Von Willebrand's disease in the year 2003: Towards the complete identification of gene defects for correct diagnosis and treatment

Haematologica

Volumn 88, Issue 1, 2003, Pages 94-108

  Castaman, Giancarlo ^a   Federici, Augusto B ^b   Rodeghiero, Francesco ^a   Mannucci, Pier Mannuccio ^c  

^a SAN BORTOLO HOSPITAL   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c NONE

Author keywords

Congenital von Willebrand's disease; Desmopressin; Factor VIII von Willebrand factor concentrates; Genetic and molecular diagnosis; Von Willebrand factor

Indexed keywords

ALPHATHER; AMINO ACID; AMINOCAPROIC ACID; ANTIFIBRINOLYTIC AGENT; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 CONCENTRATE; DESMOPRESSIN; EMOCLOT; EMOSINT; ESTROGEN; FANHDI; RECOMBINANT BLOOD CLOTTING FACTOR 8; TRANEXAMIC ACID; VON WILLEBRAND FACTOR;

ARTICLE; AUTOSOMAL INHERITANCE; BLEEDING DISORDER; BLEEDING TIME; BLOOD CLOTTING; BLOOD CLOTTING FACTOR DEFICIENCY; BLOOD TRANSFUSION; CELL INTERACTION; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DRUG CHOICE; DRUG EFFICACY; DRUG SAFETY; FLUSHING; GENE MUTATION; GENETIC SCREENING; HEADACHE; HEART INFARCTION; HEMOSTASIS; HUMAN; PHENOTYPE; SIDE EFFECT; STROKE; TACHYCARDIA; THROMBOCYTE ADHESION; THROMBOCYTOPENIA; VON WILLEBRAND DISEASE;

DEAMINO ARGININE VASOPRESSIN; FACTOR VIII; HEMOSTASIS; HUMANS; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 12244272130     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (104)

1. Lee CA, Kessler CM. Proceedings of a Nordic von Willebrand symposium. Haemophilia 1999;5 Suppl 2.
2. Mancuso DJ, Tuley EA, Westfield LA, Lester-Mancuso TL, Le Beau MM, Sorace JM, et al. Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction. Biochemistry 1991;30:253-69.
3. Goodeve A, Eikenboom JC, Ginsburg D, Hilbert L, Mazurier C, Peake IR, et al. A standard nomenclature for von Willebrand factor gene mutations and polymorphisms. On behalf of the ISTH SSC Subcommittee on von Willebrand factor. Thromb Haemost 2001;85:929-31.
4. Fowler WE, Fretto LJ, Electron microscopy of von Willebrand factor. In: Zimmerman TS, Ruggeri ZM, editors. Coagulation and bleeding disorders. The role of factor VIII and von Willebrand factor. New York: Marcel Dekker;1989. p. 181-93.
5. Wagner DD. Cell biology of von Willebrand factor. Annu Rev Cell Biol 1990;6:217-46.
6. Furlan M, Robles R, Lamie B. Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis. Blood 1996;87:4223-34.
7. Ruggeri ZM. Structure of von Willebrand factorand its function in platelet adhesion and thrombus formation. Best Pract Res Clin Haematol 2001;14:257-79.
8. Ruggeri ZM. Old concepts and new developments in the study of platelet aggregation. J Clin Invest 2000;105:699-701.
9. Viot AJ, Koppelman SJ, Bouma BN, Sixma JJ. Factor VIII and von Willebrand factor. Thromb Haemost 1998;79:456-65.
10. Sadler JE. A revised classification of von Willebrand disease. For the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 1994;71:520-3.
11. Mazurier C. von Willebrand disease masquerading as haemophilia A. Thromb Haemost 1992;67:391-6.
12. Nichols WC, Ginsburg D. von Willebrand disease. Medicine 1997;76:1-20.
13. Meyer D, Fressinaud E, Hilbert L, Ribba AS, Lavergne JM, Mazurier C. Type 2 von Willebrand disease causing defective von Willebrand factor-dependent platelet function. Best Pract Res Clin Haematol 2001;14:349-64.
14. Lyons SE, Bruck ME, Bowie EJ, Ginsburg D. Impaired intracellular transport produced by a subset of type IIA von Willebrand disease mutations. J Biol Chem 1992;267:4424-30.
15. Schneppenheim R, Federici AB, Budde U, Castaman G, Drewke E, Krey S, et al. von Willebrand Disease type 2M "Vicenza" in Italian and German patients: identification of the first candidate mutation (G3864A;R1205H) in 8 families. Thromb Haemost 2000;83:136-40.
16. Castaman G, Missiaglia E, Federici AB, Schneppenheim R, Rodeghiero F. An additional unique candidate mutation (G2470A;M7401) in the original families with von Willebrand disease type 2 M Vicenza and the G3864A (R1205H) mutation. Thromb Haemost 2000;84:350-1.
17. Mazurier C, Goudemand J, Hilbert L, Caron C, Fressinaud E, Meyer D. Type 2N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology. Best Pract Res Clin Haematol 2001;14:337-47.
18. Eikenboom JC, Reitsma PH, Peerlinck KM, Briet E. Recessive inheritance of von Willebrand's disease type 1. Lancet 1993;341:982-6.
19. Eikenboom JC, Matsushita T, Reitsma PH, Tuley EA, Castaman G, Briet E, et al. Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor. Blood 1996;88:2433-41.
20. Castaman G, Eikenboom JC, Missiaglia E, Rodeghiero F. Autosomal dominant type 1 von willebrand disease due to G3639T mutation (C1130F) in exon 26 of von Willebrand factor gene: description of five Italian families and evidence for a founder effect. Br J Haematol 2000;108:876-9.
21. Eikenboom JC, Castaman G, Vos HL, Bertina RM, Rodeghiero F. Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin. Thromb Haemost 1998;79:709-17.
22. Castaman G, Eikenboom JC, Bertina RM, Rodeghiero F. Inconsistency of association between type 1 von Willebrand disease phenotype and genotype in families identified in an epidemiological investigation. Thromb Haemost 1999;82:1065-70.
23. Mohlke KL, Ginsburg D. von Willebrand disease and quantitative variation in von Willebrand factor. J Lab Clin Med 1997;130:252-61.
24. Orstavik KH, Magnus P, Reisner H, Berg K, Graham JB, Nance W. 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 1985;37:89-101.
25. Gill JC, Endres-Brooks J, Bauer PJ, Marks WJ, Montgomery RR. The effect of ABO blood group on the diagnosis of von Willebrand disease. Blood 1987;69:1691-5.
26. Nichols WC, Cooney KA, Mohlke KL, Ballew JD, Yang A, Bruck ME, et al. von Willebrand disease in the RIIIS/J mouse is caused by a defect outside of the von Willebrand factor gene. Blood 1994;83:3225-31.
27. Eikenboom JC. Congenital von Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology. Best Pract Res Clin Haematol 2001;14:365-79.
28. Baronciani L, Cozzi G, Canciani MT, Peyvandi F, Srivastava A, Federici AB, et al. Molecular characterization of a multiethnic group of 21 patients with type 3 von Willebrand disease. Thromb Haemost 2000;84:536-40.
29. Bloom AL. The von Willebrand syndrome. Semin Hematol 1980;17:215-27.
30. Bachmann F. Diagnostic approach to mild bleeding disorders. Semin Hematol 1980;17:292-305.
31. Nillson IM. Von Willebrand disease from 1926 to 1983. Scand J Haematol 1984;33 Suppl 40:21-43.
32. Bloom AL, Giddins JC. HIV infection and AIDS in von Willebrand's disease. An international survey including data on the prevalence of clinical von Willebrand's disease. In: Lusher JM, Kessler CM, editors. Hemophilia and von Willebrand's disease in 1990s. Elsevier Science Publ.;1991. p. 405-11.
33. Sadler JE, Mannucci PM, Berntorp E, Bochkov N, Boulyjenkov V, Ginsburg D, et al. Impact, diagnosis and treatment of von Willebrand disease. Thromb Haemost 2000;84:160-74.
34. Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand's disease. Blood 1987;69:454-9.
35. Rodeghiero F, Castaman G, Tosetto A. von Willebrand factor antigen is less sensitive than ristocetin cofactor for the diagnosis of type I von Willebrand disease: results based on an epidemiological investigation. Thromb Haemost 1990;64:349-52.
36. Miller CH, Lenzi R, Breen C. Prevalence of von Willebrand's disease among US adults. Blood 1987;70 (Suppl 1):377 [abstract].
37. Meriane F, Sultan Y, Arabi H, et al. Incidence of a low von Willebrand factor activity in a population of Algerian students. Blood 1991;78 Suppl 1:484[abstract].
38. 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.
39. Tuddenham EG. von Willebrand factor and its disorders: an overview of recent molecular studies. Blood Rev 1989;3:251-62.
40. Lenk H, Nilsson IM, Holmberg L, Weissbach G. Frequency of different types of von Willebrand's disease in the GDR. Acta Med Scand 1988;224:275-80.
41. Hoyer LW, Rizza CR, Tuddenham EG, Carta CA, Armitage H, Rotblat F. Von Willebrand factor multimer patterns in von Willebrand's disease. Br J Haematol 1983;55:493-507.
42. Awidi AS. A study of von Willebrand's disease in Jordan. Ann Hematol 1992;64:299-302.
43. Berliner SA, Seligsohn U, Zivelin A, Zwang E, Sofferman G. A relatively high frequency of severe (type III) von Willebrand's disease in Israel. Br J Haematol 1986;62:535-43.
44. Federici AB, Canciani MT, Baronciani L, Castaldo M, Cozzi G, Forza I, et al. Distribution of the von Willebrand disease types in 316 patients followed by a single Hemophilia Center since 1992: a reappraisal of type 1 versus type 2M diagnosis after 10 years. The Hematology Journal 2002;3 Suppl 2:172 [abstract 0572].
45. Kadir RA, Economides DL, Sabin CA, Owens D, Lee CA. Frequency of inherited bleeding disorders in women with menorrhagia. Lancet 1998;351:485-9.
46. Kouides PA. Females with von Willebrand disease: 72 years as the silent majority. Haemophilia 1998;4:665-76.
47. Castaman G, Eikenboom JC, Contri A, Rodeghiero F. Pregnancy in women with type 1 von Willebrand disease caused by heterozygosity for von Willebrand factor mutation C1130F. Thromb Haemost 2000;84:351-2.
48. 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.
49. Silwer J, von Willebrand's disease in Sweden. Acta Paediatr Scand 1973;Suppl 238:1-159.
50. Federici AB, Castaman G, Mannucci PM. Guidelines for the diagnosis and management of von Willebrand disease in Italy. Italian Association of Hemophilia Centers (AICE). Haemophilia 2002;8:607-21.
51. Mannucci PM, Lombardi R, Bader R, Vianello L, Federici AB, Solinas S, et al. Heterogeneity of type I von Willebrand disease: evidence for a subgroup with an abnormal von Willebrand factor. Blood 1985;66:796-802.
52. Cejka J. Enzyme immunoassay for factor VIII-related antigen. Clin Chem 1982;28:1356-8.
53. 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.
54. Murdock PJ, Woodhams BJ, Matthews KB, Pasi KJ, Goodall AH. von Willebrand factor activity detected in a monoclonal antibody-based ELISA: an alternative to the ristocetin cofactor platelet agglutination assay for diagnostic use. Thromb Haemost 1997;78:1272-7.
55. Preston FE. Assays for von Willebrand factor functional activity: a UK NEQAS survey. National External Quality Assessment Scheme. Thromb Haemost 1998;80:863.
56. Vanhoorelbeke K, Cauwenberghs N, Vauterin S, Schlammadinger A, Mazurier C, Deckmyn H. A reliable and reproducible ELISA method to measure ristocetin cofactor activity of von Willebrand factor. Thromb Haemost 2000;83:107-13.
57. Ruggeri ZM, Pareti FI, Mannucci PM, Ciavarella N, Zimmerman TS. Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand's disease. N Engl J Med 1980;302:1047-51.
58. Fressinaud E, Veyradier A, Truchaud F, Martin I, Boyer-Neumann C, Trossaert M, 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.
59. Cattaneo M, Federici AB, Lecchi A, Agati B, Lombardi R, Stabile F, 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.
60. Favaloro EJ, Grispo L, Dinale A, Berndt M, Koutts J. von Willebrand's disease: laboratory investigation using an improved functional assay for von Willebrand factor. Pathology 1993;25:152-8.
61. Favaloro EJ, Collagen binding assay for von Willebrand factor (VWF:CBA): detection of von Willebrands Disease (VWD), and discrimination of VWD subtypes, depends on collagen source. Thromb Haemost 2000;83:127-35.
62. Federici AB, Canciani MT, Forza I, Cozzi G. Ristocetin cofactor and collagen binding activities normalized to antigen levels for a rapid diagnosis of type 2 von Willebrand disease: single center comparison of four different assays. Thromb Haemost 2000;84:1127-8.
63. Federici AB, Mannucci PM. Optimizing therapy with factor VIII/von Willebrand factor concentrates in von Willebrand disease. Haemophilia 1998;4 Suppl 3:7-10.
64. Mannucci PM, Federici AB. Management of inherited von Willebrand disease. Best Pract Res Clin Haematol 2001;14:455-62.
65. Cash JD, Gader AM, da Costa J. Proceedings: The release of plasminogen activator and factor VIII to lysine vasopressin, arginine vasopressin, 1-desamino-8-d-arginine vasopressin, angiotensin and oxytocin in man. Br J Haematol 1974;27:363-4.
66. Hashemi S, Palmer DS, Aye MT, Ganz PR. Platelet-activating factor secreted by DDAVP-treated monocytes mediates von Willebrand factor release from endothelial cells. J Cell Physiol 1993;154:496-505.
67. Mannucci PM, Ruggeri ZM, Pareti FI, Capitanio A. 1-Deamino-8-d-arginine vasopressin: a new pharmacological approach to the management of haemophilia and von Willebrands' diseases. Lancet 1977;1:869-72.
68. Rodeghiero F, Castaman G, Mannucci PM. Clinical indications for desmopressin (DDAVP) in congenital and acquired von Willebrand disease. Blood Rev 1991;5:155-61.
69. 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.
70. Mannucci PM, Bettega D, Cattaneo M. Patterns of development of tachyphylaxis in patients with haemophilia and von Willebrand disease after repeated doses of desmopressin (DDAVP). Br J Haematol 1992;82:87-93.
71. 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.
72. Smith TJ, Gill JC, Ambruso DR, Hathaway WE. Hyponatremia and seizures in young children given DDAVP. Am J Hematol 1989;31:199-202.
73. Bond L, Bevan D. Myocardial infarction in a patient with hemophilia treated with DDAVP. N Engl J Med 1988;318:121.
74. Byrnes JJ, Larcada A, Moake JL. Thrombosis following desmopressin for uremic bleeding. Am J Hematol 1988;28:63-5.
75. Rodeghiero F, Castaman G, Di Bona E, Ruggeri M, Lombardi R, Mannucci PM. Hyper-responsiveness to DDAVP for patients with type I von Willebrand's disease and normal intra-platelet von Willebrand factor. Eur J Haematol 1988;40:163-7.
76. Gralnick HR, Williams SB, McKeown LP, Rick ME, Maisonneuve P, Jenneau C, et al. DDAVP in type Ila von Willebrand's disease. Blood 1986;67:465-8.
77. Holmberg L, Nilsson IM, Borge L, Gunnarsson M, Sjorin 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.
78. Castaman G, Rodeghiero F. Desmopressin and type II B von Willebrand disease. Haemophilia 1996;2:73-6.
79. Castaman G, Eikenboom JC, Rodeghiero F, Briet E, Reitsma PH. A novel candidate mutation (Arg 611→His) in type 1 "platelet discordant" von Willebrand's disease with desmopressin-induced thrombocytopenia. Br J Haematol 1995;89:656-9.
80. Mazurier C, Gaucher C, Jorieux S, Goudemand M. Biological effect of desmopressin in eight patients with type 2N ('Normandy') von Willebrand disease. Collaborative Group. Br J Haematol 1994;88:849-54.
81. Castaman G, Lattuada 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.
82. Rodeghiero F, Castaman G, Meyer D, Mannucci PM. Replacement therapy with virus-inactivated plasma concentrates in von Willebrand disease. Vox Sang 1992;62:193-9.
83. Burnouf-Radosevich M, Burnouf T. Chromatographic preparation of a therapeutic highly purified von Willebrand factor concentrate from human cryoprecipitate. Vox Sang 1992;62:1-11.
84. Meriane F, Zerhouni L, Djeha N, Meriane F, Zerhouni L, Djeha N. Biological effects of a S/D-treated, very high purity, von Willebrand factor concentrate in five patients with severe von Willebrand disease. Blood Coagul Fibrinolysis 1993;4:1023-9.
85. 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.
86. Berntorp E, Nilsson IM. Use of a high-purity factor VIII concentrate (Hemate P) in von Willebrand's disease. Vox Sang 1989;56:212-7.
87. Hanna WT, Bona RD, Zimmerman CE, Carta CA, Hebert GZ, Rickles FR, et al. The use of intermediate and high purity factor VIII products in the treatment of von Willebrand disease. Thromb Haemost 1994;71:173-9.
88. Kreuz W, Mentzer D, Becker S, Scharrer I, Kornhuber B. Haemate P in children with von Willebrand's disease. Haemostasis 1994;24:304-10.
89. Cornu P, Larrieu MJ, Caen J, et al. Transfusion studies in von Willebrand disease: effect on bleeding time and factor VIII. Br J Haematol 1963;9:189-202.
90. Koster T, Blann AD, Briet E, Vandenbroucke JP, Rosendaal FR. Role of clotting factor VIII in effect of von Willebrand factor on occurrence of deep-vein thrombosis. Lancet 1995;345:152-5.
91. Kraaijenhagen RA, in't Anker PS, Koopman MM, Reitsma PH, Prins MH, van den Ende A, et al. High plasma concentration of factor VIIIc is a major risk factor for venous thromboembolism. Thromb Haemost 2000;83:5-9.
92. Kyrle PA, Minar E, Hirschl M, Bialonczyk C, Stain M, Schneider B, et al. High plasma levels of factor VIII and the risk of recurrent venous thromboembolism. N Engl J Med 2000;343:457-62.
93. Mannucci PM, Chediak J, Hanna W, Byrnes J, Ledford M, Ewenstein BM, 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.
94. 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.
95. Mannucci PM. Venous thromboembolism in von Willebrand disease. Thromb Haemost 2002;88:378-9.
96. 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.
97. Mannucci PM, Lattuada A, Ruggeri ZM. Proteolysis of von Willebrand factor in therapeutic plasma concentrates. Blood 1994;83:3018-27.
98. Cattaneo M, Moia M, Delle Valle P, Castellana P, Mannucci PM. DDAVP shortens the prolonged bleeding times of patients with severe von Willebrand disease treated with cryoprecipitate. Evidence for a mechanism of action independent of released von Willebrand factor. Blood 1989;74:1972-5.
99. 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.
100. 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;57:25-31.
101. Mannucci PM, Federici B. In: Aledort LM, Hoyer LW, Lusher JM, Reisner HM, White GC, eds. Inhibitors to coagulation factors. New York: Plenum Press;1995. pp. 87-92.
102. Shelton-Inloes BB, Chehab FF, Mannucci PM, Federici AB, Sadler JE. Gene deletions correlate with the development of alloantibodies in von Willebrand disease. 1987;79:1459-65.
103. Mannucci PM, Tamaro G, Narchi G, Candotti G, Federici A, Altieri D, 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.
104. Bergamaschini L, Mannucci PM, Federici AB, Coppoia R, Guzzoni S, Agostoni A. Posttransfusion anaphylactic reactions 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.