Von Willebrand disease

Sadler JE, Budde U, Eikenboom JC, et al. Update on the pathophysiology and classification of von Willebrand disease: a report of the subcommittee on von Willebrand factor. J Thromb Haemost. 2006 Oct;4(10):2103-14.Full text  Abstract

Pavord S, Rayment R, Madan B, et al; on behalf of the Royal College of Obstetricians and Gynaecologists. Management of inherited bleeding disorders in pregnancy. Green-top guideline No 71 (joint with UKHCDO). BJOG. 2017 Jul;124(8):e193–263.Full text  Abstract

James PD, Connell NT, Ameer B, et al. ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease. Blood Adv. 2021 Jan 12;5(1):280-300.Full text  Abstract

Laffan MA, Lester W, O'Donnell JS, et al. The diagnosis and management of von Willebrand disease: a United Kingdom Haemophilia Centre Doctors Organization guideline approved by the British Committee for Standards in Haematology. Br J Haematol. 2014 Nov;167(4):453-65.Full text  Abstract

Platton S, Baker P, Bowyer A, et al. Guideline for laboratory diagnosis and monitoring of von Willebrand disease: a joint guideline from the United Kingdom Haemophilia Centre Doctors' Organisation and the British Society for Haematology. Br J Haematol. 2024 May;204(5):1714-31.Full text  Abstract

Connell NT, Flood VH, Brignardello-Petersen R, et al. ASH ISTH NHF WFH 2021 guidelines on the management of von Willebrand disease. Blood Adv. 2021 Jan 12;5(1):301-25.Full text  Abstract

1. Sadler JE, Budde U, Eikenboom JC, et al. Update on the pathophysiology and classification of von Willebrand disease: a report of the subcommittee on von Willebrand factor. J Thromb Haemost. 2006 Oct;4(10):2103-14.Full text  Abstract

2. Vincentelli A, Susen S, Le Tourneau T, et al. Acquired von Willebrand syndrome in aortic stenosis. N Engl J Med. 2003 Jul 24;349(4):343-9.Full text  Abstract

3. Fabris F, Casonato A, Grazia del Ben M, et al. Abnormalities of von Willebrand factor in myeloproliferative disease: a relationship with bleeding diathesis. Br J Haematol. 1986 May;63(1):75-83. Abstract

4. Stuijver DJ, Piantanida E, van Zaane B, et al. Acquired von Willebrand syndrome in patients with overt hypothyroidism: a prospective cohort study. Haemophilia. 2014 May;20(3):326-32. Abstract

5. Haberichter SL, Balistreri M, Christopherson P, et al. Assay of the von Willebrand factor (VWF) propeptide to identify patients with type 1 von Willebrand disease with decreased VWF survival. Blood. 2006 Nov 15;108(10):3344-51.Full text  Abstract

6. Haberichter SL, Castaman G, Budde U, et al. Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD). Blood. 2008 May 15;111(10):4979-85.Full text  Abstract

7. Castaman G, Federici AB, Rodeghiero F, et al. Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment. Haematologica. 2003;88:94-108.Full text  Abstract

8. Du P, Bergamasco A, Moride Y, et al. Von willebrand disease epidemiology, burden of illness and management: a systematic review. J Blood Med. 2023;14:189-208.Full text  Abstract

9. Nichols WL, Hultin MB, James AH, et al. Von Willebrand disease (VWD): evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA). Haemophilia. 2008;14:171-232.Full text  Abstract

10. Labarque V, Stain AM, Blanchette V, et al. Intracranial haemorrhage in von Willebrand disease: a report on six cases. Haemophilia. 2013 Jul;19(4):602-6.Full text  Abstract

11. Zanon E, Pasca S, Bertomoro A, et al. Spontaneous recurrent intracranial haemorrhage in a woman with type 2B von Willebrand disease: A clinical case and a brief literature review. Haemophilia. 2019 Jul;25(4):e282-5. Abstract

12. Tosetto A, Badiee Z, Baghaipour MR, et al. Bleeding symptoms in patients diagnosed as type 3 von Willebrand disease: results from 3WINTERS-IPS, an international and collaborative cross-sectional study. J Thromb Haemost. 2020 Sep;18(9):2145-54.Full text  Abstract

13. Federici AB, Mannucci PM, Castaman G, et al. Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients. Blood. 2009 Jan 15;113(3):526-34.Full text  Abstract

14. Pavord S, Rayment R, Madan B, et al; on behalf of the Royal College of Obstetricians and Gynaecologists. Management of inherited bleeding disorders in pregnancy. Green-top guideline No 71 (joint with UKHCDO). BJOG. 2017 Jul;124(8):e193–263.Full text  Abstract

15. James PD, Connell NT, Ameer B, et al. ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease. Blood Adv. 2021 Jan 12;5(1):280-300.Full text  Abstract

16. Srivastava A, Rodeghiero F. Epidemiology of von Willebrand disease in developing countries. Sem Thromb Hemost. 2005 Nov;31(5):569-76. Abstract

17. Ward SE, O'Sullivan JM, O'Donnell JS. The relationship between ABO blood group, von Willebrand factor, and primary hemostasis. Blood. 2020 Dec 17;136(25):2864-74.Full text  Abstract

18. Flood VH, Christopherson PA, Gill JC, et al. Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States. Blood. 2016 May 19;127(20):2481-8.Full text  Abstract

19. Gill JC, Endres-Brooks J, Bauer PJ, et al. The effect of ABO blood group on the diagnosis of von Willebrand disease. Blood. 1987 Jun;69(6):1691-5.Full text  Abstract

20. Laffan MA, Lester W, O'Donnell JS, et al. The diagnosis and management of von Willebrand disease: a United Kingdom Haemophilia Centre Doctors Organization guideline approved by the British Committee for Standards in Haematology. Br J Haematol. 2014 Nov;167(4):453-65.Full text  Abstract

21. James PD, Lillicrap D. von Willebrand disease: clinical and laboratory lessons learned from the large von Willebrand disease studies. Am J Hematol. 2012 May;87 Suppl 1(0 1):S4-11.Full text  Abstract

22. Eikenboom J, Van Marion V, Putter H, et al. Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD. J Thromb Haemost. 2006 Apr;4(4):774-82.Full text  Abstract

23. Goodeve A, Eikenboom J, Castaman G, et al. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand Disease (MCMDM-1VWD). Blood. 2007 Jan 1;109(1):112-21.Full text  Abstract

24. Yadegari H, Driesen J, Pavlova A, et al. Mutation distribution in the von Willebrand factor gene related to the different von Willebrand disease (VWD) types in a cohort of VWD patients. Thromb Haemost. 2012 Oct;108(4):662-71.Full text  Abstract

25. Swystun LL, Lillicrap D. Genetic regulation of plasma von Willebrand factor levels in health and disease. J Thromb Haemost. 2018 Dec;16(12):2375-90.Full text  Abstract

26. Miller CH, Haff E, Platt SJ, et al. Measurement of von Willebrand factor activity: relative effects of ABO blood type and race. J Thromb Haemost. 2003 Oct;1(10):2191-7. Abstract

27. Blomback M, Konkle BA, Manco-Johnson MJ, et al. Preanalytical conditions that affect coagulation testing, including hormonal status and therapy. J Thromb Haemost. 2007 Apr;5(4):855-8. Abstract

28. James PD, Paterson AD, Notley C, et al. Genetic linkage and association analysis in type 1 von Willebrand disease: results from the Canadian type 1 VWD study. J Thromb Haemost. 2006 Apr;4(4):783-92.Full text  Abstract

29. James PD, Lillicrap D. The molecular characterization of von Willebrand disease: good in parts. Br J Haematol. 2013 Apr;161(2):166-76. Abstract

30. Zolkova J, Sokol J, Simurda T, et al. Genetic background of von Willebrand disease: history, current state, and future perspectives. Semin Thromb Hemost. 2020 Jun;46(4):484-500. Abstract

31. Sadler JE. Biochemistry and genetics of von Willebrand factor. Annu Rev Biochem. 1998;67:395-424. Abstract

32. James PD, Goodeve AC. von Willebrand disease. Genet Med. 2011 May;13(5):365-76.Full text  Abstract

33. Bowman M, Mundell G, Grabell J, et al. Generation and validation of the condensed MCMDM-1VWD bleeding questionnaire for von Willebrand disease. J Thromb Haemost. 2008 Dec;6(12):2062-6.Full text  Abstract

34. Sadler JE. Von Willebrand disease type 1: a diagnosis in search of a disease. Blood. 2003 Mar 15;101(6):2089-93.Full text  Abstract

35. Jacobi PM, Gill JC, Flood VH, et al. Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage. Blood. 2012 May 10;119(19):4543-53.Full text  Abstract

36. Platton S, Baker P, Bowyer A, et al. Guideline for laboratory diagnosis and monitoring of von Willebrand disease: a joint guideline from the United Kingdom Haemophilia Centre Doctors' Organisation and the British Society for Haematology. Br J Haematol. 2024 May;204(5):1714-31.Full text  Abstract

37. Lillicrap D. von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy. Blood. 2013 Nov 28;122(23):3735-40.Full text  Abstract

38. Mazurier C, Goudemand J, Hilbert L, et al. Type 2N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology. Best Pract Res Clin Haematol. 2001 Jun;14(2):337-47. Abstract

39. Castaman G, Goodeve A, Eikenboom J, et al. Principles of care for the diagnosis and treatment of von Willebrand disease. Haematologica. 2013 May;98(5):667-74.Full text  Abstract

40. Goodeve AC. The genetic basis of von Willebrand disease. Blood Rev. 2010 May;24(3):123-34.Full text  Abstract

41. Seidizadeh O, Baronciani L, Peyvandi F. Challenges and considerations of genetic testing in von Willebrand disease. Res Pract Thromb Haemost. 2025 Jan;9(1):102686.Full text  Abstract

42. Ziv O, Ragni MV. Bleeding manifestations in males with von Willebrand disease. Haemophilia. 2004 Mar;10(2):162-8. Abstract

43. Tosetto A, Rodeghiero F, Castaman G, et al. A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 vWD). J Thromb Haemost. 2006 Apr;4(4):766-73.Full text  Abstract

44. Deforest M, Grabell J, Albert S, et al. Generation and optimization of the self-administered bleeding assessment tool and its validation as a screening test for von Willebrand disease. Haemophilia. 2015 Sep;21(5):e384-8. Abstract

45. Rodeghiero F, Tosetto A, Abshire T, et al. ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders. J Thromb Haemost. 2010 Sep;8(9):2063-5.Full text  Abstract

46. Bowman M, Riddel J, Rand ML, et al. Evaluation of the diagnostic utility for von Willebrand disease of a pediatric bleeding questionnaire. J Thromb Haemost. 2009 Aug;7(8):1418-21.Full text  Abstract

47. 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 Feb 15;91(4):1325-31.Full text  Abstract

48. Hayward CP, Harrison P, Cattaneo M, et al. Platelet function analyzer PFA-100 closure time in the evaluation of platelet disorders and platelet function. J Thromb Haemost. 2006 Feb;4(2):312-9.Full text  Abstract

49. Flood VH, Friedman KD, Gill JC, et al. No increase in bleeding identified in type 1 VWD subjects with D1472H sequence variation. Blood. 2013 May 2;121(18):3742-4.Full text  Abstract

50. Kalot MA, Husainat N, Abughanimeh O, et al. Laboratory assays of VWF activity and use of desmopressin trials in the diagnosis of VWD: a systematic review and meta-analysis. Blood Adv. 2022 Jun 28;6(12):3735-45.Full text  Abstract

51. Abou-Ismail MY, James PD, Flood VH, et al. Beyond the guidelines: how we approach challenging scenarios in the diagnosis and management of von Willebrand disease. J Thromb Haemost. 2023 Feb;21(2):204-14.Full text  Abstract

52. Seidizadeh O, Peyvandi F, Mannucci PM. Von Willebrand disease type 2N: an update. J Thromb Haemost. 2021 Apr;19(4):909-16.Full text  Abstract

53. Warner PE, Critchley HO, Lumsden MA, et al. Menorrhagia I: measured blood loss, clinical features and outcome in women with heavy periods: a survey with follow up data. Am J Obstet Gynecol. 2004 May;190(5):1216-23. Abstract

54. James AH, Kouides PA, Abdul-Kadir R, et al. Von Willebrand disease and other bleeding disorders in women: consensus on diagnosis and management from an international expert panel. Am J Obstet Gynecol. 2009 Jul;201(1):12.e1-8.Full text  Abstract

55. Minardi D, Scortechini AR, Milanese G, et al. Spontaneous recurrent hematuria and hematospermia: unique manifestations of von Willebrand disease type I. Case report. Arch Ital Urol Androl. 2016 Mar 31;88(1):62-3. Abstract

56. Leuer M, Oldenburg J, Lavergne JM, et al. Somatic mosaicism in hemophilia A: a fairly common event. Am J Hum Genet. 2001 Jul;69(1):75-87.Full text  Abstract

57. Franchini M, Mannucci PM. Acquired von Willebrand syndrome: focused for hematologists. Haematologica. 2020 Aug;105(8):2032-7.Full text  Abstract

58. Tiede A, Rand JH, Budde U, et al. How I treat the acquired von Willebrand syndrome. Blood. 2011 Jun 23;117(25):6777-85.Full text  Abstract

59. Baumgartner H, Hung J, Bermejo J, et al. Recommendations on the echocardiographic assessment of aortic valve stenosis: a focused update from the European Association of Cardiovascular Imaging and the American Society of Echocardiography. J Am Soc Echocardiogr. 2017 Apr;30(4):372-92.Full text  Abstract

60. National Bleeding Disorders Foundation. ​MASAC document 266 - MASAC recommendations regarding the treatment of von Willebrand disease. 4 March 2021 [internet publication].Full text

61. Connell NT, Flood VH, Brignardello-Petersen R, et al. ASH ISTH NHF WFH 2021 guidelines on the management of von Willebrand disease. Blood Adv. 2021 Jan 12;5(1):301-25.Full text  Abstract

62. Curry N, Bowles L, Clark TJ, et al. Gynaecological management of women with inherited bleeding disorders. A UK Haemophilia Centres Doctors' Organisation guideline. Haemophilia. 2022 Nov;28(6):917-37. Abstract

63. Lavin M, Aguila S, Schneppenheim S, et al. Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels. Blood. 2017 Nov 23;130(21):2344-53.Full text  Abstract

64. Federici AB, Mannucci PM. Management of inherited von Willebrand disease in 2007. Ann Med. 2007;39(5):346-58. Abstract

65. 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 Sep;82(1):87-93. Abstract

66. Seidizadeh O, Eikenboom JCJ, Denis CV, et al. von Willebrand disease. Nat Rev Dis Primers. 2024 Jul 25;10(1):51. Abstract

67. Gill JC, Castaman G, Windyga J, et al. Hemostatic efficacy, safety, and pharmacokinetics of a recombinant von Willebrand factor in severe von Willebrand disease. Blood. 2015 Oct 22;126(17):2038-46.Full text  Abstract

68. Goudemand J, Bridey F, Claeyssens S, et al. Management of von Willebrand disease with a factor VIII-poor von Willebrand factor concentrate: results from a prospective observational post-marketing study. J Thromb Haemost. 2020 Aug;18(8):1922-33.Full text  Abstract

69. Coppola A, Franchini M, Makris M, et al. Thrombotic adverse events to coagulation factor concentrate for treatment of patients with haemophilia and von Willebrand disease: a systematic review of prospective studies. Haemophilia.2012 May;18(3):e173-87. Abstract

70. Rodeghiero F, Castaman G. Treatment of von Willebrand disease. Semin Hematol. 2005;42:29-35. Abstract

71. National Bleeding Disorders Foundation. ​MASAC Document 265 - MASAC guidelines for pregnancy and perinatal management of women with inherited bleeding disorders and carriers of hemophilia A or B. 4 March 2021 [internet publication].Full text

72. Janbain M, Kouides P. Managing pregnant women with hemophilia and von Willebrand disease: how do we provide optimum care and prevent complications? Int J Womens Health. 2022;14:1307-13.Full text  Abstract

73. Miljic P, Noureldin A, Lavin M, et al. Challenges in the management of women with type 2B von Willebrand disease during pregnancy and the postpartum period: evidence from literature and data from an international registry and physicians' survey-communication from the Scientific and Standardization Committees of the International Society on Thrombosis and Haemostasis. J Thromb Haemost. 2023 Jan;2(1):154-63.Full text  Abstract

74. Soleimani Samarkhazan H, Khaksari MN, Rahmati A, et al. Von Willebrand disease (VWD) and pregnancy: a comprehensive overview. Thromb J. 2025 Apr 28;23(1):41.Full text  Abstract

75. Trigg DE, Stergiotou I, Peitsidis P, et al. A systematic review: the use of desmopressin for treatment and prophylaxis of bleeding disorders in pregnancy. Haemophilia. 2012;18:25-33.Full text  Abstract

76. American College of Obstetricians and Gynecologists. ​Von Willebrand disease in women: number 580. Dec 2013 [internet publication].Full text

77. Rodeghiero F. Management of menorrhagia in women with inherited bleeding disorders: general principles and use of desmopressin. Haemophilia. 2008;14(suppl 1):21-30. Abstract

78. Ray S, Ray A. Non‐surgical interventions for treating heavy menstrual bleeding (menorrhagia) in women with bleeding disorders. Cochrane Database Syst Rev. 2016;(11):CD010338.Full text  Abstract

79. Zia A, Kouides P, Khodyakov D, et al. Standardizing care to manage bleeding disorders in adolescents with heavy menses-A joint project from the ISTH pediatric/neonatal and women's health SSCs. J Thromb Haemost. 2020 Oct;18(10):2759-74.Full text  Abstract

80. Barg AA, Avishai E, Budnik I, et al. The potential role of emicizumab prophylaxis in severe von Willebrand disease. Blood Cells Mol Dis. 2021 Mar;87:102530. Abstract

81. Shanmukhaiah C, Jijina F, Kannan S, et al. Efficacy of emicizumab in von Willebrand disease (VWD) patients with and without alloantibodies to von Willebrand factor (VWF): report of two cases and review of literature. Haemophilia. 2022 Mar;28(2):286-91. Abstract

82. Ay C, Pabinger I, Kovacevic KD, et al. The VWF binding aptamer rondoraptivon pegol increases platelet counts and VWF/FVIII in type 2B von Willebrand disease. Blood Adv. 2022 Sep 27;6(18):5467-76.Full text  Abstract

83. Casari C, Leung J, James PD. New and emerging therapies for women, girls, and people with the potential to menstruate with VWD. Blood Adv. 2023 Dec 26;7(24):7501-5.Full text  Abstract

84. Millar CM, Raheja P, Wheeler AP, et al. A phase Ia study of VGA039, a protein S-targeting monoclonal antibody, in individuals with von Willebrand disease demonstrates concentration-dependent increases in thrombin generation for reducing bleeding. Blood. 2024 Nov;144(suppl 1): 3981.Full text