Interv Akut Kardiol. 2003;2(1):23-29

Venous and arterial thrombophilia

Jan Kvasnička
OKH I. interní kliniky VFN a 1. LF UK, Praha

Thrombophilia is a state of an increased tendency to the occurrence of thrombosis in veins and arteries. In both cases, it represents a multifactorial disease with different pathogenesis. In venous thrombosis, ceased blood flow and hypercoagulation are the main culprits, on the contrary, platelet activation and endothelial dysfunction in atherosclerosis are responsible in arterial thrombosis. A survey is given on known mutations or candidate phenotypes which are associated with thrombophilia and their practical point of view. Further clinical studies are warranted before we can definitively tell what tests are suitable for genetic diagnosis of thrombophilia.

Keywords: thrombophilia, venous, arterial, genetic tests.

Published: December 31, 2003  Show citation

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
Kvasnička J. Venous and arterial thrombophilia. Interv Akut Kardiol. 2003;2(1):23-29.
Share...
Download citation
  • BibTeX (.bib)
  • Bookends (.ris)
  • EasyBib (.ris)
  • EndNote (.enw)
  • EndNote 8 (.xml)
  • ISI WoS (.isi)
  • Medlars (.medlars)
  • Mendeley (.ris)
  • MODS (.xml)
  • Papers (.ris)
  • RefWorks (.txt)
  • RefManager (.ris)
  • RIS (.ris)
  • MS Word (.xml)
  • Zotero (.ris)
    • Open full article

    References

    1. Bertina RM. Genetic approach to thrombophilia. State of Art, The International Society on Thrombosis and Haemostasis XVIIIth Congress-Paris 2001 Thromb Haemost 2001; 86: 92-103. Go to original source...
    2. Yee KO, Ikari Y, Schwartz SM. An update of the Grützbag Hypothesis: the role of thrombosis and coagulation in atherosclerotic progression. Thromb Haemost 2001; 85: 207-217. Go to original source... Go to PubMed...
    3. Ross R. The pathogenesis of atheroclerosis: a perspective for the 1990s. Nature 1993; 362: 801-809. Go to original source... Go to PubMed...
    4. Colman RW, Hirsh J, Marder VJ, et al. Hemostasis and thrombosis. Basic priciples& clinical practice. 4. vydání, Philadelphia, Lippincott Williams and Wilkins 2001: 1578s.
    5. Carlos TM, Harlan JM. Review: Leukocyte-endothelial adhesion molecules. Blood 1994; 84: 2068-2101. Go to original source...
    6. Gabay C, Kushner I. Acute-phase proteins and other systemic response to inflammation. N Engl J Med 1999; 340: 448-454. Go to original source... Go to PubMed...
    7. van Aken BE, den Heijer M, Bos GMJ, et al. Recurrent venous thrombosis and markers of inflammation. Thromb Haemost 2000; 83: 536-539. Go to original source... Go to PubMed...
    8. Cazzola M, Skoda RC. Translation pathophysiology: a novel molecular mechanism of human disease. Blood 2000; 95: 3280-3288. Go to original source...
    9. Poort SR, Rosendaal FR, Reitsma PH, et al. 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: 3698-3703. Go to original source...
    10. Rosendaal FR. Venous thrombosis: a multicausal disease. Lancet 1999; 353: 1167-1173. Go to original source... Go to PubMed...
    11. Nordström M, Lindblad B, Berquist D, et al. A prospective study of the incidence of deep vein thrombosis within a defined urban population. J Intern Med 1992; 232: 155-160. Go to original source... Go to PubMed...
    12. Meijers JCM, Tekelenburg WLH, Bouma BN, et al. High levels of coagulation factor XI as a risk factor for venous thrombosis. N Engl J Med 2000; 342: 696-701. Go to original source... Go to PubMed...
    13. Kyrle PA, Minar E, Hirschl M, et al. High plasma levels of factor VIII and the risk of recurrent venous thromboembolism. N Engl J Med 2000; 243: 457-462. Go to original source... Go to PubMed...
    14. van Hylckama V, Lieg A, van der Linden IK, et al. High levels of factor IX increase the risk of venous thrombosis. Blood 2000; 95: 3678-3682. Go to original source...
    15. Canavy I, Henry M, Morange PE, et al. Genetic polymorphismus and coronary artery disease in the south of France. Thromb Haemost 2000; 83: 212-216. Go to original source... Go to PubMed...
    16. Tybjaerg-Hansen A, Agerholm-Larsen B, Humphries SE, et al. A common mutation (G455-A) in the b-fibrinogen promoter is an independent predictor of plasma fibrinogen, but not of ischemic heart disease. A study of 9,127 individuals based on the Copenhagen City Heart Study. J ClinInvest 1997; 99: 3034-3038. Go to original source...
    17. Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorrh 1965; 13: 516-530. Go to original source...
    18. Beauchamp NJ, Makris M, Preston FE, et al. Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency. Partial/complete deletions and rearrangement of the antithrombin gene. Thromb Haemost 2000; 83: 715-721. Go to original source... Go to PubMed...
    19. Kvasnička J, Ehler Z, Krška Z, et al. Trombofilie v klinické praxi. Anestez. a neod. péče 1995; 4: 129-131.
    20. Griffin JH, Evatt B, Zimmerman TS, et al. Deficiency of protein C in congenital thrombotic disease. J Clin Invest 1981; 68: 1370-1373. Go to original source... Go to PubMed...
    21. Schwartz HP, Fisher M, Hopmeier P, et al. Plasma protein S deficiency in familal thrombotic disease. Blood 1984; 64: 1297-1300. Go to original source...
    22. Giri TK, Yamazaki T, Sala N, et al. Deficient APC-cofactor activity of protein S Heerlen in degradation of factor Va Leiden: a possible mechanism of synergism between thrombophilic risk factors. Blood 2000; 96: 523-531. Go to original source...
    23. Moatti D, Haidar B, Fumeron F, et al. A new T- 287C polymorphism in the 5´regulatory region of the tissue factor pathway inhibitor gene. Thromb Haemost 2000; 84: 244-249. Go to original source... Go to PubMed...
    24. Lane DA, Grant PJ. Role of hemostatic gene polymorphisms in venous and arterial thrombotic disease. Blood 2000; 95: 1517-1532. Go to original source...
    25. Luddington R, Jackson A, Pannerselvam S, et al. The Factor V R2 allele: risk of venous thromboembolism, Factor V levels and resistance to activated Protein C. Thromb Haemost 2000; 83: 204-208. Go to original source... Go to PubMed...
    26. Björgell O, Nilsson PE, Nilsson JA, et al. Location and extent of deep vein thrombosis in patients with and without FV: R 506Q mutation. Thromb Haemost 2000; 83: 648-651. Go to original source... Go to PubMed...
    27. Taylor FB, Peer GT, Lockhart MS, et al. Endothelial cell protein C receptor plays an important role in protein C activation in vivo. Blood 2001; 97: 1685-1688. Go to original source... Go to PubMed...
    28. Marchi R, Lundberg U, Grimbergen J, et al. Fibrinogen Caracas V, an abnormal fibrinogen with an A a 532 Ser(R) Cys substitution associated with thrombosis. Thromb Haemost 2000; 84: 263-270. Go to original source... Go to PubMed...
    29. Tarumi T, Martinic DM, Thomas A, et al. Familial thrombophilia associated with fibrinogen Paris V: Dusard syndrome. Blood 2000; 96: 1191-1193. Go to original source...
    30. Catto AJ, Kohler HP, Coore J, et al. Association of common polymorphism in the factor XIII gene with venous thrombosis. Blood 1999; 93: 906-911. Go to original source...
    31. Bauer KA. The hypercoagulable states. In: Disorders of hemostasis. Ratnoff OD, Forbes ChD. eds, Saunders Co, Philadelphia 1996: 228-258.
    32. van den Eijnden-Schrauwen Y, Lakenberg N, Emeiss JJ, et al. Alu-repeat polymorphism in the tissue-type plasminogen activator(tPA) gene does not affect basal endothelial t-PA synthesis (letter). Thromb Haemost 1995; 74: 1202. Go to original source... Go to PubMed...
    33. Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995; 10: 111-118. Go to original source... Go to PubMed...
    34. Morris ST, Jardine AG. The vascular endothelium in chronic renal failure. J. Nephrol 2000; 13: 96-105. Go to PubMed...
    35. Khajuria A, Houston DS. Induction of monocyte tissue factor expression by homocysteine: a possible mechanism for thrombosis. Blood 2000; 96: 966-972. Go to original source...
    36. Midorikawa S, Sanada H, Hashimoto S, et al. Enhancement by homocysteine of plasminogen activator inhibitor-1 gene expression and secretion from vascular endothelial and smooth muscle cells. Biochem Biophys Res Commun 2000; 272: 182-185. Go to original source... Go to PubMed...
    37. Dardik R, Varon D, Tamarin I, et al. Homocysteine and oxidized low density lipoprotein enhance platelet adhesion to endothelial cells under flow condition: distinct mechanisms of thrombotic modulation. Thromb Haemost 2000; 83: 338-344. Go to original source... Go to PubMed...
    38. Greaves M. Antiphospholipid antibodies and thrombosis. Lancet 1999; 3: 1348-1353. Go to original source... Go to PubMed...
    39. Zenz W, Bodo Z, Plotho J, et al. Factor V Leiden and prothrombin gene G 20210 A variant in children with ischemic stroke. Thromb Haemost 1998; 80: 763-766. Go to original source... Go to PubMed...
    40. Siscovick DS, Schwartz SM, Rosendaal FR, et al. Thrombosis in the young: effect of atherosclerotic risk factors on the risk of myocardial infarction associated with prothrombotic factors. Thromb Haemost 1997; 78: 7-12. Go to original source... Go to PubMed...
    41. Doggen CJ, Kunz G, Rosendaal FR, et al. A mutation in the thrombomodulin gene 127 G to A coding for Ala25Thr, and the risk of myocardial infaction in men. Thromb Haemost 1998; 80: 743-748. Go to original source... Go to PubMed...
    42. Moatti D, Haidar B, Fumeron F, et al. A new T- 287C polymorphism in the 5´regulatory region of the tissue factor pathway inhibitor gene. Thromb Haemost 2000; 84: 244-249. Go to original source... Go to PubMed...
    43. Gonzalez-Conejero R, Lozano ML, Rivera J, et al. Polymorphisms of platelet membrane glycoprotein Ib alpha associated with arterial thrombotic disease. Blood 1998; 82: 2771-2776. Go to original source...
    44. Moshfegh K, Wullemin WA, Redondo M, et al. Association of two silent polymorphisms of platelet glycoprotein Ia/IIa receptor with risk of myocardial infarction. Lancet 353; 1999: 351-354. Go to original source... Go to PubMed...
    45. Garcia-Ribes M, Gonzales-Lamuno D, Hernandez-Estefania R, et al. Polymorphism of the platelet glycoprotein IIIa gene in patients with coronary stenosis. Thromb Haemost 1998; 79: 1126-1129. Go to original source... Go to PubMed...
    46. Brown ET, Fuller GM. Detection of a complex that associates with the B beta Fibrinogen G - 455 A polymorphism. Blood 1998; 92: 3286-3293. Go to original source...
    47. Ernst E, Koenig W, Lowe CDO, et al. Fibrinogen:, ,new" cardiovascular risk. factor. Wien Blackwell 1992: 480.
    48. Girelli D, Russo C, Ferraresi P, et al. Polymorphisms in the factor VII gene and the risk of myocardial infarction in patients with coronary artery disease. N Engl J Med 2000; 43: 774-780. Go to original source... Go to PubMed...
    49. Redondo M, Watzke HH, Stucki B, et al. Coagulation factors II, V, VII, and X, prothrombin gene 20210 G(R) A transition, and factor V Leiden in coronary artery disease. Arter Thromb Vascular Biol 1999; 19: 1020-1025. Go to original source... Go to PubMed...
    50. Wenzel K, Felis S, Kleber FS, et al. E-selectin polymorphism and aterosclerosis: an association study. Hum Mol Genet 1994; 3: 1935-1937. Go to original source... Go to PubMed...
    51. Herrmann SM, Ricard S, Nicaud V, et al. P-selectin gene is highly polymorphic: reduced frequency of the Pro 715 allele carriers in patients with myocardial infarction. Hum Mol Genet 1998; 7: 1277-1284. Go to original source... Go to PubMed...
    52. Elghannam H, Tavackoli S, Ferlic L, et al. A prospective study of genetic markers of susceptibility to infection and inflammation,and the severity,progresion,and regresion of coronary atherosclerosis and its response to therapy. J Mol Med 2000; 78: 562-568. Go to original source... Go to PubMed...
    53. González-Conejero R, Corral J, Roldán V, et al. A common polymorphism in the annexin V Kozak sequence (-1C > T) increases translation efficiency and plasma levels of annexin V, and decreases the risk of myocardial infarction in young patients. Blood 2002; 100: 2081-2086. Go to original source...
    54. Ridker PM, Stampfer MJ. Assessment of genetic markers for coronary thrombosis: promise and precaution. Lancet 1999; 353: 687-688. Go to original source... Go to PubMed...
    55. British Committee for standards in Haematology. Investigation and management of heritable thrombophilia. Br J Haematol 2001; 114: 512-528. Go to original source... Go to PubMed...
    56. Oger E, et EPI-GETBO Study Group. Incidence of venous thromboembolism: A community-based study in western France. Thromb Haemost 2000; 83: 57-660. Go to original source...
    57. Oger E, Lacut K, Le Gal G, et al. Is APC resistance a risk factor for venous thromboembolism in patients over 70 years? Thromb Haemost 2002,s.587-591. Go to original source... Go to PubMed...
    58. Stoll M, Cowey AW jr, Tonellato PJ, et al. A genomic - systems biology map of cardiovascular function. Science 2001; 294: 1723-1726. Go to original source... Go to PubMed...

    Return to the content


    Interventional Cardiology

    Madam, Sir,
    please be aware that the website on which you intend to enter, not the general public because it contains technical information about medicines, including advertisements relating to medicinal products. This information and communication professionals are solely under §2 of the Act n.40/1995 Coll. Is active persons authorized to prescribe or supply (hereinafter expert).
    Take note that if you are not an expert, you run the risk of danger to their health or the health of other persons, if you the obtained information improperly understood or interpreted, and especially advertising which may be part of this site, or whether you used it for self-diagnosis or medical treatment, whether in relation to each other in person or in relation to others.

    I declare:

    1. that I have met the above instruction
    2. I'm an expert within the meaning of the Act n.40/1995 Coll. the regulation of advertising, as amended, and I am aware of the risks that would be a person other than the expert input to these sites exhibited

    No
    Yes

    If your statement is not true, please be aware
    that brings the risk of danger to their health or the health of others.