Inherited disorders of blood coagulation

Annals of Medicine

Volumn 44, Issue 5, 2012, Pages 405-418

  Lippi, Giuseppe ^a   Franchini, Massimo ^a   Montagnana, Martina ^b   Favaloro, Emmanuel J ^c  

^a UNIVERSITY HOSPITAL OF PARMA   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

^c WESTMEAD HOSPITAL   (Australia)

Author keywords

Bleeding; Coagulation; Deficiency; Hemorrhage; Inherited

Indexed keywords

BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 12; BLOOD CLOTTING FACTOR 7; BLOOD CLOTTING FACTOR 7A; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 9; BLOOD CLOTTING FACTOR 9A; CYANOCOBALAMIN; FIBRIN; FIBRINOGEN; PROTEIN C; PROTEIN S; THROMBIN; TRANSCRIPTION FACTOR II; TRANSCRIPTION FACTOR IIA;

APLASTIC ANEMIA; BERNARD SOULIER DISEASE; BLEEDING; BLOOD CLOTTING; BLOOD CLOTTING DISORDER; BLOOD CLOTTING FACTOR 10 DEFICIENCY; BLOOD CLOTTING FACTOR 11 DEFICIENCY; BLOOD CLOTTING FACTOR 5 DEFICIENCY; BLOOD CLOTTING FACTOR 7 DEFICIENCY; BLOOD TRANSFUSION; CHRONIC MYELOID LEUKEMIA; CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA; CYANOCOBALAMIN DEFICIENCY; DISSEMINATED INTRAVASCULAR CLOTTING; FACTOR II DEFI CIENCY; FIBRINOGEN DEFECT; FIBRINOLYSIS; GLANZMANN DISEASE; HEMOLYTIC UREMIC SYNDROME; HEMOPHILIA A; HEMOPHILIA B; HEMOSTASIS; HUMAN; IDIOPATHIC THROMBOCYTOPENIC PURPURA; KIDNEY FAILURE; MEDITERRANEAN MACROTHROMBOCYTOPENIA; MONTREAL PLATELET SYNDROME; MYELOFIBROSIS; PATHOPHYSIOLOGY; POLYCYTHEMIA VERA; PRIORITY JOURNAL; PROTHROMBIN DEFICIENCY; REVIEW; SCOTT SYNDROME; THROMBOCYTE ADHESION; THROMBOCYTE DISORDER; THROMBOTIC THROMBOCYTOPENIC PURPURA; VIRUS INFECTION; VON WILLEBRAND DISEASE; WISKOTT ALDRICH SYNDROME;

BLOOD COAGULATION; BLOOD COAGULATION DISORDERS; COAGULATION PROTEIN DISORDERS; HEMOPHILIA A; HEMOPHILIA B; HUMANS; VON WILLEBRAND DISEASES;

EID: 84864035161     PISSN: 07853890     EISSN: 13652060     Source Type: Journal    
DOI: 10.3109/07853890.2011.576698     Document Type: Review

References (69)

1. Bouma BN, Mosnier LO. Thrombin activatable fibrinolysis inhibitor (TAFI)-how does thrombin regulate fibrinolysis? Ann Med. 2006;38:378-88. (Pubitemid 44484876)
2. Lippi G, Franchini M. Pathogenesis of venous thromboembolism: when the cup runneth over. Semin Thromb Hemost. 2008;34:747-61.
3. Laterre PF, Wittebole X, Collienne C. Pharmacological inhibition of tissue factor. Semin Thromb Hemost. 2006; 32: 71-6.
4. World Federation of Hemophilia. What is a bleeding disorder? Available at: http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid- 26&contentid-5&rptnam-bleeding (accessed 23 July 2010).
5. Franchini M, Targher G, Lippi G. Prophylaxis in von Willebrand disease. Ann Hematol. 2007;86:699-704. (Pubitemid 47337931)
6. Favaloro EJ. Genetic testing for von Willebrand disease: the case against. J Thromb Haemost. 2010;8:6-12.
7. Franchini M, Mannucci PM. Von Willebrand factor: another janus-faced hemostasis protein. Semin Thromb Hemost. 2008;34:663-9.
8. Sadler JE, Budde U, Eikenboom JCJ, Favaloro EJ, Hill FGH, Holmberg L, et al. Working Party on von Willebrand Disease Classification. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J Thromb Haemost. 2006;4: 2103-14. (Pubitemid 44403432)
9. Favaloro EJ. Laboratory identification of von Willebrand disease: technical and scientific perspectives. Semin Thromb Hemost. 2006;32:456-71. (Pubitemid 44157383)
10. Favaloro EJ. Towards a new paradigm for the identification and functional characterisation of von Willebrand disease. Semin Thromb Hemost. 2009;35:60-75.
11. Favaloro EJ. Phenotypic identification of platelet-type von Willebrand disease and its discrimination from type 2B von Willebrand disease: a question of 2B or not 2B? A story of nonidentical twins? Or two sides of a multidenominational or multifaceted primary-hemostasis coin? Semin Thromb Hemost. 2008;34:113-27.
12. Favaloro EJ, Mohammed S, Koutts J. Identification and prevalence of von Willebrand Disease type 2N (Normandy) in Australia. Blood Coag Fibrinolysis. 2009;20:706-14.
13. Federici AB, Mannucci PM. Management of inherited von Willebrand disease in 2007. Ann Med. 2007;39:346-58. (Pubitemid 47262685)
14. Turecek PL, Schrenk G, Rottensteiner H, Varadi K, Bevers E, Lenting P, et al. Structure and function of a recombinant von Willebrand factor (VWF) drug candidate. Semin Thromb Hemost. 2010;36:510-21.
15. Bolton-Maggs PH, Pasi KJ. Haemophilia A and B. Lancet. 2003;361:1801-9.
16. Mannucci PM, Tuddenham EG. The hemophilias-from royal genes to gene therapy. N Engl J Med. 2001;344: 1773-9. (Pubitemid 32497033)
17. Broze GJ, Higuchi D. Coagulation-dependent inhibition of fibrinolysis: role of carboxypeptidase-U and the premature lysis of clots from hemophilic plasma. Blood. 1996;88: 3815-23. (Pubitemid 26383103)
18. Oldenburg J, Schwaab R. Molecular biology of blood coagulation. Semin Thromb Hemost. 2001;27:313-24. (Pubitemid 32802888)
19. White GC II, Rosendaal F, Aledort LM, Lusher JM, Rothschild C, Ingerslev J. Definitions in hemophilia: recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost. 2001;85:560. (Pubitemid 32233035)
20. Franchini M, Coppola A, Molinari AC, Santoro C, Schinco P, Speciale V, et al. Forum on: the role of recombinant factor VIII in children with severe haemophilia A. Haemophilia. 2009;15:578-86.
21. Franchini M, Lippi G. Recombinant factor VIII concentrates. Semin Thromb Hemost. 2010;36:493-7.
22. Monahan PE, Di Paola J. Recombinant factor IX for clinical and research use. Semin Thromb Hemost. 2010;36:498-509.
23. Coppola A, Franchini M, Tagliaferri A. Prophylaxis in people with hemophilia. Thromb Haemost. 2009;101:674-81.
24. Tagliaferri A, Rivolta GF, Iorio A, Oliovecchio E, Mancuso ME, Morfini M, et al. for the Italian Association of Hemophilia Centers. Mortality and causes of death in Italian persons with haemophilia, 1990-2007. Haemophilia. 2010;16:437-46.
25. Mannucci PM. Back to the future: a recent history of haemophilia treatment. Haemophilia. 2008;14 (Suppl 3): 10-18. (Pubitemid 351722377)
26. Llewelyn CA, Hewitt PE, Knight RS, Amar K, Cousens S, Mackenzie J, et al. Possible transmission of variant Creutzfeldt-Jakob disease by blood transfusion. Lancet. 2004;363: 417-21. (Pubitemid 38210057)
27. Pipe SW. Recombinant clotting factors. Thromb Haemost. 2008;99:840-50. (Pubitemid 351705300)
28. Gringeri A, Mantovani LG, Scalone L, Mannucci PM. Cost of care and quality of life for patients with hemophilia complicated by inhibitors: the COCIS Study Group. Blood. 2003;102:2358-63. (Pubitemid 37193570)
29. Gouw SC, van den Berg HM. The multifactorial etiology of inhibitor development in hemophilia: genetics and environment. Semin Thromb Hemost. 2009;35:723-34.
30. Oldenburg J, Schröd er J, Brackmann HH, Müller-Reible C, Schwaab R, Tuddenham E. Environmental and genetic factors influencing inhibitor development. Semin Hematol. 2004;41(Suppl 1):82-8. (Pubitemid 38182722)
31. Santagostino E, Mancuso ME, Rocino A, Mancuso G, Mazzucconi MG, Tagliaferri A, et al. Environmental risk factors for inhibitor development in children with haemophilia A: a case-control study. Br J Haematol. 2005;130:422-7. (Pubitemid 43899592)
32. Gouw SC, van der Bom JG, Auerswald G, Ettinghausen CE, Tedgård U, van den Berg HM. Recombinant versus plasmaderived factor VIII products and the development of inhibitors in previously untreated patients with severe hemophilia A: the CANAL cohort study. Blood. 2007;109:4693-7. (Pubitemid 46827760)
33. Goudemand J, Rothschild C, Demiguel V, Vinciguerrat C, Lambert T, Chambost H, et al. FVIII-LFB and Recombinant FVIII study groups. Influence of the type of factor VIII concentrate on the incidence of factor VIII inhibitors in previously untreated patients with severe hemophilia A. Blood. 2006;107:46-51. (Pubitemid 43054971)
34. Chalmers EA, Brown SA, Keeling D, Liesner R, Richards M, Stirling D, et al. Paediatric Working Party of UKHCDO. Early factor VIII exposure and subsequent inhibitor development in children with severe haemophilia A. Haemophilia. 2007;13:149-55. (Pubitemid 46237946)
35. Berntorp E, Shapiro A, Astermark J, Blanchette VS, Collins PW, Dimichele D, et al. Inhibitor treatment in haemophilias A and B: summary statement for the 2006 international consensus conference. Haemophilia. 2006;12 (Suppl 6):1-7. (Pubitemid 44741496)
36. Jadhav M, Warrier I. Anaphylaxis in patients with hemophilia. Semin Thromb Hemost. 2000;26:205-8. (Pubitemid 30439359)
37. Franchini M, Lippi G, Montagnana M, Targher G, Zaffanello M, Salvagno GL, et al. Anaphylaxis in patients with congenital bleeding disorders and inhibitors. Blood Coagul Fibrinolysis. 2009;20:225-9.
38. Verbruggen B, van Heerde WL, Laros-van Gorkom BA. Improvements in factor VIII inhibitor detection: From Bethesda to Nijmegen. Semin Thromb Hemost. 2009;35: 752-9.
39. Kershaw G, Jayakodi D, Dunkley S. Laboratory identification of factor inhibitors: the perspective of a large tertiary hemophilia center. Semin Thromb Hemost. 2009;35:760-8.
40. Favaloro EJ, Bonar R, Kershaw G, Duncan E, SioufiJ, Marsden K. Investigations from external quality assurance programs reveal a high degree of variation in the laboratory identification of coagulation factor inhibitors. Semin Thromb Hemost. 2009;35:794-805.
41. Franchini M, Lippi G. Recent improvements in the clinical treatment of coagulation factor inhibitors. Semin Thromb Hemost. 2009;35:806-13.
42. Mathews V, Nair SC, David S, Viswabandya A, Srivastava A. Management of hemophilia in patients with inhibitors: the perspective from developing countries. Semin Thromb Hemost. 2009;35:820-6.
43. Astermark J. Treatment of the bleeding inhibitor patient. Semin Thromb Hemost. 2003;29:77-85. (Pubitemid 36250268)
44. Von Depka M. Managing acute bleeds in the patient with haemopilia and inhibitors: options, efficacy and safety. Haemophilia. 2005;11(Suppl 1):18-23.
45. Franchini M, Manzato F, Salvagno GL, Montagnana M, Zaffanello M, Lippi G. Prophylaxis in congenital hemophilia with inhibitors: the role of recombinant activated factor VII. Semin Thromb Hemost. 2009;35:814-9.
46. Ananyeva NM, Lee TK, Jain N, Shima M, Saenko EL. Inhibitors in hemophilia A: advances in elucidation of inhibitory mechanisms and in inhibitor management with bypassing agents. Semin Thromb Hemost. 2009;35:735-51.
47. DiMichele D, Hoots WK, Pipe SW, Rivard GE, Santagostino E. International workshop on immune tolerance induction: consensus recommendations. Haemophilia. 2007;13(Suppl 1):1-22. (Pubitemid 47009242)
48. Viala NO, Larsen SR, Rasko JE. Gene therapy for hemophilia: clinical trials and technical tribulations. Semin Thromb Hemost. 2009;35:81-92.
49. Lippi G, Franchini M, Saenko EL. Gene therapy for hemophilia A. Friend or foe? Blood Coagul Fibrinolysis. 2009;20: 395-9.
50. World Federation of Hemophilia. What are rare clotting factor deficiencies? World Federation of Hemophilia; 2009.
51. Peyvandi F, Palla R, Menegatti M, Mannucci PM. Introduction. Rare bleeding disorders: general aspects of clinical features, diagnosis, and management. Semin Thromb Hemost. 2009;35:349-55.
52. World Federation of Hemophilia. WFH report on the Annual Global Survey 2007. Available at: http://www.wfh.org/2/docs/Publications/Statistics/2007- Survey-Report.pdf (accessed 23 July 2010).
53. de Moerloose P, Neerman-Arbez M. Congenital fibrinogen disorders. Semin Thromb Hemost. 2009;35:356-66.
54. de Moerloose P, Boehlen F, Neerman-Arbez M. Fibrinogen and the risk of thrombosis. Semin Thromb Hemost. 2010;36: 7-17.
55. Bolton-Maggs PHB, Perry DJ, Chalmers EA, Parapia LA, Wilde JT, Williams MD, et al. The rare coagulation disorders-review with guidelines for management from the United Kingdom Haemophilia Centre Doctors 'Organisation. Haemophilia. 2004;10:593-628. (Pubitemid 39317772)
56. Lancellotti S, De Cristofaro R. Congenital prothrombin deficiency. Semin Thromb Hemost. 2009;35:367-81.
57. Asselta R, Peyvandi F. Factor V deficiency. Semin Thromb Hemost. 2009;35:382-9.
58. Spreafico M, Peyvandi F. Combined factor V and factor VIII deficiency. Semin Thromb Hemost. 2009;35:390-9.
59. Mariani G, Bernardi F. Factor VII deficiency. Semin Thromb Hemost. 2009;35:400-6.
60. Mariani G, Herrmann FH, Dolce A, Batorova A, Etro D, Peyvandi F, et al. International Factor VII Deficiency Study Group. Clinical phenotypes and factor VII genotype in congenital factor VII deficiency. Thromb Haemost. 2005; 93:481-7. (Pubitemid 40392536)
61. Lapecorella M, Mariani G; International Registry on Congenital Factor VII Deficiency. Factor VII deficiency: defining the clinical picture and optimizing therapeutic options. Haemophilia. 2008;14:1170-5.
62. Girolami A, Scandellari R, Lombardi AM. The use of tissue thromboplastins of different origin is a fundamental tool in the initial characterization of FVII defects on 'factor VII deficiency (Semin Thromb Hemost 2009;35(4):400-406) '. Semin Thromb Hemost. 2010;36:123-4; author reply 125-7.
63. Brenner B, Kuperman AA, Watzka M, Oldenburg J. Vitamin K-dependent coagulation factors deficiency. Semin Thromb Hemost. 2009;35:439-46.
64. Wada H, Usui M, Sakuragawa N. Hemostatic abnormalities and liver diseases. Semin Thromb Hemost. 2008;34:772-8.
65. Menegatti M, Peyvandi F. Factor X deficiency. Semin Thromb Hemost. 2009;35:407-15.
66. Duga S, Salomon O. Factor XI deficiency. Semin Thromb Hemost. 2009;35:416-25.
67. Stavrou E, Schmaier AH. Factor XII: what does it contribute to our understanding of the physiology and pathophysiology of hemostasis & thrombosis. Thromb Res. 2010;125:210-5.
68. Lippi G, Franchini M, Brazzarola P, Manzato F. Preoperative screening: the rationale of measuring APTT in risk assessment. Haematologica. 2001;86:328. (Pubitemid 32291078)
69. Karimi M, Bereczky Z, Cohan N, Muszbek L. Factor XIII deficiency. Semin Thromb Hemost. 2009;35:426-38.