New concepts in von Willebrand disease

Annual Review of Medicine

Volumn 56, Issue , 2005, Pages 173-191

  Sadler, J Evan ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

ADAMTS13 metalloprotease; Crystallography; Hemostasis; Platelet glycoprotein Ib

Indexed keywords

BLOOD CLOTTING FACTOR 8; DESMOPRESSIN; GLYCOPROTEIN IB ALPHA; THROMBIN RECEPTOR; VON WILLEBRAND FACTOR; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

BLEEDING; CLINICAL FEATURE; CRYSTAL STRUCTURE; DISEASE MARKER; DISEASE SEVERITY; HEMOSTASIS; HUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DEGRADATION; REVIEW; SYSTEMATIC REVIEW; THROMBOSIS; VON WILLEBRAND DISEASE;

HEMORRHAGE; HEMOSTASIS; HUMANS; MUTATION; PLATELET ADHESIVENESS; PLATELET MEMBRANE GLYCOPROTEINS; PURPURA, THROMBOTIC THROMBOCYTOPENIC; RISK FACTORS; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 14544302314     PISSN: 00664219     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.med.56.082103.104713     Document Type: Review

References (84)

1. Sadler JE, Mannucci PM, Berntorp E, et al. 2000. Impact, diagnosis and treatment of von Willebrand disease. Thromb. Haemost. 84:160-74
2. Sadler JE. 1994. A revised classification of von Willebrand disease. Thromb. Haemost. 71:520-25
3. Wagner DD. 1990. Cell biology of von Willebrand factor. Annu. Rev. Cell Biol. 6:217-46
4. Fowler WE, Fretto LJ, Hamilton KK, et al. 1985. Substructure of human von Willebrand factor. J. Clin. Invest. 76:1491-500
5. Savage B, Almus-Jacobs F, Ruggeri ZM. 1998. Specific synergy of multiple substrate-receptor interactions in platelet thrombus formation under flow. Cell 94: 657-66
6. Doggett TA, Girdhar G, Lawshe A, et al. 2002. Selectin-like kinetics and biomechanics promote rapid platelet adhesion in flow: the GPIbα-VWF tether bond. Biophys. J. 83:194-205
7. Emsley J, Cruz M, Handin R, et al. 1998. Crystal structure of the von Willebrand Factor Al domain and implications for the binding of platelet glycoprotein Ib. J. Biol. Chem. 273:10396-401
8. Huizinga EG, Tsuji S, Romijn RAP, et al. 2002. Structures of glycoprotein Ibα and its complex with von Willebrand factor A1 domain. Science 297:1176-79
9. Miller JL, Castella A. 1982. Platelet-type von Willebrand's disease: characterization of a new bleeding disorder. Blood 60:790-94
10. Weiss HJ, Meyer D, Rabinowitz R, et al. 1982. Pseudo-von Willebrand's disease. An intrinsic platelet defect with aggregation by unmodified human factor VIII/von Willebrand factor and enhanced adsorption of its high-molecular-weight multimers. N. Engl. J. Med. 306:326-33
11. Dent JA, Berkowitz SD, Ware J, et al. 1990. Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor. Proc. Natl. Acad. Sci. USA 87:6306-10
12. Dent JA, Galbusera M, Ruggeri ZM. 1991. Heterogeneity of plasma von Willebrand factor multimers resulting from proteolysis of the constituent subunit. J. Clin. Invest. 88:774-82
13. Tsai HM, Sussman II, Ginsburg D, et al. 1997. Proteolytic cleavage of recombinant type 2A von Willebrand factor mutants R834W and R834Q: inhibition by doxycycline and by monoclonal antibody VP-1. Blood 89:1954-62
14. Tsai H-M. 1996. Physiologic cleavage of von Willebrand factor by a plasma protease is dependent on its conformation and requires calcium ion. Blood 87:4235-44
15. Dong JF, Moake JL, Nolasco L, et al. 2002. ADAMTS-13 rapidly cleaves newly secreted ultra-large von Willebrand factor multimers on the endothelial surface under flowing conditions. Blood 100:4033-39
16. Yagi H, Konno M, Kinoshita S, et al. 2001. Plasma of patients with Upshaw-Schulman syndrome, a congenital deficiency of von Willebrand factor-cleaving protease activity, enhances the aggregation of normal platelets under high shear stress. Br. J. Haematol. 115:991-97
17. Ajzenberg N, Denis CV, Veyradier A, et al. 2002. Complete defect in vWF-cleaving protease activity associated with increased shear-induced platelet aggregation in thrombotic microangiopathy. Thromb. Haemost. 87:808-11
18. Vincentelli A, Susen S, Le Tourneau T, et al. 2003. Acquired von Willebrand syndrome in aortic stenosis. N. Engl. J. Med. 349:343-49
19. Sadler JE. 2003. Aortic stenosis, von Willebrand factor, and bleeding. N. Engl. J. Med. 349:323-25
20. Furlan M, Robles R, Solenthaler M, et al. 1997. Deficient activity of von Willebrand factor-cleaving protease in chronic relapsing thrombotic thrombocytopenic purpura. Blood 89:3097-103
21. Levy GG, Nichols WC, Lian EC, et al. 2001. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature 413:488-94
22. Furlan M, Robles R, Solenthaler M, et al. 1998. Acquired deficiency of von Willebrand factor-cleaving protease in a patient with thrombotic thrombocytopenic purpura. Blood 91:2839-46
23. Tsai HM, Lian EC. 1998. Antibodies to von Willebrand factor-cleaving protease in acute thrombotic thrombocytopenic purpura. N. Engl. J. Med. 339:1585-94
24. Saba HI, Saba SR, Dent J, et al. 1985. Type IIB Tampa: a variant of von Willebrand disease with chronic thrombocytopenia, circulating platelet aggregates, and spontaneous platelet aggregation. Blood 66:282-86
25. Zimmerman TS, Dent JA, Rugged ZM, et al. 1986. Subunit composition of plasma von Willebrand factor. Cleavage is present in normal individuals, increased in IIA and IIB von Willebrand disease, but minimal in variants with aberrant structure of individual oligomers (types IIC, IID, and IIE). J. Clin. Invest. 77:947-51
26. Holmberg L, Nilsson IM, Borge L, et al. 1983. Platelet aggregation induced by 1-desamino-8-D-arginine vasopressin (DDAVP) in type IIB von Willebrand's disease. N. Engl. J. Med. 309:816-21
27. Casonato A, Steffan A, Pontara E, et al. 1999. Post-DDAVP thrombocytopenia in type 2B von Willebrand disease is not associated with platelet consumption: failure to demonstrate glycocalicin increase or platelet activation. Thromb. Haemost. 81:224-28
28. Hara T, Kitano A, Kajiwara T, et al. 1986. Factor VIII concentrate-responsive thrombocytopenia, hemolytic anemia, and nephropathy. Evidence that factor VIII:von Willebrand factor is involved in its pathogenesis. Am. J. Pediatr. Hematol. Oncol. 8:324-28
29. Casana P, Martinez F, Haya S, et al. 2001. Association of the 3467C>T mutation (T1156M) in the von Willebrand's factor gene with dominant type 1 von Willebrand's disease. Ann. Hematol 80:381-83
30. Lethagen S, Isaksson C, Schaedel C, et al. 2002. Von Willebrand's disease caused by compound heterozygosity for a substitution mutation (T1156M) in the D3 domain of the von Willebrand factor and a stop mutation (Q2470X). Thromb. Haemost. 88:421-26
31. Eikenboom JCJ, Matsushita T, Reitsma PH, et al. 1996. Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor. Blood 88:2433-41
32. Bodó I, Katsumi A, Tuley EA, et al. 2001. Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins. Blood 98:2973-79
33. Brown SA, Eldridge A, Collins PW, et al. 2003. Increased clearance of von Willebrand factor antigen post-DDAVP in type 1 von Willebrand disease: Is it a potential pathogenic process? J. Thromb. Haemost. 1:1714-17
34. Casonato A, Pontara E, Sartorello F, et al. 2002. Reduced von Willebrand factor survival in type Vicenza von Willebrand disease. Blood 99:180-84
35. Gill JC, Endres-Brooks J, Bauer PJ, et al. 1987. The effect of ABO blood group on the diagnosis of von Willebrand disease. Blood 69:1691-95
36. Mannucci PM, Lattuada A, Castaman G, et al. 1989. Heterogeneous phenotypes of platelet and plasma von Willebrand factor in obligatory heterozygotes for severe von Willebrand disease. Blood 74:2433-36
37. Ørstavik KH, Magnus P, Reisner H, et al. 1985. Factor VIII and factor IX in a twin population. Evidence for a major effect of ABO locus on factor VIII level. Am. J. Hum. Genet. 37:89-101
38. Miller CH, Haff E, Platt SJ, et al. 2003. Measurement of von Willebrand factor activity: relative effects of ABO blood type and race. J. Thromb. Haemost. 1:2191-97
39. De Visser MC, Sandkuijl LA, Lensen RP, et al. 2003. Linkage analysis of factor VIII and von Willebrand factor loci as quantitative trait loci. J. Thromb. Haemost. 1:1771-76
40. O'Donnell J, Boulton FE, Manning RA, et al. 2002. Genotype at the Secretor blood group locus is a determinant of plasma von Willebrand factor level. Br. J. Haematol. 116:350-56
41. Souto JC, Almasy L, Soria JM, et al. 2003. Genome-wide linkage analysis of von Willebrand factor plasma levels: results from the GAIT project. Thromb. Haemost. 89:468-74
42. Harvey PJ, Keightley AM, Lam YM, et al. 2000. A single nucleotide polymorphism at nucleotide-1793 in the von Willebrand factor (VWF) regulatory region is associated with plasma VWF: Ag levels. Br. J. Haematol. 109:349-53
43. Kamphuisen PW, Eikenboom JC, Rosendaal FR, et al. 2001. High factor VIII antigen levels increase the risk of venous thrombosis but are not associated with polymorphisms in the von Willebrand factor and factor VIII gene. Br. J. Haematol. 115:156-58
44. Vossen CY, Hasstedt SJ, Rosendaal FR, et al. 2004. Heritability of plasma concentrations of clotting factors and measures of a prethrombotic state in a protein C-deficient family. J. Thromb. Haemost. 2:242-47
45. Souto JC, Almasy L, Borrell M, et al. 2000. Genetic determinants of hemostasis phenotypes in Spanish families. Circulation 101:1546-51
46. de Lange M, Snieder H, Ariens RA, et al. 2001. The genetics of haemostasis: a twin study. Lancet 357:101-5
47. Harrap SB, Hopper JL. 2001. Genetics of haemostasis. Lancet 357:83-84
48. Casonato A, Pontara E, Bertomoro A, et al. 2003. Fainting induces an acute increase in the concentration of plasma factor VIII and von Willebrand factor. Haematologica 88:688-93
49. Mauser Bunschoten EP, van Houwelingen JC, Sjamsoedin Visser EJ, et al. 1988. Bleeding symptoms in carriers of hemophilia A and B. Thromb. Haemost. 59:349-52
50. Sramek A, Eikenboom JC, Briët E, et al. 1995. Usefulness of patient interview in bleeding disorders. Arch. Intern. Med. 155:1409-15
51. Silwer J. 1973. von Willebrand's disease in Sweden. Acta Paediatr. Scand. Suppl. 238:1-159
52. Nosek-Cenkowska B, Cheang MS, Pizzi NJ, et al. 1991. Bleeding/bruising symptomatology in children with and without bleeding disorders. Thromb. Haemost. 65:237-41
53. Sadler JE. 2003. Von Willebrand disease type 1: a diagnosis in search of a disease. Blood 101:2089-93
54. Wahlberg T, Blomback M, Hall P, et al. 1980. Application of indicators, predictors and diagnostic indices in coagulation disorders. I. Evaluation of a self-administered questionnaire with binary questions. Methods Inf. Med. 19:194-200
55. Rodeghiero F, Castaman G, Dini E. 1987. Epidemiological investigation of the prevalence of von Willebrand's disease. Blood 69:454-59
56. Werner EJ, Broxson EH, Tucker EL, et al. 1993. Prevalence of von Willebrand disease in children: a multiethnic study. J. Pediatr. 123:893-98
57. Biron C, Mahieu B, Rochette A, et al. 1999. Preoperative screening for von Willebrand disease type 1: low yield and limited ability to predict bleeding. J. Lab. Clin. Med. 134:605-9
58. Castaman G, Eikenboom JCJ, Bertina RM, et al. 1999. Inconsistency of association between type 1 von Willebrand disease phenotype and genotype in families identified in an epidemiological investigation. Thromb. Haemost. 82:1065-70
59. Miller CH, Graham JB, Goldin LR, Elston RC. 1979. Genetics of classic von Willebrand's disease. I. Phenotypic variation within families. Blood 54:117-36
60. Castaman G, Novella E, Castiglia E, et al. 2002. A novel family with recessive von Willebrand disease due to compound heterozygosity for a splice site mutation and a missense mutation in the von Willebrand factor gene. Thromb. Res. 105:135-38
61. Eikenboom JC, Castaman G, Vos HL, et al. 1998. Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin. Thromb. Haemost. 79:709-17
62. Nichols WC, Lyons SE, Harrison JS, et al. 1991. Severe von Willebrand disease due to a defect at the level of von Willebrand factor mRNA expression: detection by exonic PCR-restriction fragment length polymorphism analysis. Proc. Natl. Acad. Sci. USA 88:3857-61
63. Schneppenheim R, Krey S, Bergmann F, et al. 1994. Genetic heterogeneity of severe von Willebrand disease type III in the German population. Hum. Genet. 94:640-52
64. Zhang Z, Lindstedt M, Blomback M, et al. 1995. Effects of the mutant von Willebrand factor gene in von Willebrand disease. Hum. Genet. 96:388-94
65. Inbal A, Kornbrot N, Zivelin A, et al. 1992. The inheritance of type I and type III von Willebrand's disease in Israel: linkage analysis, carrier detection and prenatal diagnosis using three intragenic restriction fragment length polymorphisms. Blood Coagul. Fibrinolysis 3:167-77
66. Eikenboom JC, Reitsma PH, Peerlinck KMJ, Briët E. 1993. Recessive inheritance of von Willebrand's disease type I. Lancet 341:982-86
67. Hallberg L, Hogdahl AM, Nilsson L, et al. 1966. Menstrual blood loss - a population study. Variation at different ages and attempts to define normality. Acta Obstet. Gynecol. Scand. 45:320-51
68. Edlund M, Blomback M, von Schoultz B, et al. 1996. On the value of menorrhagia as a predictor for coagulation disorders. Am. J. Hematol. 53:234-38
69. Woo YL, White B, Corbally R, et al. 2002. von Willebrand's disease: an important cause of dysfunctional uterine bleeding. Blood Coagul. Fibrinolysis 13:89-93
70. Kadir RA, Economides DL, Sabin CA, et al. 1998. Frequency of inherited bleeding disorders in women with menorrhagia. Lancet 351:485-89
71. Johansson L, Jansson JH, Stegmayr B, et al. 2004. Hemostatic factors as risk markers for intracerebral hemorrhage: a prospective incident case-referent study. Stroke 35:826-30
72. James PD, Notley CR, Cameron C, et al. 2003. The spectrum of phenotype/genotype associations in type 1 von Willebrand disease: results from the Canadian type 1 VWD study. Blood 102:89a (Abstr.)
73. Eikenboom JCJ, van Marion V, Putter H, et al. 2003. Analysis of cosegregation of type 1 von Willebrand's disease phenotype and von Willebrand factor gene haplotypes in the European Multicenter MCMDM-1VWD study. Blood 102:90a (Abstr.)
74. Castaman G, Eikenboom JC, Missiaglia E, et al. 2000. 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. 108:876-79
75. Casaña P, Martínez F, Haya S, et al. 2001. Significant linkage and non-linkage of type 1 von Willebrand disease to the von Willebrand factor gene. Br. J. Haematol. 115:692-700
76. Conway DS, Pearce LA, Chin BS, et al. 2003. Prognostic value of plasma von Willebrand factor and soluble P-selectin as indices of endothelial damage and platelet activation in 994 patients with nonvalvular atrial fibrillation. Circulation 107:3141-45
77. Kamphuisen PW, Eikenboom JC, Bertina RM. 2001. Elevated factor VIII levels and the risk of thrombosis. Arterioscler. Thromb. Vasc. Biol. 21:731-38
78. van der Meer IM, Brouwers GJ, Bulk S, et al. 2004. Genetic variability of von Willebrand factor and risk of coronary heart disease: the Rotterdam Study. Br. J. Haematol. 124:343-47
79. Koster T, Blann AD, Briet E, et al. 1995. Role of clotting factor VIII in effect of von Willebrand factor on occurrence of deep-vein thrombosis. Lancet 345:152-55
80. Weiss HJ. 2004. The bleeding tendency in patients with low von Willebrand factor and type 1 phenotype is greater in the presence of impaired collagen-induced platelet aggregation. J. Thromb. Haemost. 2:198-99
81. Kunicki TJ, Federici AB, Salomon DR, et al. 2004. An association of candidate gene haplotypes and bleeding severity in von Willebrand disease (VWD) type 1 pedigrees. Blood 104: in press
82. Lensen R, Bertina RM, Vandenbroucke JP, et al. 2001. High factor VIII levels contribute to the thrombotic risk in families with factor V Leiden. Br. J. Haematol. 114:380-86
83. Goodeve A, Walker M, Peake I, et al. 2003. Contribution of ABO blood group to type 1 von Willebrand disease in patients entered in the multicenter MCMDM-1VWD study. Blood 102:91a (Abstr.)
84. Sadler JE. 1994. von Willebrand disease. In Haemostasis and Thrombosis, ed. AL Bloom, CD Forbes, DP Thomas, EGD Tuddenham, pp. 843-57. Edinburgh: Churchill-Livingstone