Treatment of von Willebrand's disease

New England Journal of Medicine

Volumn 351, Issue 7, 2004, Pages 683-694+730

  Mannucci, Pier Mannuccio ^a,b  

^a UNIVERSITY OF MILAN   (Italy)

^b NONE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; AMINOCAPROIC ACID; ANTIFIBRINOLYTIC AGENT; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 CONCENTRATE; DESMOPRESSIN; ESTROGEN; FRESH FROZEN PLASMA; GESTAGEN; IMMUNOGLOBULIN; RECOMBINANT BLOOD CLOTTING FACTOR 8; RISTOCETIN; TRANEXAMIC ACID; VON WILLEBRAND FACTOR; WILFACTIN; ALLOANTIBODY; AMINOCAPROIC ACID DERIVATIVE; ARGIPRESSIN[1 DEAMINO];

BLEEDING; DELIVERY; DISEASE CLASSIFICATION; DRUG COST; DRUG EFFICACY; DRUG MECHANISM; HEADACHE; HEART INFARCTION; HOT FLUSH; HUMAN; HYPONATREMIA; INHERITANCE; LABORATORY DIAGNOSIS; MENORRHAGIA; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SEIZURE; TACHYCARDIA; VON WILLEBRAND DISEASE; BLOOD COMPONENT THERAPY; CHEMISTRY; CLASSIFICATION; FEMALE; HEMOPHILIA A; HEMOSTASIS; PATHOPHYSIOLOGY; PHYSIOLOGY; PLASMA; PREGNANCY; PREGNANCY COMPLICATION;

AMINOCAPROIC ACIDS; BLOOD COMPONENT TRANSFUSION; DEAMINO ARGININE VASOPRESSIN; FACTOR VIII; FEMALE; HEMOPHILIA A; HEMOSTASIS; HUMANS; ISOANTIBODIES; MENORRHAGIA; PHENOTYPE; PLASMA; PREGNANCY; PREGNANCY COMPLICATIONS, HEMATOLOGIC; TRANEXAMIC ACID; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 3943048700     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJMra040403     Document Type: Review

References (105)

1. Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand's disease. Blood 1987;69:454-9.
2. Werner EJ, Broxson EH, Tucker EL, Giroux DS, Shults J, Abshire TC. Prevalence of von Willebrand disease in children: a multiethnic study. J Pediatr 1993;123:893-8.
3. Hoyer LW, Shainoff JR. Factor VIII-related protein circulates in normal human plasma as high molecular weight multimers. Blood 1980;55:1056-9.
4. TitaniK, Kumar S, Takio K, et al. Amino acid sequence of human von Willebrand factor. Biochemistry 1986;25:3171-84.
5. Ginsburg D, Handin RI, Bonthron DT, et al. Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization. Science 1985;228:1401-6.
6. Mancuso DJ, Tuley EA, Westfield LA, et al. Structure of the gene for human von Willebrand factor. J Biol Chem 1989;264:19514-27.
7. Sadler JE, Biochemistry and genetics of von Willebrand factor. Annu Rev Biochem 1998;67:395-424.
8. Jaffe EA, Hoyer LW, Nachman RL. Synthesis of von Willebrand factor by cultured human endothelial cells. Proc Natl Acad Sci U S A 1974;71:1906-9.
9. Nachman R, Levine R, Jaffe EA. Synthesis of factor VIII antigen by cultured guinea pig megakaryocytes. J Clin Invest 1977;60:914-21.
10. Weiss HJ, Sussman II, Hoyer LW. Stabilization of factor VIII in plasma by the von Willebrand factor: studies on posttransfusion and dissociated factor VIII and in patients with von Willebrand's disease. J Clin Invest 1977;60:390-404.
11. Wise RJ, Dorner AJ, Krane M, Pittman DD, Kaufman RJ. The role of von willebrand factor multimers and propeptide cleavage in binding and stabilization of factor VIII. J Biol Chem 1991;266:21948-55.
12. Silwer J. von Willebrand's disease in Sweden. Acta Paediatr Scand Suppl 1973;238:1-159.
13. Lak M, Peyvandi F, Mannucci PM. Clinical manifestations and complications of childbirth and replacement therapy in 385 Iranian patients with type 3 von Willebrand disease. Br J Haematol 2000;111:1236-9.
14. Foster PA. The reproductive health of women with von Willebrand disease unresponsive to DDAVP: results of an international survey. Thromb Haemost 1995;74:784-90.
15. Sadler JE. A revised classification of von Willebrand disease. Thromb Haemost 1994;71:520-5.
16. Italian Working Group. Spectrum of von Willebrand disease: a study of 100 cases. Br J Haematol 1977;35:101-12.
17. Keeney S, Cumming AM. The molecular biology of von Willebrand disease. Clin Lab Haematol 2001;23:209-30.
18. Nilsson IM, Blomback M, Blomback B. V. Willebrand's disease in Sweden: its pathogenesis and treatment. Acta Med Scand 1959;164:263-78.
19. Zimmerman TS, Ratnoff OD, Powell AE. Immunologic differentiation of classic hemophilia (factor 8 deficiency) and von Willebrand's disease, with observations on combined deficiencies of antihemophilic factor and proaccelerin (factor V) and on an acquired circulating anticoagulant against antihemophilic factor. J Clin Invest 1971;50:244-54.
20. Weiss HJ, Hoyer LW, Rickles FR, Varma A, Rogers J. Quantitative assay of a plasma factor deficient in von Willebrand's disease that is necessary for platelet aggregation: relationship to factor VIII procoagulant activity and antigen content. J Clin Invest 1973;52:2708-16.
21. Macfarlane DE, Stibbe J, Kirby EP, Zucker MB, Grant RA, McPherson J. A method for assaying von Willebrand factor (ristocetin cofactor). Thromb Diath Haemorrh 1975;34:306-8.
22. Favaloro EJ, Grispo L, Exner T, Koutts J. Development of a simple collagen based ELISA assay aids in the diagnosis of, and permits sensitive discrimination between type I and type II, von Willebrand's disease. Blood Coagul Fibrinolysis 1991;2:285-91.
23. Brown JE, Bosak JO. An ELISA test for the binding of von Willebrand antigen to collagen. Thromb Res 1986;43:303-11.
24. Nishino M, Girma JP, Rothschild C, Fressinaud E, Meyer D. New variant of von Willebrand disease with defective binding to factor VIII. Blood 1989;74:1591-9.
25. Ruggeri ZM, Zimmerman TS. Variant von Willebrand's disease: characterization of two subtypes by analysis of multimeric composition of factor VIII/von Willebrand factor in plasma and platelets. J Clin Invest 1980;65:1318-25.
26. Ruggeri ZM, Zimmerman TS. The complex multimeric composition of factor VIII/von Willebrand factor. Blood 1981;57:1140-3.
27. Fressinaud E, Veyradier A, Truchaud F, et al. Screening for von Willebrand disease with a new analyzer using high shear stress: a study of 60 cases. Blood 1998;91:1325-31.
28. Cattaneo M, Federici AB, Lecchi A, et al. Evaluation of the PFA-100 system in the diagnosis and therapeutic monitoring of patients with von Willebrand disease. Thromb Haemost 1999;82:35-9.
29. Biron C, Mahieu B, Rochette A, et al. Preoperative screening for von Willebrand disease type 1: low yield and lilimited ability to predict bleeding. J Lab Clin Med 1999;134:605-9.
30. Mannucci PM, Tuddenham EG. The hemophihas-from royal genes to gene therapy. N Engl J Med 2001;344:1773-9. [Erratum, N Engl J Med 2001;345:384.]
31. Mannucci PM, Tuddenham EG. The hemophihas-from royal genes to gene therapy. N Engl J Med 2001;344:1773-9. [Erratum, N Engl J Med 2001;345:384.]
32. Biggs R, Matthews JM, The treatment of haemorrhage in von Willebrand's disease and the blood levels of factor VIII (AHG). Br J Haematol 1963;9:203-14.
33. Larrieu MJ, Caen JP, Meyer DO, Vainer H, Sultan Y, Bernard J. Congenital bleeding disorders with long bleedingj time and normal platelet count. II. Von Willebrand's disease (report of thirty-seven patients). Am J Med 1968;45:354-72.
34. Green D, Potter EV. Failure of AHF concentration to control bleeding in von Willebrand's disease. Am J Med 1976;60:357-60.
35. Blatt PM, Brinkhous KM, Culp HR, Krauss JS, Roberts HR. Antihemophilic factor concentrate therapy in von Willebrand disease: dissociation of bleeding-time factor and ristocetin-cofactor activities. JAMA 1976;236:2770-2.
36. Mannucci PM, Ruggeri ZM, Ciavarella N, Kazatchkine MD, Mowbray JF. Precipitating antibodies to factor VIII/von Willebrand factor in von Willebrand's disease: effects on replacement therapy. Blood 1981;57:25-311
37. Mannucci PM, Aberg M, Nilsson IM, Robertson B. Mechanism of plasminogen activator and factor VIII increase after vasoactive drugs. Br J Haematol 1975;30:81-93.
38. Mannucci PM, Ruggeri ZM, Pareti FI, Capitanio AM. 1-Deamin-8-d-arginine vasopressin: a new pharmacological approach to the management of haemophilia and von Willebrand's disease. Lancet 1977;1:869-72.
39. Kaufmann JE, Oksche A, Wollheim CB, Gunther G, Rosenthal W, Vischer UM. Vasopressin-induced von Willebrand factor secretion from endothelial cells involves V2 receptors and cAMP. J Clin Invest 2000;106:107-16.
40. Mannucci PM, Canciani MT, Rota L, Donovan BS. Response of factor VIII/von Willebrand factor to DDAVP in healthy subjects and patients with haemophilia A and von Willebrand's disease. Br J Haematol 1981;47:283-93.
41. Mannucci PM, Bettega D, Cattaneo M. Patterns of development of hyphylaxis in patients with haemophilia and von Willebrand disease after repeated doses of desmopressin (DDAVP). Br J Hematol 1992;82:87-93.
42. Rodeghiero F, Castaman G, Di Bona E, Ruggeri M. Consistency of responses to repeated DDAVP infusions in patients with von Willebrand's disease and hemophilia A. Blood 1989;74:1997-2000.
43. Federici AB, Mazurier C, Berntorp E, et al. Biological response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: results of a multicenter European study. Blood 2004;103:2032-8.
44. Mannucci PM, Lombardi R, Bader R, et al. Heterogeneity of type I von Willebrand disease: evidence for a subgroup with an abnormal von Willebrand factor. Blood 1985;66:796-802.
45. Ruggeri ZM, Mannucci PM, Lombardi R, Federici AB, Zimmerman TS. Multimeric composition of factor VIII/von Willebrand factor following administration of DDAVP: implications for pathophysiology and therapy of von Willebrand's disease subtypes. Blood 1982;59:1272-8.
46. Holmberg L, Nilsson IM, Borge L, Gunnarsson M, Sjörin E. Platelet aggregation induced by 1-desamino-8-D-arginine vasopressin (DDAVP) in type IIb von Willebrand's disease. N Engl J Med 1983;309:816-21.
47. Mannucci PM, Lombardi R, Castaman G, et al. Von Willebrand disease "Vicenza" with larger-than-normal (supranormal) von Willebrand factor multimers. Blood 1988;71:65-70.
48. Mazurier C, Gaucher C, Jorieux S, Goudemand M. Biological effect of desmoipressin in eight patients with type 2N ('Normandy') von Willebrand disease. Br J Haematol 1994;88:849-54.
49. Castaman G, Latmada A, Mannucci PM, Rodeghiero F. Factor VIII:C increases after desmopressin in a subgroup of patients with autosomal recessive severe von Willebrand disease. Br J Haematol 1995;89:147-51.
50. Smith TJ, Gill JC, Ambruso DR, Hathaway WE. Hyponatremia and seizures in young children given DDAVP. Am J Hematol 1989;31:199-202.
51. Bond L, Bevan D. Myocardial infarction in a patient with hemophilia treated with DDAVP. N Engl J Med 1988;318:121.
52. Byrnes JJ, Larcada A, Moake JL. Thrombosis following desmopressin for uremic bleeding. Am J Hematol 1988;28:63-5.
53. Moake JL, Tumer NA, Stathopoulos NA, Nolasco LH, Hellums JD. Involvement of large plasma von Willebrand factor (vWF) multimers and unusually large vWF forms derived from endothetial cells in shear stress-induced platelet aggregation. J Clin Invest 1986;78:1456-61.
54. Idem. Shear-induced platelet aggregation can be mediated by vWF released from platelets, as well as by exogenous large or unusually large vWF multimers, requires adeniosine diphosphate, and is resistant to aspirin. Blood 1988;71:1366-74.
55. Perkins HA. Correction of the hemostatic defects in von Willebrand's disease. Blood 1967;30:375-80.
56. Dobrkovska A, Krzensk U, Chediak JR. Pharmacokinetics, efficacy and safety of Humate-P in von Willebrand disease. Haemophilia 1998;4:Suppl 3:33-9.
57. Lillicrap D, Poon MC, Walker I, Xie F, Schwartz BA. Efficacy and safety of the factor VIII/von Willebrand factor concentrate, Haemate-P/Humate-P: ristocetin cofactor unit dosing in patients with von Willebrand disease. Thromb Haemost 2002;87:224-30.
58. Gill CJ, Ewenstein BM, Thompson AR, Mueller-Velten G, Schwartz BA. Successful treatment of urgent bleeding in von Willebrand disease with factor VIII/VWF concentrate (Humate-P): use of ristocetin factor assay (VWF:RCo) to measure potency and to guide therapy. Haemophilia 2003;9:688-95.
59. Thompson AR, Gill JC, Ewenstein BM, Mueller-Velten G, Schwartz BA. Successful treatment for patients with von Willebrand disease undergoing urgent surgery using factor VIII/VWF concentrate (Humate-P). Haemophilia 2004;10:42-51.
60. Mannucci PM, Chediak J, Hanna W, et al. Treatment of von Willebrand disease with a high-purity factor VIII/von Willebrand factor concentrate: a prospective, multicenter study. Blood 2002;99:450-6.
61. Mazurier C, De Romeuf C, Parquet-Gernez A, Goudemand M. In vitro and in vivo characterization of a high-purity, solvent/detergent treated factor VIII concentrate: evidence for its therapeutic efficacy in von Willebrand's disease. Eur J Haematol 1990;75:228-33.
62. Pasi KJ, Williams MD, Enayat MS, Hill FGH. Clinical and laboratory evaluation of the treatment of von Willebrand's disease patients with heat treated factor VIII concentrate (BPL 8Y). Br J Haematol 1990;75:228-33.
63. Lethagen S, Berntorp E, Nilsson IM. Pharmacokinetics and hemostatic effect of different factor VIII/von Willebrand factor concentrates in von Willebrand's disease type III. Ann Hematol 1992;65:253-9.
64. Hanna WT, Bona RD, Zimmerman CE, Carta CA, Hebert GZ, Rickles FR. The use of intermediate and high purity factor VIII products in the treatment of von Willebrand disease. Thromb Haemost 1994;71:173-9.
65. Morfini M, Mannucci PM, Tenconi PM, et al. Pharmacokinetics of monoclonallypurified and recombinant factor VIII in patients with severe von Willebrand disease. Thromb Haemost 1993;70:270-2.
66. Menache D, Aronson DL, Darr F, et al. Pharmacoldnetics of von Willebrand factor and factor VIIIC in patients with severe von Willebrand disease (type 3 VWD): estimation of the rate of factor VIIIC synthesis. Br J Haematol 1996;94:740-5.
67. Goudemand J, Negrier C, Ounnoughene N, Sultan Y. Clinical management of patients with von Willebrand's disease with a VHP vWF concentrate: the French experience. Haemophilia 1998;4:Suppl 3:48-52.
68. Mannucci PM, Tenconi PM, Castaman G, Rodeghiero F. Comparison of four virus-inactivated plasma concentrates for treatment of severe von Willebrand disease: a cross-over randomized trial. Blood 1992;79:3130-7.
69. Mannucci PM, Latmada A, Ruggeri ZM. Proteolysis of von Willebrand factor in therapeutic plasma concentrates. Blood 1994;83:3018-27.
70. Chang AC, Rick ME, Ross Pierce L, Weinstein MJ. Summary of a workshop on potency and dosage of von Willebrand factor concentrates. Haemophilia 1998;4;Suppl 3:1-6.
71. Mannucci PM. Venous thromboembolism in von Willebrand disease. Thromb Haemost 2002;88:378-9.
72. Makris M, Colvin B, Gupta V, Shields ML, Smith MP. Venous thrombosis following the use of intermediate purity FVIII concentrate to treat patients with von Willebrand's disease. Thromb Haemost 2002;88:387-8.
73. Mannucci PM, Moia M, Rebulla P, Altieri D, Monteagudo J, Castillo R. Correction of the bleeding time in treated patients with severe von Willebrand disease is not solely dependent on the normal multimeric structure of plasma von Willebrand factor. Am J Hematol 1987;25:55-65.
74. Castillo R, Monteagudo J, Escolar G, Ordinas A, Magallon M, Martin Villar J. Hemostatic effect of normal platelet transfusion in severe von Willebrand disease patients. Blood 1991;77:1901-5.
75. Boda Z, Pfliegler G, Harsfalvi J, Rak K. Treatment of the severe bleeding episode in type III von Willebrand's disease by simultaneous administration of cryoprecipitate and platelet concentrate. Blood Coagul Fibrinolysis 1991;2:775-7.
76. Castillo R, Escolar G, Monteagudo J, Aznar-Salatti J, Reverter JC, Ordinas A. Hemostasis in patients with severe von Willebrand disease improves after normal platelet transfusion and normalizes with further correction of the plasma defect. Transfusion 1997;37:785-90.
77. Ruggeri ZM, Mannucci PM, Bader R, Barbui T. Factor VIII-related properties in platelets from patients with von Willebrand's disease. J Lab Clin Med 1978;91:13240.
78. Mannucci PM. Hemostatic drugs. N Engl J Med 1998;339:245-53.
79. Kadir RA, Economides DL, Sabin CA, Owens D, Lee CA. Frequency of inherited bleeding disorders in women with menorrhagia. Lancet 1998;351:485-9.
80. Dilley A, Drews C, Miller C, et al. Von Willebrand disease and other inherited bleeding disorders in women with diagnosed menorrhagia. Obstet Gynecol 2001;97:630-6.
81. Kadir RA, Economides DL, Sabin CA, Pollard D, Lee CA. Assessment of menstrual blood loss and gynaecological problems in patients with inherited bleeding disorders. Haemophilia 1999;5:40-8.
82. Rose EH, Aledort LM. Nasal spray desmopressin (DDAVP) for mild hemophilia A and von Willebrand disease. Ann Intern Med 1991;114:563-8.
83. Rodeghiero F, Castaman G, Mannucci PM. Prospective multicenter study on subcutaneous concentrated desmopressin for home treatment of patients with von Willebrand disease and mild or moderate hemophilia A. Thromb Haemost 1996;76:692-6.
84. Noller KL, Bowie EJ, Kempers RD, Owen CA Jr. Von Willebrand's disease in pregnancy. Obstet Gynecol 1973;41:865-72.
85. Chediak JR, Alban GM, Maxey B. Von Willebrand's disease and pregnancy: management during delivery and outcome of offspring. Am J Obstet Gynecol 1986;155:618-24.
86. Ramsahoye RH, Davies SV, Dasani H, Pearson JF. Obstetric management in von Willebrand's disease: a report of 24 pregnancies and a review of the literature. Haemophilia. 1995;1:140-4.
87. Conti M, Mari D, Conti E, Muggiasca ML, Mannucci PM. Pregnancy in women with different types of von Willebrand disease. Obstet Gynecol 1986;68:282-5.
88. Kadir RA, Lee CA, Sabin CA, Pollard D, Economides DL. Pregnancy in women with von Willebrand's disease or factor XI deficiency. Br J Obstet Gynaecol 1998;105:314-21.
89. Mannucci PM, Meyer D, Ruggeri ZM, Koutts J, Ciavarella N, Lavergne JM. Precipitating antibodies in von Willebrand's disease. Nature 1976;262:141-2.
90. Mannucci PM, Federici AB. Antibodies to von Willebrand factor in von Willebrand disease. In: Aledort LM, Hoyer LW, Lusher JM, et al., eds. Inhibitors to coagulation factors. New York: Plenum Press, 1995:87-92.
91. Mannucci PM, Tamaro G, Narchi G, et al. Life-threatening reaction to factor VIII concentrate in a patient with severe von Willebrand disease and alloantibodies to von Willebrand factor. Eur J Haematol 1987;39:467-70.
92. Bergamaschini L, Mannucci PM, Federici AB, Coppola R, Guzzoni S, Agostoni A. Posttransfusion anaphylactic reaction in a patient with severe von Willebrand disease: role of complement and alloantibodies to von Willebrand factor. J Lab Clin Med 1995;125:348-55.
93. Boyer-Neumann C, Dreyfus M, WolfM, Veyradier A, Meyer D. Multi-therapeutic approach to manage delivery in an alloimmunized patient with type 3 von Willebrand disease. J Thromb Haemost 2003;1:190-2.
94. Ciavarella N, Schiavoni M, Valenzano E, Mangini F, Inchingolo F. Use of recombinant factor VIIa (NovoSeven) in the treatment of two patients with type HI von Willebrand's disease and an inhibitor against von Willebrand factor. Haemostasis 1996;26:Suppl 1:1504.
95. Grossmann RE, Geisen U, Schwender S, Keller F. Continuous infusion of recombinant factor VIIa (NovoSeven) in the treatment of a patient with type III von Willebrand's disease and alloantibodies against von Willebrand factor. Thromb Haemost 2000;83:633-4.
96. Federici AB, Rand JH, Bucciarelli P, et al. Acquired von Willebrand syndrome; data from an international registry. Thromb Haemost 2000;84:345-9. [Erratum Thromb Haemost 2000;84:739.]
97. Federici AB, Rand JH, Bucciarelli P, et al. Acquired von Willebrand syndrome; data from an international registry. Thromb Haemost 2000;84:345-9. [Erratum Thromb Haemost 2000;84:739.]
98. Vincentelli A, Susen S, Le Tourneau T, et al. Acquired von Willebrand syndrome in aortic stenosis. N Engl J Med 2003;349:343-9.
99. Pareti FI, Lattuada A, Bressi C, et al. Proteolysis of von Willebrand factor and shear stress-induced platelet aggregation in patients with aortic valve stenosis. Circulation 2000;102:1290-5.
100. Federici AB, Stabile F, Castaman G, Canciani MT, Mannucci PM. Treatment of acquired von Willebrand syndrome in patients with monoclonal gammopathy of uncertain significance: comparison of three different therapeutic approaches. Blood 1998;92:2707-11.
101. Schwarz HP, Turecek PL, Pichler L, et al. Recombinantvon Willebrand factor. Thromb Haemost 1997;78:571-6.
102. Turecek PL, Gritsch H, Pichler L, et al. In vivo characterization of recombinant von Willebrand factor in dogs with von Willebrand disease. Blood 1997;90;3555-67.
103. Denis CV, Kwack K, Saffaripour S, et al. Interleukin 11 significantly increases plasma von Willebrand factor and factor VIII in wild type and von Willebrand disease mouse models. Blood 2001;97:465-72.
104. Kaye J, Loewy J, Blume J, et al. Recombinant human interleukin eleven (Neumega rh IL-11 growth factor) increases plasma von Willebrand factor and fibrinogen concentrations in normal human subjects. Blood 1994;84:Suppl:276a. abstract.
105. Olsen EH, McCain AS, Merricks EP, et al. Comparative response of plasma VWF in dogs to up-regulation of VWF mRNA by interieukin-11 versus Weibel-Palade body release by desmopressin (DDAVP). Blood 2003;102:436-41.