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Disease relevance of Thrombophilia


Psychiatry related information on Thrombophilia

  • METHODS: Using a numerical simulation model, we generated tissue factor (TF) initiated thrombin curves using coagulation factor levels from the Leiden Thrombophilia Study population and evaluated thrombotic risk, by sex, age, smoking, alcohol consumption, body mass index (BMI) and oral contraceptive (OC) use [6].

High impact information on Thrombophilia

  • Enhanced mRNA 3' end formation efficiency emerges as a novel principle causing a genetic disorder and explains the role of the F2 20210 G-->A mutation in the pathogenesis of thrombophilia [7].
  • Hypercoagulability in such women may therefore be due to the reduction of surface-bound annexin V by antiphospholipid antibodies [8].
  • CONCLUSIONS: Elevated levels of fasting insulin are associated with impaired fibrinolysis and hypercoagulability in subjects with normal glucose tolerance [9].
  • Fibrinogen Dusart, whose structural abnormality is in the COOH-terminal "alphaC" region of its Aalpha chain (Aalpha R554C-albumin), is associated with thrombophilia ("Dusart Syndrome"), and is characterized functionally by defective fibrin polymerization and clot structure, and reduced plasminogen binding and tPA-induced fibrinolysis [10].
  • The molecular defect in the abnormal fibrinogen Dusart (Paris V) that is associated with thrombophilia was determined by sequence analysis of genomic DNA that had been amplified using the polymerase chain reaction [11].

Chemical compound and disease context of Thrombophilia

  • Molecular basis for fibrinogen Dusart (A alpha 554 Arg-->Cys) and its association with abnormal fibrin polymerization and thrombophilia [11].
  • In an abnormal fibrinogen (fibrinogen Naples) associated with congenital thrombophilia we have identified a single base substitution (G----A) in the B beta chain gene that results in an amino acid substitution of alanine by threonine at position 68 in the B beta chain of fibrinogen [12].
  • Morning hypercoagulability and hypofibrinolysis. Diurnal variations in circulating activated factor VII, prothrombin fragment F1+2, and plasmin-plasmin inhibitor complex [13].
  • The structure of the gene for protein C, an anticoagulant serine protease, was analyzed in 29 unrelated patients with hereditary thrombophilia and protein C deficiency [14].
  • Antithrombin "Chicago": a functionally abnormal molecule with increased heparin affinity causing familial thrombophilia [15].

Biological context of Thrombophilia


Anatomical context of Thrombophilia


Gene context of Thrombophilia

  • We studied the relation between heritable thrombophilic defects and fetal loss in a cohort of women with factor V Leiden or deficiency of antithrombin, protein C, or protein S. METHODS: We studied 1384 women enrolled in the European Prospective Cohort on Thrombophilia (EPCOT) [25].
  • Indeed, systemic hypercoagulability in patients with cancer and TF overexpression by cancer cells are both closely associated with tumor progression, but their causes have been elusive [26].
  • This is supported by the presence of hypercoagulability, increased CD61 and CD62P on resting platelets, and higher plasma soluble P-selectin in L(-/-)/A(-/-)/FG(-/-) mice as compared to L(-/-)/A(-/-), FG(-/-), or wild-type mice [27].
  • Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation [28].
  • Abnormalities of the Protein C (PC) pathway are found in the majority of patients with thrombophilia [29].

Analytical, diagnostic and therapeutic context of Thrombophilia


  1. Acute Budd-Chiari syndrome with fulminant hepatic failure in a pregnant woman with factor V Leiden mutation. Fickert, P., Ramschak, H., Kenner, L., Hoefler, G., Hinterleitner, T.A., Petritsch, W., Klimpfinger, M., Krejs, G.J., Stauber, R.E. Gastroenterology (1996) [Pubmed]
  2. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Koster, T., Rosendaal, F.R., de Ronde, H., Briët, E., Vandenbroucke, J.P., Bertina, R.M. Lancet (1993) [Pubmed]
  3. Recurrent arterial thrombosis linked to autoimmune antibodies enhancing von Willebrand factor binding to platelets and inducing Fc gamma RII receptor-mediated platelet activation. Hoylaerts, M.F., Thys, C., Arnout, J., Vermylen, J. Blood (1998) [Pubmed]
  4. Evaluation of the association between hereditary thrombophilias and recurrent pregnancy loss: a meta-analysis. Kovalevsky, G., Gracia, C.R., Berlin, J.A., Sammel, M.D., Barnhart, K.T. Arch. Intern. Med. (2004) [Pubmed]
  5. Levels of factor VIIc associated with decreased tissue factor pathway inhibitor and increased plasminogen activator inhibitor-1 in dyslipidemias. Zitoun, D., Bara, L., Basdevant, A., Samama, M.M. Arterioscler. Thromb. Vasc. Biol. (1996) [Pubmed]
  6. Thrombin generation profiles in deep venous thrombosis. Brummel-Ziedins, K.E., Vossen, C.Y., Butenas, S., Mann, K.G., Rosendaal, F.R. J. Thromb. Haemost. (2005) [Pubmed]
  7. Increased efficiency of mRNA 3' end formation: a new genetic mechanism contributing to hereditary thrombophilia. Gehring, N.H., Frede, U., Neu-Yilik, G., Hundsdoerfer, P., Vetter, B., Hentze, M.W., Kulozik, A.E. Nat. Genet. (2001) [Pubmed]
  8. Pregnancy loss in the antiphospholipid-antibody syndrome--a possible thrombogenic mechanism. Rand, J.H., Wu, X.X., Andree, H.A., Lockwood, C.J., Guller, S., Scher, J., Harpel, P.C. N. Engl. J. Med. (1997) [Pubmed]
  9. Hyperinsulinemia, hyperglycemia, and impaired hemostasis: the Framingham Offspring Study. Meigs, J.B., Mittleman, M.A., Nathan, D.M., Tofler, G.H., Singer, D.E., Murphy-Sheehy, P.M., Lipinska, I., D'Agostino, R.B., Wilson, P.W. JAMA (2000) [Pubmed]
  10. The relationship between the fibrinogen D domain self-association/cross-linking site (gammaXL) and the fibrinogen Dusart abnormality (Aalpha R554C-albumin): clues to thrombophilia in the "Dusart syndrome". Mosesson, M.W., Siebenlist, K.R., Hainfeld, J., Wall, J.S., Soria, J., Soria, C., Caen, J.P. J. Clin. Invest. (1996) [Pubmed]
  11. Molecular basis for fibrinogen Dusart (A alpha 554 Arg-->Cys) and its association with abnormal fibrin polymerization and thrombophilia. Koopman, J., Haverkate, F., Grimbergen, J., Lord, S.T., Mosesson, M.W., DiOrio, J.P., Siebenlist, K.S., Legrand, C., Soria, J., Soria, C. J. Clin. Invest. (1993) [Pubmed]
  12. Molecular basis of fibrinogen Naples associated with defective thrombin binding and thrombophilia. Homozygous substitution of B beta 68 Ala----Thr. Koopman, J., Haverkate, F., Lord, S.T., Grimbergen, J., Mannucci, P.M. J. Clin. Invest. (1992) [Pubmed]
  13. Morning hypercoagulability and hypofibrinolysis. Diurnal variations in circulating activated factor VII, prothrombin fragment F1+2, and plasmin-plasmin inhibitor complex. Kapiotis, S., Jilma, B., Quehenberger, P., Ruzicka, K., Handler, S., Speiser, W. Circulation (1997) [Pubmed]
  14. Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene. Romeo, G., Hassan, H.J., Staempfli, S., Roncuzzi, L., Cianetti, L., Leonardi, A., Vicente, V., Mannucci, P.M., Bertina, R., Peschle, C. Proc. Natl. Acad. Sci. U.S.A. (1987) [Pubmed]
  15. Antithrombin "Chicago": a functionally abnormal molecule with increased heparin affinity causing familial thrombophilia. Bauer, K.A., Ashenhurst, J.B., Chediak, J., Rosenberg, R.D. Blood (1983) [Pubmed]
  16. Blood coagulation factor Va abnormality associated with resistance to activated protein C in venous thrombophilia. Sun, X., Evatt, B., Griffin, J.H. Blood (1994) [Pubmed]
  17. Partial protein S gene deletion in a family with hereditary thrombophilia. Ploos van Amstel, H.K., Huisman, M.V., Reitsma, P.H., Wouter ten Cate, J., Bertina, R.M. Blood (1989) [Pubmed]
  18. Disruption of a binding site for hepatocyte nuclear factor 1 in the protein C gene promoter is associated with hereditary thrombophilia. Berg, L.P., Scopes, D.A., Alhaq, A., Kakkar, V.V., Cooper, D.N. Hum. Mol. Genet. (1994) [Pubmed]
  19. Plasma antithrombin III and thrombin generation time: correlation with hemoglobin A1 and fasting serum glucose in young diabetic women. Sowers, J.R., Tuck, M.L., Sowers, D.K. Diabetes Care (1980) [Pubmed]
  20. Thrombotic status analyser. Measurement of platelet-rich thrombus formation and lysis in native blood. Gorog, D.A., Kovacs, I.B. Thromb. Haemost. (1995) [Pubmed]
  21. Measurement of tissue factor messenger RNA levels in leukocytes from patients in hypercoagulable state caused by several underlying diseases. Sase, T., Wada, H., Nishioka, J., Abe, Y., Gabazza, E.C., Shiku, H., Suzuki, K., Nakamura, S., Nobori, T. Thromb. Haemost. (2003) [Pubmed]
  22. Red blood cells may contribute to hypercoagulability in uraemia via enhanced surface exposure of phosphatidylserine. Bonomini, M., Sirolli, V., Merciaro, G., Antidormi, T., Di Liberato, L., Brummer, U., Papponetti, M., Cappelli, P., Di Gregorio, P., Arduini, A. Nephrol. Dial. Transplant. (2005) [Pubmed]
  23. Risk factors and management of patients with upper limb deep vein thrombosis. Ellis, M.H., Manor, Y., Witz, M. Chest (2000) [Pubmed]
  24. Catheter-directed thrombolysis and thrombectomy for the budd-chiari syndrome in paroxysmal nocturnal hemoglobinuria in three patients. Kuo, G.P., Brodsky, R.A., Kim, H.S. Journal of vascular and interventional radiology : JVIR. (2006) [Pubmed]
  25. Increased fetal loss in women with heritable thrombophilia. Preston, F.E., Rosendaal, F.R., Walker, I.D., Briët, E., Berntorp, E., Conard, J., Fontcuberta, J., Makris, M., Mariani, G., Noteboom, W., Pabinger, I., Legnani, C., Scharrer, I., Schulman, S., van der Meer, F.J. Lancet (1996) [Pubmed]
  26. Oncogenic events regulate tissue factor expression in colorectal cancer cells: implications for tumor progression and angiogenesis. Yu, J.L., May, L., Lhotak, V., Shahrzad, S., Shirasawa, S., Weitz, J.I., Coomber, B.L., Mackman, N., Rak, J.W. Blood (2005) [Pubmed]
  27. A fibrinogen deficiency accelerates the initiation of LDL cholesterol-driven atherosclerosis via thrombin generation and platelet activation in genetically predisposed mice. Iwaki, T., Sandoval-Cooper, M.J., Brechmann, M., Ploplis, V.A., Castellino, F.J. Blood (2006) [Pubmed]
  28. Familial thrombophilia associated with homozygosity for the cystathionine beta-synthase 833T-->C mutation. Gaustadnes, M., Rüdiger, N., Rasmussen, K., Ingerslev, J. Arterioscler. Thromb. Vasc. Biol. (2000) [Pubmed]
  29. "ProC Global": a functional screening test that predicts recurrent venous thromboembolism. Grand'Maison, A., Bates, S.M., Johnston, M., McRae, S., Ginsberg, J.S. Thromb. Haemost. (2005) [Pubmed]
  30. Correction of hypercoagulability and amelioration of pulmonary arterial hypertension by chronic blood transfusion in an asplenic hemoglobin E/beta-thalassemia patient. Atichartakarn, V., Chuncharunee, S., Chandanamattha, P., Likittanasombat, K., Aryurachai, K. Blood (2004) [Pubmed]
  31. High rate of acute rejections in renal allograft recipients with thrombophilic risk factors. Heidenreich, S., Dercken, C., August, C., Koch, H.G., Nowak-Göttl, U. J. Am. Soc. Nephrol. (1998) [Pubmed]
  32. Simvastatin attenuates vascular hypercoagulability in cardiac transplant recipients. Hölschermann, H., Hilgendorff, A., Kemkes-Matthes, B., Schönburg, M., Bauer, E.P., Tillmanns, H., Haberbosch, W. Transplantation (2000) [Pubmed]
  33. Risk of thrombosis associated with oral contraceptives of women from 97 families with inherited thrombophilia: high risk of thrombosis in carriers of the G20210A mutation of the prothrombin gene. Santamaría, A., Mateo, J., Oliver, A., Menéndez, B., Souto, J.C., Borrell, M., Soria, J.M., Tirado, I., Fontcuberta, J. Haematologica (2001) [Pubmed]
  34. Inherited thrombophilias and adverse pregnancy outcome: screening and management. Paidas, M.J., Ku, D.H., Langhoff-Roos, J., Arkel, Y.S. Semin. Perinatol. (2005) [Pubmed]
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