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Variations physiologiques et pathologiques du facteur VIII « Le facteur VIII dans tous ses états »

Physiological and pathologic changes of the factor VIII « Factor VIII in all its forms »

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Résumé

Le facteur VIII est une glycoprotéine dont le rôle dans la cascade de la coagulation est essentiel. Les taux de facteur VIII dépendent à la fois de déterminants environnementaux (notamment physiologiques) et génétiques. La diminution du facteur VIII peut être responsable de syndromes hémorragiques. Cette diminution peut se rencontrer dans l’hémophilie A maladie et chez les conductrices d’hémophilie A mais aussi dans les différents types de maladie de Willebrand (particulièrement pour la forme 2N), dans l’hémophilie A acquise et dans un déficit hémorragique rare appelé déficit combiné en facteurs V et VIII. A l’inverse, l’augmentation des taux de facteur VIII peut être associée à une augmentation du risque thrombotique artériel et veineux. Cette élévation est principalement réactionnelle, et le plus souvent d’origine inflammatoire, mais il existe également une forme d’augmentation primitive isolée familiale.

Abstract

Factor VIII is a glycoprotein the role of which is essential in the coagulation cascade. The factor VIII depends on both environmental determinants, including physiological, and genetics. The decrease in factor VIII may be responsible for hemorrhagic syndromes. This decrease may occur in hemophilia A disease, in hemophilia A conductor, but also in different types of von Willebrand disease (including the form 2N), in acquired hemophilia A and rare hemorrhagic called a deficit combined factors V and VIII. Conversely, increased factor VIII levels may be associated with an increased risk of arterial and venous thrombosis. This elevation is often reactive and of iatrogenic origin, but there is also a real increase in isolated primary family form.

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Références

  1. Lenting PJ, van Mourik JA, Mertens K (1998) The life cycle of coagulation factor VIII in view of its structure and function. Blood 1; 92: 3983–3996

    CAS  Google Scholar 

  2. Wang W, Wang YJ, Kelner DN (2003) Coagulation factor VIII: structure and stability. Int J Pharm 259: 1–15

    Article  PubMed  CAS  Google Scholar 

  3. Lenting PJ, Christophe OD, Guéguen P (2010) The disappearing act of factor VIII. Haemophilia 16: 6–15

    Article  PubMed  CAS  Google Scholar 

  4. Saenko EL, Shima M, Sarafanov AG (1999) Role of activation of the coagulation factor VIII in interaction with vWf, phospholipid, and functioning within the factor Xase complex. Trends Cardiovasc Med 9: 185–192

    Article  PubMed  CAS  Google Scholar 

  5. Butenas S, Parhami-Seren B, Undas A, et al. (2010) The “normal” factor VIII concentration in plasma. Thromb Res 126: 119–123

    Article  PubMed  CAS  Google Scholar 

  6. Mohlke KL, Ginsburg D. (1997) Von Willebrand disease and quantitative variation in von Willebrand factor. J Lab Clin Med 130: 252–261

    Article  PubMed  CAS  Google Scholar 

  7. Michiels JJ, Berneman Z, Gadisseur A, et al. (2006) Characterization of recessive severe type 1 and 3 von Willebrand Disease (VWD), asymptomatic heterozygous carriers versus bloodgroup O-related von Willebrand factor deficiency, and dominant type 1 VWD. Clin Appl Thromb Hemost 12: 277–295

    Article  PubMed  CAS  Google Scholar 

  8. Gill JC, Endres-Brooks J, Bauer PJ, et al. (1987) The effect of ABO blood group on the diagnosis of von Willebrand disease. Blood 69: 1691–1695

    PubMed  CAS  Google Scholar 

  9. Orstavik KH, Magnus P, Reisner H, et al. (1985) Factor VIII and factor IX in a twin population. Evidence for a major effect of ABO locus on factor VIII level. Am J Hum Genet 37: 89–101

    PubMed  CAS  Google Scholar 

  10. Souto JC, Almasy L, Muñiz-Diaz E, et al. (2000) Functional effects of the ABO locus polymorphism on plasma levels of von Willebrand factor, factor VIII, and activated partial thromboplastin time. Arterioscler Thromb Vasc Biol 20: 2024–2048

    Article  PubMed  CAS  Google Scholar 

  11. Klarmann D, Eggert C, Geisen C, et al. (2010) Association of ABO(H) and I blood group system development with von Willebrand factor and Factor VIII plasma levels in children and adolescents. Transfusion 50: 1571–1580

    Article  PubMed  CAS  Google Scholar 

  12. Kamphuisen PW, Eikenboom JC, Bertina RM (2001) Elevated factor VIII levels and the risk of thrombosis. Arterioscler Thromb Vasc Biol 21: 731–738

    Article  PubMed  CAS  Google Scholar 

  13. Conlan MG, Folsom AR, Finch A, et al. (1993) Associations of factor VIII and von Willebrand factor with age, race, sex, and risk factors for atherosclerosis. The Atherosclerosis Risk in Communities (ARIC) Study. Thromb Haemost 70: 380–385

    PubMed  CAS  Google Scholar 

  14. Folsom AR, Rosamond WD, Shahar E, et al. (1999) Prospective study of markers of hemostatic function with risk of ischemic stroke. The Atherosclerosis Risk in Communities (ARIC) Study Investigators. Circulation 100: 736–742

    PubMed  CAS  Google Scholar 

  15. Begbie M, Notley C, Tinlin S, et al. (2000) The Factor VIII acute phase response requires the participation of NFkappaB and C/EBP. Thromb Haemost 84: 216–222

    PubMed  CAS  Google Scholar 

  16. Kang DE, Pietrzik CU, Baum L, et al. (2000) Modulation of amyloid beta-protein clearance and Alzheimer’s disease susceptibility by the LDL receptor-related protein pathway. J Clin Invest 106: 1159–1166

    Article  PubMed  CAS  Google Scholar 

  17. Souto JC, Almasy L, Borrell M, et al. (2000) Genetic determinants of hemostasis phenotypes in Spanish families. Circulation 101: 1546–1551

    PubMed  CAS  Google Scholar 

  18. Patel RK, Lambie J, Bonner L, Arya R (2004) Venous thromboembolism in the black population. Arch Intern Med 164: 1348–1349

    Article  PubMed  Google Scholar 

  19. Soria JM, Almasy L, Souto JC, et al. (2003) A new locus on chromosome 18 that influences normal variation in activated protein C resistance phenotype and factor VIII activity and its relation to thrombosis susceptibility. Blood 101: 163–167

    Article  PubMed  CAS  Google Scholar 

  20. Bovenschen N, Herz J, Grimbergen JM, et al. (2003) Elevated plasma factor VIII in a mouse model of low-density lipoprotein receptor-related protein deficiency. Blood 101: 3933–3939

    Article  PubMed  CAS  Google Scholar 

  21. Berger M, Moscatelli H, Kulle B, et al. (2008) Association of ADAMDEC1 haplotype with high factor VIII levels in venous thromboembolism. Thromb Haemost 99: 905–908

    PubMed  CAS  Google Scholar 

  22. Takeyama M, Nogami K, Matsumoto T, et al. (2010) Characterisation of an antibody specific for coagulation factor VIII that enhances factor VIII activity. Thromb Haemost 103: 94–102

    Article  PubMed  CAS  Google Scholar 

  23. Bowen DJ (2003) An influence of ABO blood group on the rate of proteolysis of von Willebrand factor by ADAMTS13. J Thromb Haemost 1: 33–40

    Article  PubMed  CAS  Google Scholar 

  24. Goodeve AC, Rosén S, Verbruggen B (2010) Haemophilia A and von Willebrand’s disease. Haemophilia 16Suppl 5: 79–84

    Article  PubMed  Google Scholar 

  25. Franchini M, Favaloro EJ, Lippi G (2010) Mild hemophilia A. J Thromb Haemost 8: 421–432

    Article  PubMed  CAS  Google Scholar 

  26. Ling M, Heysen JP, Duncan EM, et al. (2011) High incidence of ankle arthropathy in mild and moderate haemophilia A. Thromb Haemost 105: 261–268

    Article  PubMed  CAS  Google Scholar 

  27. Oldenburg J, Pavlova A (2006) Genetic risk factors for inhibitors to factors VIII and IX. Haemophilia 12Suppl 6: 15–22

    Article  PubMed  CAS  Google Scholar 

  28. Lebreton A, Lapalud P, Chambost H, et al. (2011) Prevalence and epitope specificity of non-neutralising antibodies in a large cohort of haemophilia A patients without inhibitors. Thromb Haemost 105: 954–961

    Article  PubMed  CAS  Google Scholar 

  29. Street AM, Ljung R, Lavery SA (2008) Management of carriers and babies with haemophilia. Haemophilia 14Suppl 3: 181–187

    Article  PubMed  Google Scholar 

  30. Ay C, Thom K, Abu-Hamdeh F, et al. (2010) Determinants of factor VIII plasma levels in carriers of haemophilia A and in control women. Haemophilia 16: 111–117

    Article  PubMed  CAS  Google Scholar 

  31. Sorenson JR, Jennings-Grant T, Newman J (2003) Communication about carrier testing within hemophilia A families. Am J Med Genet C Semin Med Genet 119C: 3–10

    Article  PubMed  Google Scholar 

  32. Tiede A, Eisert R, Czwalinna A, et al. (2010) Acquired haemophilia caused by non-haemophilic factor VIII gene variants. Ann Hematol 89: 607–612

    Article  PubMed  CAS  Google Scholar 

  33. Monpoux F, Brunet P, Fischer F, Appert-Flory A (2011) [Type 2N von Willebrand disease (Normandy)]. Arch Pediatr 18: 45–48

    Article  PubMed  CAS  Google Scholar 

  34. Michiels JJ, Berneman Z, Gadisseur A, et al. (2006) Characterization of recessive severe type 1 and 3 von Willebrand Disease (VWD), asymptomatic heterozygous carriers versus bloodgroup O-related von Willebrand factor deficiency, and dominant type 1 VWD. Clin Appl Thromb Hemost 12: 277–295

    Article  PubMed  CAS  Google Scholar 

  35. Nichols WL, Hultin MB, James AH, et al. (2008) Von Willebrand disease (VWD): evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA). Haemophilia 14: 171–232

    Article  PubMed  CAS  Google Scholar 

  36. Spreafico M, Peyvandi F (2009) Combined Factor V and Factor VIII Deficiency. Semin Thromb Hemost 35: 390–399

    Article  PubMed  CAS  Google Scholar 

  37. Peyvandi F, Palla R, Menegatti M, Mannucci PM (2009) Introduction. Rare bleeding disorders: general aspects of clinical features, diagnosis, and management. Semin Thromb Hemost 35: 349–355

    Article  PubMed  CAS  Google Scholar 

  38. Koster T, Blann AD, Briët E, Vandenbroucke JP, Rosendaal FR (1995) Role of clotting factor VIII in effect of von Willebrand factor on occurrence of deep-vein thrombosis. Lancet 345: 152–155

    Article  PubMed  CAS  Google Scholar 

  39. Kraaijenhagen RA, in’t Anker PS, Koopman MM, et al. (2000) High plasma concentration of factor VIIIc is a major risk factor for venous thromboembolism. Thromb Haemost 83: 5–9

    PubMed  CAS  Google Scholar 

  40. Kamphuisen PW, Rosendaal FR, Eikenboom JC, Bos R, Bertina RM (2000) Factor V antigen levels and venous thrombosis: risk profile, interaction with factor V leiden, and relation with factor VIII antigen levels. Arterioscler Thromb Vasc Biol 20: 1382–1386

    Article  PubMed  CAS  Google Scholar 

  41. Lecompte T (2009) Le GEHT prend position sur la thrombophilie. STV 21: 5–39

    Google Scholar 

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Pellegrina, L., Emile, C. Variations physiologiques et pathologiques du facteur VIII « Le facteur VIII dans tous ses états » . Bio trib. mag. 38, 31–38 (2011). https://doi.org/10.1007/s11834-011-0047-7

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