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.
Références
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
Wang W, Wang YJ, Kelner DN (2003) Coagulation factor VIII: structure and stability. Int J Pharm 259: 1–15
Lenting PJ, Christophe OD, Guéguen P (2010) The disappearing act of factor VIII. Haemophilia 16: 6–15
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
Butenas S, Parhami-Seren B, Undas A, et al. (2010) The “normal” factor VIII concentration in plasma. Thromb Res 126: 119–123
Mohlke KL, Ginsburg D. (1997) Von Willebrand disease and quantitative variation in von Willebrand factor. J Lab Clin Med 130: 252–261
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
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
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
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
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
Kamphuisen PW, Eikenboom JC, Bertina RM (2001) Elevated factor VIII levels and the risk of thrombosis. Arterioscler Thromb Vasc Biol 21: 731–738
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
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
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
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
Souto JC, Almasy L, Borrell M, et al. (2000) Genetic determinants of hemostasis phenotypes in Spanish families. Circulation 101: 1546–1551
Patel RK, Lambie J, Bonner L, Arya R (2004) Venous thromboembolism in the black population. Arch Intern Med 164: 1348–1349
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
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
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
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
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
Goodeve AC, Rosén S, Verbruggen B (2010) Haemophilia A and von Willebrand’s disease. Haemophilia 16Suppl 5: 79–84
Franchini M, Favaloro EJ, Lippi G (2010) Mild hemophilia A. J Thromb Haemost 8: 421–432
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
Oldenburg J, Pavlova A (2006) Genetic risk factors for inhibitors to factors VIII and IX. Haemophilia 12Suppl 6: 15–22
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
Street AM, Ljung R, Lavery SA (2008) Management of carriers and babies with haemophilia. Haemophilia 14Suppl 3: 181–187
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
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
Tiede A, Eisert R, Czwalinna A, et al. (2010) Acquired haemophilia caused by non-haemophilic factor VIII gene variants. Ann Hematol 89: 607–612
Monpoux F, Brunet P, Fischer F, Appert-Flory A (2011) [Type 2N von Willebrand disease (Normandy)]. Arch Pediatr 18: 45–48
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
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
Spreafico M, Peyvandi F (2009) Combined Factor V and Factor VIII Deficiency. Semin Thromb Hemost 35: 390–399
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
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
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
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
Lecompte T (2009) Le GEHT prend position sur la thrombophilie. STV 21: 5–39
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
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
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11834-011-0047-7
Mots-clés
- Facteur VIII (FVIII)
- Facteur Willebrand (VWF)
- Hémophilie
- Willebrand Normandie
- Déficit hémorragique rare
- Maladie thromboembolique veineuse