Impact, diagnosis and treatment of von Willebrand disease

Thrombosis and Haemostasis

Volumn 84, Issue 2, 2000, Pages 160-174

  Sadler, J E ^a   Mannucci, P M ^a   Berntorp, E ^a   Bochkov, N ^a   Boulyjenkov, V ^a   Ginsburg, D ^a   Meyer, D ^a   Peake, I ^a   Rodeghiero, F ^a   Srivastava, A ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALLOANTIBODY; AMINOCAPROIC ACID; ANTIFIBRINOLYTIC AGENT; BLOOD CLOTTING FACTOR 8; DESMOPRESSIN; FIBRINOGEN RECEPTOR; GLYCOPROTEIN IB; ORAL CONTRACEPTIVE AGENT; TRANEXAMIC ACID; VON WILLEBRAND FACTOR;

ARTICLE; BLOOD CLOTTING; BLOOD TRANSFUSION; FLUSHING; HEADACHE; HEMOSTASIS; HUMAN; HYPONATREMIA; MENORRHAGIA; PRIORITY JOURNAL; TACHYCARDIA; VON WILLEBRAND DISEASE;

EID: 0033858187     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1613992     Document Type: Article

References (185)

1. Shinmyozu K, Okadome T, Maruyama Y, Maruyama I, Osame M, Tara M. A study on the frequency of von Willebrand factor deficiency state. Rinsho Ketsueki - Japanese Journal of Clinical Hematology 1991; 32: 67-8.
2. Cabrera ME, Artigas CG, Paez E, Monsalve V, Zolezzi P, Arauco G, Espinoza R, Hevia C, Villegas J. Von Willebrand disease in the IX Region of Chile. Revista Medica de Chile 1989; 117: 423-30.
3. Bloom AL. The von Willebrand syndrome. Semin Hematol 1980; 17: 215-27.
4. Bachmann F. Diagnostic approach to mild bleeding disorders. Semin Hematol 1980; 17: 292-305.
5. Awidi AS. A study of von Willebrand's disease in Jordan. Ann Hematol 1992; 64: 299-302.
6. Diez-Ewald M, Vizcaino G. Arteaga-Vizcaino M, Fernandez N, Weir-Medina J, Gomez O. Epidemiology of von Willebrand disease in the stale of Zulia, Venezuela. Investigacion Clinica 1991; 32: 187-99.
7. Nilsson IM. In memory of Erik Jorpes. von Willebrand's disease from 1926-1983. Scand J Haematol Suppl 1984; 40: 21-43.
8. The World Health Report 1998, World Health Organization, Geneva.
9. von Willebrand EA. Hereditär pseudohemofili. Fin Laekaresaellsk Hand 1926; 68: 87-112.
10. von Willebrand EA. Über hereditäre pseudohaæmophilic. Acta Med Scand 1931; 76: 521-49.
11. von Willebrand EA, Jürgens R. Über ein neues vererbbares Blutungsübel: Die konstitutionelle Thrombopathie. Dtsch Arch Klin Med 1933; 175: 453-83.
12. Nyman D, Eriksson AW, Blömback M, Frants RR, Wahlberg P. Recent investigations of the first bleeder family in Åland (Finland) described by von Willebrand. Thromb Haemost 1981; 45: 73-6.
13. Antonarakis SE, Group NW. Recommendations for a nomenclature system for human gene mutations. Human Mutation 1998; 11: 1-3.
14. Ginsburg D, Handin RI, Bonthron DT, Donlon TA, Bruns GAP, Latt SA, Orkin SH. Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization. Science 1985; 228: 1401-6.
15. Kuwano A, Morimoto Y, Nagai T, Fukushima Y, Ohashi H, Hasegawa T, Kondo I. Precise chromosomal locations of the genes for dentatorubralpallidoluysian atrophy (DRPLA), von Willebrand factor (F8vWF) and parathyroid hormone-like hormone (PTHLH) in human chromosome 12p by deletion mapping. Hum Genet 1996; 97: 95-8.
16. Mancuso DJ, Tuley EA, Westfield LA, Worrall NK, Shelton-Inloes BB, Sorace JM, Alevy YG, Sadler JE. Structure of the gene for human von Willebrand factor. J Biol Chem 1989; 264: 19514-27.
17. Patracchini P, Calzolari E, Aiello V, Palazzi P, Banin P, Marchetti G, Bernardi F. Sublocalization of von Willebrand factor pseudogene to 22q11.22-q11.23 by in situ hybridization in a 46,X,t(X;22)(pter;q11.21) translocation. Hum Genet 1989; 83: 264-6.
18. Mancusu DJ, Tuley EA, Westfield LA, Lester-Mancuso TL, Le Beau MM, Sorace JM, Sadler JE. Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction. Biochemistry 1991; 30: 253-69.
19. Lynch DC, Zimmerman TS, Collins CJ, Brown M, Morin MJ, Ling EH, Livingston DM. Molecular cloning of cDNA for human von Willebrand factor: authentication by a new method. Cell 1985; 41: 49-56.
20. Sadler JE, Shelton-Inloes BB, Sorace JM, Harlan JM, Titani K, Davie EW. Cloning and characterization of two cDNAs coding for human von Willebrand factor. Proc Natl Acad Sci USA 1985; 82: 6394-8.
21. Verweij CL, de Vries CJ, Distel B, van Zonneveld AJ, van Kessel AG, van Mourik JA, Pannekoek H. Construction of cDNA coding for human von Willebrand factor using antibody probes for colony-screening and mapping of the chromosomal gene. Nucleic Acids Res 1985; 13: 4699-717.
22. Verweij CL, Diergaarde PJ, Hart M, Pannekoek H. Full-length von Willebrand factor (vWF) cDNA encodes a highly repetitive protein considerably larger than the mature vWF subunit. EMBO J 1986; 5: 1839-47.
23. Titani K, Kumar S, Takio K, Ericsson LH, Wade RD, Ashida K, Walsh KA, Chopek MW, Sadler JE, Fujikawa K. Amino acid sequence of human von Willebrand factor. Biochemistry 1986; 25: 3171-84.
24. Shelton-Inloes BB, Titani K, Sadler JE. cDNA sequences for human von Willebrand factor reveal five types of repeated domains and five possible protein sequence polymorphisms. Biochemistry 1986; 25: 3164-71.
25. Fay PJ, Kawai Y, Wagner DD, Ginsburg D, Bonthron D, Ohlsson-Wilhelm BM, Chavin SI, Abraham GN, Handin RI, Orkin SH, Montgomery RR, Marder VJ. Propolypeptide of von Willebrand factor circulates in blood and is identical to von Willebrand antigen II. Science 1986; 232: 995-8.
26. Bonthron DT, Orr EC, Mitsock LM, Ginsburg D, Handin RI, Orkin SH. Nucleotide sequence of pre-pro-von Willebrand factor cDNA. Nucleic Acids Res 1986; 14: 7125-7.
27. Matsui T, Titani K, Mizuochi T. Structures of the asparagine-linked oligosaccharide chains of human von Willebrand factor. Occurrence of blood group A, B, and H(O) structures. J Biol Chem 1992; 267: 8723-31.
28. Jaffe EA, Hoyer LW, Nachman RL. Synthesis of von Willebrand factor by cultured human endothelial cells. Proc Natl Acad Sci USA 1974; 71: 1906-9.
29. Nachman R, Levine R, Jaffe EA. Synthesis of factor VIII antigen by cultured guinea pig megakaryocytes. J Clin Invest 1977; 60: 914-21.
30. McDonald NQ, Hendrickson WA. A structural superfamily of growth factors containing a cystine knot motif. Cell 1993; 73: 421-4.
31. Meitinger T, Meindl A, Bork P, Rost B, Sander C, Haasemann M, Murken J. Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure. Nat Genet 1993; 5: 376-380.
32. Fujimura Y, Titani K, Holland LZ, Russell SR, Roberts JR, Elder JH, Ruggeri ZM, Zimmerman TS. von Willebrand factor. A reduced and alkylated 52/48-kDa fragment beginning at amino acid residue 449 contains the domain interacting with platelet glycoprotein Ib. J Biol Chem 1986; 261: 381-5.
33. Dong Z, Thoma RS, Crimmins DL, McCourt DW, Tuley EA, Sadler JE. Disulfide bonds required to assemble functional von Willebrand factor multimers. J Biol Chem 1994; 269: 6753-8.
34. Mayadas TN, Wagner DD. Vicinal cysteines in the prosequence play a role in von Willebrand factor multimer assembly. Proc Natl Acad Sci USA 1992; 89: 3531-5.
35. Lynch DC, Zimmerman TS, Kirby EP, Livingston DM. Subunit composition of oligomeric human von Willebrand factor. J Biol Chem 1983; 258: 12757-60.
36. Wagner DD, Marder VJ. Biosynthesis of von Willebrand protein by human endothelial cells: processing steps and their intracellular localization. J Cell Biol 1984; 99: 2123-30.
37. Rehemtulla A, Kaufman RJ. Preferred sequence requirements for cleavage of pro-von Willebrand factor by propeptide-processing enzymes. Blood 1992; 79: 2349-55.
38. Vischer UM, Wagner DD. von Willebrand factor proteolytic processing and multimerization precede the formation of Weibel-Palade bodies. Blood 1994; 83: 3536-44.
39. Carew JA, Browning PJ, Lynch DC. Sulfation of von Willebrand factor. Blood 1990; 76: 2530-9.
40. Weibel ER, Palade GE. New cytoplasmic components in arterial endothelia. J Cell Biol 1964; 23: 101-12.
41. Wencel-Drake JD, Painter RG, Zimmerman TS, Ginsberg MH. Ultrastructural localizatin of human platelet thrombospondin, fibrinogen, fibronectin and von Willebrand factor in frozen thin section. Blood 1985; 65: 929-38.
42. Borchiellini A, Fijnvandraat K, ten Cate JW, Pajkrt D, van Deventer SJ, Pasterkamp G, Meijer-Huizinga F, Zwart-Huinink L, Voorherg J, van Mourik JA. Quantitative analysis of von Willebrand factor propeptide release in vivo: effect of experimental endotoxemia and administration of 1-deamino-8-D-arginine vasopressin in humans. Blood 1996; 88: 2951-8.
43. 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.
44. Ørstavik KH, Kornstad L, Reisner H, Berg K. Possible effect of Secretor locus on plasma concentration of factor VIII and von Willebrand factor. Blood 1989; 73: 990-3.
45. Conlan MG, Folsom AR, Finch A, Davis CE, Sorlie P, Marcucci G, Wu KK. 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 1993; 70: 380-5.
46. Rodeghiero F, Castaman G, Ruggeri M, Tosetto A. The bleeding time in normal subjects is mainly determined by platelet von Willebrand factor and is independent from blood group. Thromb Res 1992; 65: 605-15.
47. Bloom AL. The biosynthesis of factor VIII. Clin Haematol 1979; 8: 53-77.
48. 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.
49. Kasper CK, Hoag MS, Aggeler PM, Stone S. Blood clotting factors in pregnancy: factor VIII concentrations in normal and AHF-deficienct women. Obstet Gynecol 1964; 24: 242-7.
50. Liu L, Wang X, Lin Z, Wu H. Elevated plasma levels of VWF:Ag in hyperthyroidism are mediated through -adrenergic receptors. End Res 1993; 19: 123-33.
51. Warrell RP, Jr., Hultin MB, Coller BS. Increased factor VIII/von Willebrand factor antigen and von Willebrand factor activity in renal failure. Am J Med 1979; 66: 226-8.
52. Holvoet P, Donck J, Landeloos M, Brouwers E, Luijtens K, Arnout J, Lesaffre E, Vanrenterghem Y, Collen D. Correlation between oxidized low density lipoproteins and von Willebrand factor in chronic renal failure. Thromb Haemost 1996; 76: 663-9.
53. Danielson A, Nilsson TK, Uddenfeldt P. Alterations in C1 inhibitor and clotting factor concentrations in primary biliary cirrhosis and other chronic liver diseases. Scand J Gastroent 1990; 25: 149-54.
54. Folsom AR, Wu KK, Rosamond WD, Sharrett AR, Chambless LE. Prospective study of hemostatic factors and incidence of coronary heart disease: the Atherosclerosis Risk in Communities (ARIC) Study. Circulation 1997; 96: 1102-8.
55. Dalton RG, Dewar MS, Savidge GF, Kernoff PB, Matthews KB, Greaves M, Preston FE. Hypothyroidism as a cause of acquired von Willebrand's disease. Lancet 1987; 1: 1007-9.
56. Kreuz W, Linde R, Funk M, Meyer-Schrod R, Foll E, Nowak-Gottl U, Jacobi G, Vigh Z, Scharrer I. Valproate therapy induces von Willebrand disease type I. Epilepsia 1992; 33: 178-84.
57. Over J, Sixma JJ, Bouma BN, Bolhuis PA, Vlooswijk RA, Beeser-Visser NH. Survival of 125iodine-labeled factor VIII in patients with von Willebrand's disease. J Lab Clin Med 1981; 97: 332-44.
58. Ruggeri ZM. von Willebrand factor. J Clin Invest 1997; 99: 559-64.
59. Savage B, Saldivar E, Ruggeri ZM. Initiation of platelet adhesion by arrest onto fibrinogen or translocation on von Willebrand factor. Cell 1996; 84: 289-97.
60. Santoro SA. Adsorption of von Willebrand factor/factor VIII by the genetically distinct interstitial collagens. Thromb Res 1981; 21: 689-91.
61. Murton LF, Griffin B, Pepper DS, Barnes MJ. The interaction between collagens and factor VIII/von Willebrand factor: investigation of the structural requirements for interaction. Thromb Res 1983; 32: 545-56.
62. Rand JH, Patel ND, Schwartz E, Zhou SL, Potter BJ. 150-kD von Willebrand factor binding protein extracted from human vascular subendothelium is type VI collagen. J Clin Invest 1991; 88: 253-9.
63. Roth GJ, Titani K, Hoyer LW, Mickey MJ. Localization of binding sites within human von Willebrand factor for monomeric type III collagen. Biochemistry 1986; 25: 8357-61.
64. Kalafatis M, Takahashi Y, Girma JP, Meyer D. Localization of a collagen-interactive domain of human von Willebrand factor between amino acid residues Gly 911 and Glu 1,365. Blood 1987; 70: 1577-83.
65. Pareti FI, Niiya K, McPherson JM, Ruggeri ZM. Isolation and characterization of two domains of human von Willebrand factor that interact with fibrillar collagen types I and III. J Biol Chem 1987; 262: 13835-41.
66. Lankhof H, van Hoeij M, Schiphorst ME, Bracke M, Wu YP, Ijsseldijk MJ, Vink T, de Groot PG, Sixma JJ. A3 domain is essential for interaction of von Willebrand factor with collagen type III. Thromb Haemost 1996; 75: 950-8.
67. Bienkowska J, Cruz M, Atiemo A, Handin R, Liddington R. The von Willebrand factor A3 domain does not contain a metal ion-dependent adhesion site motif. J Biol Chem 1997; 272: 25162-7.
68. Huizinga EG, van der Plas RM, Kroon J, Sixma JJ, Gros P. Crystal structure of the A3 domain of human von Willebrand factor: implications for collagen binding. Structure 1997; 5: 1147-56.
69. Fujimura Y, Holland LZ, Ruggeri ZM, Zimmerman TS. The von Willebrand factor domain-mediating botrocetin-induced binding to glycoprotein Ib lies between Va1449 and Lys728. Blood 1987; 70: 985-8.
70. Andrews RK, Gorman JJ, Booth WJ, Corino GL, Castaldi PA, Berndt MC. Cross-linking of a monomeric 39/34-kDa dispase fragment of von Willebrand factor (Leu-480/Val-481-Gly-718) to the N-terminal region of the alpha-chain of membrane glycoprotein Ib on intact platelets with bis(sulfosuccinimidyl) suberate. Biochemistry 1989; 28: 8326-36.
71. Fujimura Y, Titani K, Holland LZ, Roberts JR, Kostel P, Ruggeri ZM, Zimmerman TS. A heparin-binding domain of human von Willebrand factor. Characterization and localization to a tryptic fragment extending from amino acid residue Val-449 to Lys-728. J Biol Chem 1987; 262: 1734-9.
72. Christophe O, Obert B, Meyer D, Girma JP. The binding domain of von Willebrand factor to sulfatides is distinct from those interacting with glycoprotein Ib, heparin, and collagen and resides between amino acid residues Leu 512 and Lys 673. Blood 1991; 78: 2310-7.
73. Celikel R, Varughese KI, Madhusudan, Yoshioka A, Ware J, Ruggeri ZM. Crystal structure of the von Willebrand factor A1 domain in complex with the function blocking NMC-4 Fab. Nat Struct Biol 1998; 5: 189-94.
74. Emsley J, Cruz M, Handin R, Liddington R. Crystal structure of the von Willebrand Factor A1 domain and implications for the binding of platelet glycoprotein Ib. J Biol Chem 1998; 273: 10396-401.
75. Kroner PA, Frey AB. Analysis of the structure and function of the von Willebrand factor A1 domain using targeted deletions and alanine-scanning mutagenesis. Biochemistry 1996; 35: 13460-8.
76. Matsushita T, Sadler JE. Identification of amino acid residues essential for von Willebrand factor binding to platelet glycoprotein Ib. Charged-to-alanine scanning mutagenesis of the A1 domain of human von Willebrand factor. J Biol Chem 1995; 270: 13406-14.
77. Mohri H, Fujimura Y, Shima M, Yoshioka A, Houhgten RA, Ruggeri ZM, Zimmerman TS. Structure of the von Willebrand factor domain interacting with glycoprotein Ib. J Biol Chem 1988; 263: 17901-4.
78. Sugimoto M, Mohri H, McClintock RA, Ruggeri ZM. Identification of discontinuous von Willebrand factor sequences involved in complex formation with botrocetin. J Biol Chem 1991; 266: 18172-8.
79. Berndt MC, Ward CM, Booth WJ, Castaldi PA, Mazurov AV, Andrews RK. Identification of Asp514-Glu 542 as a glycoprotein Ib-IX complex receptor recognition sequence in von Willebrand factor. Biochemistry 1992; 31: 11144-51.
80. Sugimoto M, Dent J, McClintock R, Ware J, Ruggeri ZM. Analysis of structure-function relationships in the platelet membrane glycoprotein Ib-binding domain of von Willebrand's factor by expression of deletion mutants. J Biol Chem 1993; 268: 12185-92.
81. Berliner S, Niiya K, Roberts JR, Houghten RA, Ruggeri ZM. Generation and characterization of peptide-specific antibodies that inhibit von Willebrand factor binding to glycoprotein IIb-IIIa without interacting with other adhesive molecules. Selectivity is conferred by Pro1743 and other amino acid residues adjacent to the sequence Arg1744-Gly1745-Asp1746. J Biol Chem 1988; 263: 7500-5.
82. Fujimoto T, Ohara S, Hawiger J. Thrombin-induced exposure and prostacyclin inhibition of the receptor for factor VIII/von Willebrand factor on human platelets. J Clin Invest 1982; 69: 1212-22.
83. Weiss HJ, Hoffmann T, Yoshioka A, Ruggeri ZM. Evidence that the arg1744 gly1745 asp1746 sequence in the GPIIb-IIIa-binding domain of von Willebrand factor is involved in platelet adhesion and thrombus formation on subendothelium. J Lab Clin Med 1993; 122: 324-32.
84. Fressinaud E, Baruch D, Girma JP, Sakariassen KS, Baumgartner HR, Meyer D. von Willebrand factor-mediated platelet adhesion to collagen involves platelet membrane glycoprotcin IIb-IIIa as well as glycoprotein Ib. J Lab Clin Med 1988; 112: 58-67.
85. Fressinaud E, Girma J-P, Sadler JE, Baumgartner HR, Meyer D. Synthetic RGDS-containing peptides of von Willebrand factor inhibit platelet adhesion to collagen. Thromb Haemost 1990; 64: 589-93.
86. Tuddenham EG, Lane RS, Rotblat F, Johnson AJ, Snape TJ, Middlelon S, Kernoff PB. Response to infusions of polyelectrolyte fractionated human factor VIII concentrate in human haemophilia A and von Willebrand's disease. Br J Haematol 1982; 52: 259-67.
87. Foster PA, Fulcher CA, Marti T, Titani K, Zimmerman TS. A major factor VIII binding domain resides within the amino-terminal 272 amino acid residues of von Willebrand factor. J Biol Chem 1987; 262: 8443-6.
88. Sadler JE. A revised classification of von Willebrand disease. Thromb Haemost 1994; 71: 520-5.
89. Sadler JE, Gralnick HR. Commentary: a new classification of von Willebrand disease. Blood 1994; 84: 676-9.
90. Holmberg L, Nilsson IM. Genetic variants of von Willebrand's disease. Br Med J 1972; 3: 317-20.
91. 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.
92. Weiss HJ, Piétu G, Rabinowitz R, Girma JP, Rogers J, Meyer D. Heterogeneous abnormalities in the multimeric structure, antigenic properties, and plasma-platelet content of factor VIII/von Willebrand factor in subtypes of classic (type I) and variant (type IIA) von Willebrand's disease. J Lab Clin Med 1983; 101: 411-25.
93. Mannucci PM, Lombardi R, Bader R, Vianello L, Federici AB, Solinas S, Mazzucconi MG, Mariani G. Heterogeneity of type I von Willebrand disease: evidence for a subgroup with an abnormal von Willebrand factor. Blood 1985; 66: 796-802.
94. Nichols WC, Ginsburg D. von Willebrand disease. Medicine 1997; 76: 1-20.
95. Mohlke KL, Ginsburg D. von Willebrand disease and quantitative variation in von Willebrand factor. J Lab Clin Med 1997; 130: 252-61.
96. Eikenboom JCJ, Matsushita T, Reitsma PH, Tuley EA, Castaman G, Briët E, Sadler JE. Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor. Blood 1996; 88: 2433-41.
97. 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.
98. Holmberg L, Nilsson IM. von Willebrand's disease. Eur J Haematol 1992; 48: 127-41.
99. Mwyer D, Fressinaud E, Gaucher C, Lavergne JM, Hilbert L, Ribba AS, Jorieux S, Mazurier C. Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: from the patient to the gene. INSERM Network on Molecular Abnormalities in von Willebrand Disease. Thromb Haemost 1997; 78: 451-6.
100. Schneppenheim R, Brassard J, Krey S, Budde U, Kunicki TJ, Holmberg L, Ware J, Ruggeri ZM. Defective dimerization of von Willebrand factor subunits due to a Cys to Arg mutation in type HD von Willebrand disease. Proc Natl Acad Sci USA 1996; 93: 3581-6.
101. Lyons SE, Bruck ME, Bowie EJW, Ginsburg D. Impaired intracellular transport produced by a subset of type IIA von Willebrand disease mutations. J Biol Chem 1992; 267: 4424-30.
102. Dent JA, Berkowitz SD, Ware J, Kasper CK, Ruggeri ZM. Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor. Proc Natl Acad Sci USA 1990; 87: 6306-10.
103. Dent JA, Galbusera M, Ruggeri ZM. Heterogeneity of plasma von Willebrand factor multimers resulting from proteolysis of the constituent subunit. J Clin Invest 1991; 88: 774-82.
104. Furlan M, Robles R, Lämmle 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.
105. Tsai HM, Sussman II, Ginsburg D, Lankhof H, Sixma JJ, Nagel RL. Proteolytic cleavage of recombinant type 2A von Willebrand factor mutants R834W and R834Q: inhibition by doxycycline and by monoclonal antibody VP-1. Blood 1997; 89: 1954-62.
106. Gaucher C, Diéval J, Mazurier C. Characterization of von Willehrand factor gene defects in two unrelated patients with type IIC von Willebrand disease. Blood 1994; 84: 1024-30.
107. Schneppenheim R, Thomas KB, Krey S, Budde U, Jessat U, Sutor AH, Ziegwr B. Identification of a candidate missense mutation in a family with von Willebrand disease type IIC. Hum Genet 1995; 95: 681-6.
108. Hultin MB, Sussman II. Postoperative thrombocytopenia in type IIB von Willebrand disease. Am J Hematol 1990; 33: 64-8.
109. Rick ME, Williams SB, Sacher RA, McKeown LP. Thrombocytopenia associated with pregnancy in a patient with type IIB von Willebrand's disease. Blood 1987; 69: 786-9.
110. Giles AR, Hoogendoorn H, Benford K. Type IIB von Willebrand's disease presenting as thrombocytopenia during pregnancy. Br J Haematol 1987; 67: 349-53.
111. 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.
112. Saha HI, Saba SR, Dent J, Ruggeri ZM, Zimmerman TS. Type IIB Tampa: a variant of von Willebrand disease with chronic thrombocytopenia, circulating platelet aggregates, and spontaneous platelet aggregation. Blood 1985; 66: 282-6.
113. Sakariassen KS, Nieuwenhuis HK, Sixma JJ. Differentiation of patients with subtype IIb-like von Willebrand's disease by means of perfusion experiments with reconstituted blood. Br J Haematol 1985; 59: 459-70.
114. Rabinowitx I, Tuley EA, Mancuso DJ, Randi AM, Firkin BG, Howard MA, Sadler JE. von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand Factor binding to platelet glycoprotein Ib. Proc Natl Acad Sci USA 1992; 89: 9846-9.
115. Hubert L, Gaucher C, Mazurier C. Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF. Blood 1995; 86: 1010-8.
116. Mancuso DJ, Kroner PA, Christopherson PA, Vokac EA, Gill JC, Montgomery RR. Type 2M:Milwaukee-1 von Willebrand disease: an in-frame deletion in the Cys509-Cys695 loop of the von Willebrand factor A1 domain causes deficient binding of von Willebrand factor to platelets. Blood 1996; 88: 2559-68.
117. Hillery CA, Mancuso DJ, Sadler JE, Ponder JW, Jozwiak MA, Christopherson PA, Gill JC, Scott JP. Montgomery RR. Type 2M von Willebrand disease: F606I and I662F mutations in the glycoprotein Ib binding domain selectively impair ristocetin-but not botrocetin-mediated binding of von Willebrand factor to platelets. Blood 1998; 91: 1572-81.
118. Mannucci PM, Lombardi R, Castaman G, Dent JA, Lattuada A, Rodeghiero F, Zimmerman TS. von Willebrand disease "Vicenza" with larger-than-normal (supranormal) von Willebrand factor multimers. Blood 1988; 71: 65-70.
119. Zieger B, Budde U, Jessat U, Zimmermann R, Simon M, Katzel R, Sutor AH. New families with von Willebrand disease type 2M (Vicenza). Thromb Res 1997; 87: 57-64.
120. Schneppenheim R, Federici AB, Budde U, Castaman G, Drewke E, Krey S, Mannucci PM, Riesen G, Rodeghiero F, Zieger B, Zimmermann R. von Willebrand disease type 2M "Vicenza" in Italian and German patients: identification of the first candidate mutation (G3864A; R125H) in 8 families. Thromb Haemost 2000; 82: 136-40.
121. Nishino M, Girma J-P, Rothschild C, Fressinaud E, Meyer D. New variant of von Willebrand disease with defective binding to factor VIII. Blood 1989; 74: 1591-9.
122. Mazurier C, Dieval J, Jorieux S, Delobel J, Goudemand M. A new von Willebrand factor (vWF) defect in a patient with factor VIII (FVIII) deficiency hut with normal levels and multimeric patterns of both plasma and platelet vWF. Characterization of abnormal vWF/FVIII interaction. Blood 1990; 75: 20-6.
123. Mazurier C. von Willebrand disease masquerading as haemophilia A. Thromb Haemost 1992; 67: 391-6.
124. Schneppenheim R, Budde U, Krey S, Drewke E, Bergmann F, Lechler E, Oldenburg J, Schwaab R. Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type 1. Thromb Haemost 1996; 76: 598-602.
125. Eikenboom JC, Reitsma PH, Peerlinck KMJ, Briët E. Recessive inheritance of von Willebrand's disease type 1. Lancet 1993; 341: 982-6.
126. Zhang ZP, Lindstedt M, Falk G, Blomback M, Egberg N, Anvret M. Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I. Am J Hum Genet 1992; 51: 850-8.
127. Zhang ZP, Blombäck M, Egberg N, Falk G, Anvret M. Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin. Genomics 1994; 21: 188-93.
128. Schneppenheim R, Krey S, Bergmann F, Bock D, Budde U, Lange M, Linde R, Mittler U, Mwili E, Mertes G, Olek K, Plendl H, Simeoni E. Genetic heterogeneity of severe von Willebrand disease type III in the German population. Hum Genet 1994; 94: 640-52.
129. Zhang Z, Lindstedt M, Blomback M, Anvret M. Effects of the mutant von Willebrand factor gene in von Willebrand disease. Hum Genet 1995; 96: 388-94.
130. Mannucci PM, Ruggeri ZM, Ciavarella N, Kazatchkine MD, Mowbray JF. Precipitating antibodies to FVIII/von Willebrand factor in von Willebrand disease: effects on replacement therapy. Blood 1981; 57: 25-31.
131. Mannucci PM, Federici AB. Antibodies to von Willebrand factor in von Willebrand disease. In: Inhibitors to coagulation factors in the 1990s. Aledort LM, Hover LW, Reissner JM, White GC, eds. Plenum Press, 1995; 87-92.
132. Mannucci PM, Tamaro G, Narachi G, Candotti G, Federici AB, Altieri DC, Tedesco F. Life-threatening reaction to FVIII concentrate in a patient with severe VWD and alloantibodies to VWF. Eur J Haematol 1987; 39, 467-70.
133. 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.
134. Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand's disease. Blood 1987; 69: 454-9.
135. Miller CH, Lenzi R, Breen C. Prevalence of von Willebrand's disease among U. S. adults. Blood 1987; 70 (Suppl 1): 377a.
136. 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.
137. Castaman G, Eikenboom JCJ, 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: 105-70.
138. Mannucci PM, Bloom AL, Larrieu MJ, Nilsson IM, West RR. Atherosclerosis and von Willebrand factor. I. Prevalence of severe von Willebrand's disease in western Europe and Israel. Br J Haematol 1984; 57: 163-9.
139. Weiss HJ, Ball AP, Mannucci PM. Incidence of severe von Willebrand's disease. N Engl J Med 1982; 307: 127.
140. 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.
141. Lak M, Peyvandi F, Mannucci PM. Prevalence of bleeding manifestations, hepatitis and alloantibodies to von Willebrand factor in 348 Iranian patients with type 3 von Willebrand disease. Br J Haematol 2000, in press.
142. Silwer J. von Willebrand's disease in Sweden. Acta Paediatr Scand 1973; Suppl. 238: 1-159.
143. Ramsay DM, Buist TA, Macleod DA, Heading RC. Persistent gastrointestinal bleeding due to angiodysplasia of the gut in von Willebrand's disease. Lancet 1976; 2: 275-8.
144. Fressinaud E, Meyer D. International survey of patients with von Willebrand disease and angiodysplasia. Thromh Haemost 1993; 70: 546.
145. Miller CH, Graham JB, Goldin LR, Elston RC. Genetics of classic von Willebrand's disease. I. Phenotypic variation within families. Blood 1979; 54: 117-36.
146. Kadir RA, Economides DL, Sabin CA, Owens D, Lee CA. Frequency of inherited bleeding disorders in women with menorrhagia. Lancet 1998; 351: 485-9.
147. 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.
148. Kouides PA. Females with von Willebrand disease: 72 years as the silent majority. Haemophilia 1998; 4: 665-76.
149. Greer IA, Lowe GD, Walker JJ, Forties CD. Haemorrhagic problems in obstetrics and gynaecology in patients with congenital coagulopathies. Br J Obstet Gynaecol 1991; 98: 909-18.
150. Kadir RA, Lee CA, Sahin 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.
151. Boklage CE. Survival probability of human conceptions from fertilization Io term. Int J Fertil 1990; 35: 75-94.
152. Punnonen R, Nyman D, Grönroos M, Wallén O. Von Willebrand's disease and pregnancy. Acta Obstet Gynecol Scand 1981; 60: 507-9.
153. Ramsahoye BH, 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.
154. Nilsson IM, Magnusson S, Borchgrevinck C. The Duke and Ivy methods for determination of the bleeding time. Thromb Diath Haemorrh 1963; 10: 223-34.
155. Fressinaud E, Veyradier A, Truchaud F, Martin I, Boyer-Neumann C, Trossaerl M, Meyer D. Screening for von Willebrand disease with a new analyzer using high shear stress: a study of 60 cases. Blood 1998; 91: 1325-31.
156. Zimmerman TS, Ratnoff OD, Powell AE. Immunologic differentiation of classic hemophilia (factor VIII deficiency) and von Willebrand's dissase, 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.
157. Girma JP, Ardaillou N, Meyer D, Lavergne JM, Larrieu MJ. Fluid-phase immunoradiometric assay for the detection of qualitative abnormalities of factor VIII/von Willebrand factor in variants of von Willebrand's disease. J Lab Clin Med 1979; 93: 926-39.
158. Ingerslev J. A sensitive ELISA for von Willebrand factor (vWf:Ag). Scand J Clin Lab Invest 1987; 47: 143-9.
159. 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.
160. Wright RD, Krauss JS. A comparison of two macroscopic platelet agglutination assays for von Willehrand factor. Ann Clin Lab Sci 1990; 20: 73-8.
161. Weiss HJ. Abnormalities of factor VIII and platelet aggregation - use of ristocetin in diagnosing the von Willebrand syndrome. Blood 1975; 45: 403-12.
162. Italian Working Group. Spectrum of von Willebrand disease: a study of 100 cases. Br J Haematol 1977; 35: 101-12.
163. Ruggeri ZM, Zimmerman TS. The complex multimeric composition of factor VIII/von Willebrand factor. Blood 1981; 57: 1140-3.
164. Brinkhous KM, Read MS. Use of venom coagglutinin and lyophilized platelets in testing for platelet-aggregating von Willebrand factor. Blood 1980; 55: 517-20.
165. Favaluro EJ, Facey D, Grispo L. Laboratory assessment of von Willebrand factor. Use of different assays can influence the diagnosis of von Willebrand's disease, dependent on differing sensitivity to sample preparation and differential recognition of high molecular weight VWF forms. Am J Clin Pathol 1995; 104: 264-71.
166. Federici AB, Canciani MT, Forza I, Cozzi G. Ristocetin cofactor and collagen binding activities normalized with antigen levels for a rapid diagnosis of type 2 von Willebrand disease. Thromb Haemost 2000; in press.
167. Mannucci PM. Hemostatic drugs. N Engl J Med 1998; 339: 245-53.
168. Mannucci PM. Desmopressin (DDAVP) in the treatment of bleeding disorders: the first 20 years. Blood 1997; 90: 2515-21.
169. Smith TJ, Gill JC, Ambruso DR, Hathaway WE. Hyponatremia and seizures in young children given DDAVP. Am J Hematol 1989; 31: 199-202.
170. Byrnes JJ, Larcada A, Moake JL. Thrombosis following desmopressin for uremic bleeding. Am J Hematol 1988; 28: 63-5.
171. Bond L, Bevan D. Myocardial infarction in a patient with hemophilia treated with DDAVP. N Engl J Med 1988; 318: 121.
172. Mazurier C, Gaucher C, Jorieux S, Goudemand M. the Collaborative Group. Biological effect of desmopressin in eight patients with type 2N ('Normandy') von Willebrand disease. Br J Haematol 1994; 88: 849-54.
173. 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.
174. 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.
175. Cornu P, Larrieu MJ, Caen J, Bernard J. Transfusion studies in von Willebrand's disease: Effect on bleeding time and factor VIII. Br J Haematol 1963; 9: 189-202.
176. Menache D, Aronson DL, Darr F, Montgomery RR, Gill JC, Kessler CM, Lusher JM, Phatak PD, Shapiro AD, Thompson AR, White GC. II. Pharmacokinetics 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.
177. Mannucci PM. Platelet von Willebrand factor in inherited and acquired bleeding disorders. Proc Natl Acad Sci USA 1995; 92: 2428-32.
178. Castilla 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.
179. Castillo R, Escoiar 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.
180. Peake IR, Lillierap DP, Boulyjenkov V, Briet E, Chan V, Ginter EK, Kraus EM, Ljung R, Mannucci PM, Nicolaides K, Tuddenham EGD. Report of a joint WHO/WFH meeting on the control of haemophilia: carrier detection and prenatal diagnosis. Blood Coag Fibrinol 1993; 4: 313-44.
181. Peake IR, Bowen D, Bignell P, Liddell MB, Sadler JE, Standen G, Bloom AL. Family studies and prenatal diagnosis in severe von Willebrand disease by polymerase chain reaction amplification of a variable number tandem repeat region of the von Willebrand factor gene. Blood 1990; 76: 555-61.
182. Hoyer LW, Lindsten J, Blomback M, Hagenfeldt L, Cordesius E, Stromberg P, Gustavii B. Prenatal evaluation of fetus at risk for severe von Willebrand's disease. Lancet 1979; 2: 191-2.
183. Ash KM, Mibashan RS, Nicolaides KH. Diagnosis and treatment of feto-maternal hemorrhage in a fetus with homozygous von Willebrand's disease. Fetal Therapy 1988; 3: 189-91.
184. Jones P, Haemophilia: a global challenge. Haemophilia 1995; 1: 11-3
185. Report on the World Social Situation 1997, United Nations. 186. Srivastava A. Delivery of haemophilia care in the developing world. Haemophilia 1998; 4 (Suppl 2): 33-40.