Homocystine-induced arteriosclerosis: The role of endothelial cell injury and platelet response in its genesis. J Clin Invest 1976;58:731-741
30. Upchurch GR Jr., Welch GN, Freedman JE, Loscalzo J. Homocysteine attenuates endothelial glutathione peroxidase and thereby potentiates peroxide-mediated injury. Circulation 1995;92:I-228 (Abst)
31. Loscalzo J. The oxidant stress of homocyst(e)inemia. J Clin Invest 1996;98:5-7
32. Tawakal A, Omland T, Gerhard M, Wu JT, Creager JT. Hyperhomocyst(e)inemia is associated with impaired endothelium-dependent vasodilation in humans. Circulation 1997;95:11191121
33. Simioni P, Lazarro AR, Coser E, Salmistraro G, Girolami A. Hereditary heparin cofactor II deficiency and thrombosis: Report of six patients belonging to two separate kindreds. Blood Coag Fibrinolysis 1990; 1:351-356
34. Sie P, Dupouy D, Pichon J, Boneu B. Constitutional heparin Cofactor II deficiency associated with recurrent thrombosis. Lancet 1985;2:414-416
35. Engesser L, Kluft C, Briet E, Brommer EJ. Familial elevation of plasma histidine rich glycoprotein in a family with thrombophilia. Br J Haematol 1987;67:355-358
36. Castaman G, Ruggeri M, Burci F, Rodeghiero F. High levels of histidine rich glycoprotein deficiency and familial thrombophilia: A new case. Thromb Res 1993;69:279-305
37. Mannhalter C, Fischer M, Hopmeier P, Deutsch E. Factor XII activity and antigen concentrations in patients suffering from recurrent thrombosis. Fibrinolysis 1987; 1:259-263
38. Halbmayer WM, Mannhalter C, Feichtinger C, Rubi K, Fischer M. The prevalence of factor XII deficiency in 103 orally anticoagulated outpatients suffering from recurrent venous and/or arterial thromboembolism. Thromb Haemostas 1992;68:285290
39. Levi M, Hack CE, de Boer JP, et al. Reduction of contact activation related fibrinolytic activity in factor XII deficient patients. J Clin Invest 1991 ;88:1155-1160
40. Ridker PM, Hennekens CH, Lindpaintner K, et al. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. N Engl J Med 1995;332:912-9I7
41. De Stefano V, Leone G, Mastangelo S, et al. Clinical manifestations and management of inherited thrombophilia: Retrospective analysis and follow-up after diagnosis of 238 patients with congenital deficiency of antithrombin III, protein C and protein S. Thromb Haemostas 1994;72:352-358
42. Demers C, Ginsberg JS, Hirsh J, Henderson P, Blajchman MA. Thrombosis in antithrombin-III-deficient persons. Report of a large kindred and literature review. Ann Intern Med 1992; 116:754-761
43. Pabinger I, Schneider B, the GTH Group on Natural Inhibitors. Thrombotic risk of women with hereditary antithrombin III-, protein C- and protein S-deficiency taking oral contraceptive medication. Thromb Haemostas 1994;71:548-552
44. Vandenbroucke JP, Koster T, Briet E, et al. Increased risk of venous thrombosis in oral-contraceptive users who are carriers of factor V Leiden mutation. Lancet 1994:344:1453-1457
45. van Boven HH, Vandenbroucke JP, Westendorp RGJ, Rosendaal FR. Mortality and causes of death in inherited antithrombin deficiency. Thromb Haemostas 1997;77:452-155
46. Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 1995:85:1504-1508
47. Svensson PJ, Dahlbäck B. Resistance to activated protein C as a basis for venous thrombosis. N Eng] J Med 1994;330:517-522
48. Ridker PM, Hennekens CH, Lindpaintner K, et al. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction. N Engl J Med 1995:332:912-917
49. Tait RC, Walker ID, Reitsma PH, et al. Prevalence of protein C deficiency in the healthy population. Thromb Haemostas !995;73:87-93
50. Miletich J, Sherman L, Broze G, Jr. Absence of thrombosis in subjects with heterozygous protein C deficiency. N Engl J Med 1987:317:991-996
51. Tait RC, Walker ID, Islam SIA, et al. Influence of demographic factors on antithrombin III activity in a healthy population. Br JHaematol 1993;84:476-480
52. Briet E, Engesser L, Brommer EJP, Broekmans W, Bertina RM. Thrombophilia: Its causes and a rough estimate of its prevalence. Thromb Haemostas 1987;58:39 (Abst)
53. Ben Tal O, Zivelin A, Seligsohn U. The relative frequency of hereditary thrombotic disorders among 107 patients with thrombophilia in Israel. Thromb Haemostas I989;61:50-54
54. Tabernero MD, Tomas JF, Alberca I, et al. Incidence and clinical characteristics of hereditary disorders associated with venous thrombosis. Am J Hematol 1991:36:249-254
55. Heijboer H, Brandjes DP, Biiller HR, Sturk A, ten Gate JW. Deficiencies of coagulation-inhibiting and fibrinolytic proteins in outpatients with deep-vein thrombosis. N Engl J Med 1990; 323:1512-1516
56. Koster T, Rosendaal FR, Briet E, et al. Protein C deficiency in a controlled series of unselected outpatients: An infrequent but clear risk factor for venous thrombosis. (Leiden Thrombophilia Study). Blood 1995;85:2756-2761
57. Rosendaal FR. Risk factors for venous thrombosis: Prevalence, risk and interaction. Semin Hematol I997;34:17I-187
58. Miletich JP, Prescott SM, White R, et al. Inherited predisposition to thrombosis. Cell 1993:72:749-758
59. Koeleman BP, Reitsma PH, Allaart CF, Bertina RM. Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. Blood 1994;84:1031-1035
60. Zoller B, Berntsdotter A, Garcia de Frutos P, Dahlbäck B. Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S. Blood 1995;85:35183523
61. van Boven HH, Reitsma PH, Rosendaal FR, et al. Factor V Leiden (FV R506Q) in families with inherited antithrombin deficiency. Thromb Haemostas 1996;75:417t21
62. Ireland H, Bayston TA, Chowdhury V, et al. Factor V Leiden as an independent risk factor for thrombosis and antithrombin deficiency type II: Heparin binding site. Thromb Haemostas 1995;73:1361(Abstr)
63. Hirsh J, Prins MH, Samama M. Therapeutic agents and their practical use in thrombotic disorders. Approach to the thrombophilic patient for hemostasis and thrombosis. In: Colman RW, Hirsh J, Marder VJ, Salzman EW (eds). Hemostasis and Thrombosis: Basic Principles and Clinical Practice, 2nd ed. Philadelphia: J. B. Lippincott Company; 1994:1543-1561
64. Simioni P, Prandoni P, Lensing AWA, et al. The risk of recurrent venous thromboembolism in patients with an Arg506->Gln mutation in the gene for factor V (factor V Leiden). N Engl J Med 1997:336:399-403
65. Ridker PM, Miletich JP, Stampfer MJ, et al. Factor V Leiden and risks of recurrent idiopathic venous thromboembolism. Circulation 1995:92:2800-2802
66. Prandoni P, Lensing AWA, Cogo A, et al. The long-term clinical course of acute deep venous thrombosis. Ann Intern Med 1996:125:1-7
67. Levine MN, Hirsh J, Gent M, et al. Optimal duration of oral anticoagulant therapy: A randomized trial comparing four weeks with three months of warfarin in patients with proximal deep vein thrombosis. Thromb Haemostas 1995:74:606-611
68. Schulman S, Granqvist S, Holmstrom M, et al. The duration of oral anticoagulant therapy after a second episode of venous thromboembolism. N Engl J Med 1997;336:393-398
69. Marciniak E, Gockerman JP. Heparin-induced decrease in circulating antithrombin-III. Lancet I977;2(8038):581-584
70. Rao AK, Niewiarowski S, Guzzo J, Day HJ. Antithrombin-III levels during heparin therapy. Thromb Res I981;24:181-186
71. Jorquera JI, Montoro JM, Fernandez MA, Aznar JA, Aznar J. Modified test for activated protein C resistance. Lancet 1994; 344:1162-1163
72. Boushey CJ, Beresford SAA, Omenn GS, Motulsky AG. A quantitative assessment of plasma homocysteine as a risk factor for vascular disease. Probable benefits of increasing folic acid intakes. JAMA 1995;274:I049-1057
73. Goldstein F, Stampfer MJ, Goldhaber SZ, et al. Prospective study of exogenous hormones and risk of pulmonary embolism in women. Lancet 1996;348:983-987
74. Jick H, Derby LE, Myers MW, Vasilaskis C, Newton KM. Risk of hospital admission for idiopathic venous thromboembolism among users of postmenopausal oestrogens. Lancet 1996; 348: 981-983
75. Vandenbroucke JP, Heimerhorst FM. Risk of venous thrombosis with hormone-replacement therapy. Lancet 1996;348:972
76. Daly E, Vessey MP, Hawkins MM, et al. Risk of venous thromboembolism in users of hormone replacement therapy. Lancet 1996;348:977-980
77. Preston FE, Rosendaal FR, Walker ID, et al. Increased fetal loss in women with heritable thrombophilia. Lancet 1996;348: 913-916
78. Conard J, Horellou MH, Van Dreden P, Lecompte T, Samama M. Thrombosis and pregnancy in congenital deficiencies in AT III, protein C or protein S: Study of 78 women. Thromb Haemostas 1990;63:319-320
79. De Stefano V, Leone G, Mastrangelo S, et al. Thrombosis during pregnancy and surgery in patients with congenital deficiency of antithrombin III, protein C, protein S. Thromb Hemostas 1994 ;71:799-800
80. Koeleman BPC, Reitsma PH, Bertina RM. Familial thrombophilia: A complex genetic disorder. Semin Hematol I997;34:256-264
81. Seligsohn W, Zirelin A. Thrombophilia as a multigene disorder. Thromb Haemostas 1997;78:297-30I
82. Rosendaal FR, Siscovick DS, Schwartz SH, et al. A common prothrombin variant (2021OG to A) increases the risk of myocardinal infarction in young women. Blood 1997;90:1747-1750
83. Doggen CJ, Cats VM, Bertina RM, Rosendaal FR. Interaction of coagulation defects and cardiovascular risk factors: Increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A. Circulation I998;97:1037-1041
84. De Stefano V, Chiusolo P, Paciaroni K, et al. Prothrombin G202IOA mutant genotype is a risk factor for cerebrovascular ischémie disease in young patients. Blood I998;9I:35623565