The Diagnosis and Management of von Willebrand Disease in Canada

 

 Buy Article Permissions and Reprints

ABSTRACT

In Canada, care for individuals with inherited bleeding disorders, including von Willebrand disease, is provided by 26 tertiary care multidisciplinary Inherited Bleeding Disorders clinics geographically spread across the country. The Association of Hemophilia Clinic Directors of Canada, the Canadian Association of Nurses in Hemophilia Care, the Canadian Physiotherapists in Hemophilia Care, the Canadian Social Workers in Hemophilia Care, and the Canadian Hemophilia Society all collaborate to provide optimal management for patients with inherited bleeding disorders. The standards of care for these patients were explicitly laid out in a 2007 document published by the Canadian Hemophilia Standards Group (with representation from all of the groups just mentioned) entitled Canadian Comprehensive Care Standards for Hemophilia and Other Inherited Bleeding Disorders. Separate Canadian guidelines for the management of patients with Hemophilia and von Willebrand disease also exist, focused on diagnosis, comprehensive care, assessment, and treatment.

REFERENCES

• 1 Statistics Canada .Available at: http://www.statcan.gc.ca/ig-gi/pop-ca-eng.htm Stats Canada. Accessed January 4, 2011
• 2 Bloom AL. von Willebrand factor: clinical features of inherited and acquired disorders.  Mayo Clin Proc. 1991;  66 (7) 743-751
  Google Scholar
• 3 Bowman M, Hopman WM, Rapson D, Lillicrap D, James P. The prevalence of symptomatic von Willebrand disease in primary care practice.  J Thromb Haemost. 2010;  8 (1) 213-216
  Google Scholar
• 4 Health Canada .Available at: http://www.hc-sc.gc.ca/hcs-sss/medi-assur/index-eng.php Accessed January 4, 2011
• 5 Canadian Hemophilia Society .Available at: http://www.hemophilia.ca/ Accessed January 4, 2011
• 6 Association of Hemophilia Clinic Directors of Canada .Available at: http://www.ahcdc.ca/documents/CanadianHemophiliaStandardsFirstEdition070612_1.pdf Accessed January 4, 2011
• 7 James PD, O'Brien LA, Hegadorn CA et al. A novel type 2A von Willebrand factor mutation located at the last nucleotide of exon 26 (3538G> A) causes skipping of 2 nonadjacent exons.  Blood. 2004;  104 (9) 2739-2745
  Google Scholar
• 8 James PD, Paterson AD, Notley C Association of Hemophilia Clinic Directors of Canada 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;  4 (4) 783-792
  Google Scholar
• 9 James PD, Notley C, Hegadorn C et al. The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study.  Blood. 2007;  109 (1) 145-154
  Google Scholar
• 10 James PD, Notley C, Hegadorn C Association of Hemophilia Clinic Directors of Canada et al. Challenges in defining type 2M von Willebrand disease: results from a Canadian cohort study.  J Thromb Haemost. 2007;  5 (9) 1914-1922
  Google Scholar
• 11 Jackson SC, Sinclair GD, Cloutier S, Duan Z, Rand ML, Poon MC. The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation.  Blood. 2009;  113 (14) 3348-3351
  Google Scholar
• 12 Othman M, Hamilton A. Platelet-type von Willebrand disease: results of a worldwide survey from the Canadian PT-VWD project.  Acta Haematol. 2010;  123 (2) 126-128
  Google Scholar
• 13 Chen CI, Federici AB, Cramer EM et al. Studies of multimers in patients with von Willebrand disease and platelet von Willebrand factor deficiency.  Br J Haematol. 1998;  103 (1) 20-28
  Google Scholar
• 14 Alhumood SA, Devine DV, Lawson L, Nantel SH, Carter CJ. Idiopathic immune-mediated acquired von Willebrand's disease in a patient with angiodysplasia: demonstration of an unusual inhibitor causing a functional defect and rapid clearance of von Willebrand factor.  Am J Hematol. 1999;  60 (2) 151-157
  Google Scholar
• 15 Pruss CM, Notley CR, Hegadorn CA, O'Brien LA, Lillicrap D. ADAMTS13 cleavage efficiency is altered by mutagenic and, to a lesser extent, polymorphic sequence changes in the A1 and A2 domains of von Willebrand factor.  Br J Haematol. 2008;  143 (4) 552-558
  Google Scholar
• 16 Berber E, James PD, Hough C, Lillicrap D. An assessment of the pathogenic significance of the R924Q von Willebrand factor substitution.  J Thromb Haemost. 2009;  7 (10) 1672-1679
  Google Scholar
• 17 Chegeni R, Vickars L, Favaloro EJ, Lillicrap D, Othman M. Functional analysis of three recombinant A1-VWF domain mutants in comparison to wild type and plasma-derived VWF facilitates subtyping in type 2 von Willebrand disease.  Thromb Res. 2011;  127 (2) 161-166
  Google Scholar
• 18 Golder M, Pruss CM, Hegadorn C et al. Mutation-specific hemostatic variability in mice expressing common type 2B von Willebrand disease substitutions.  Blood. 2010;  115 (23) 4862-4869
  Google Scholar
• 19 Barr RD, Sek J, Horsman J et al. Health status and health-related quality of life associated with von Willebrand disease.  Am J Hematol. 2003;  73 (2) 108-114
  Google Scholar
• 20 Smiley RK, Tittley P, Rock G. Studies on the prolonged bleeding time in von Willebrand's disease.  Thromb Res. 1989;  53 (5) 417-426
  Google Scholar
• 21 Rand ML, Carcao MD, Blanchette VS. Use of the PFA-100 in the assessment of primary, platelet-related hemostasis in a pediatric setting.  Semin Thromb Hemost. 1998;  24 (6) 523-529
  Google Scholar
• 22 Lillicrap D, Poon MC, Walker I, Xie F, Schwartz BA. Association of Hemophilia Clinic Directors of Canada . Efficacy and safety of the factor VIII/von Willebrand factor concentrate, haemate-P/humate-P: ristocetin cofactor unit dosing in patients with von Willebrand disease.  Thromb Haemost. 2002;  87 (2) 224-230
  Google Scholar
• 23 Revel-Vilk S, Schmugge M, Carcao MD, Blanchette P, Rand ML, Blanchette VS. Desmopressin (DDAVP) responsiveness in children with von Willebrand disease.  J Pediatr Hematol Oncol. 2003;  25 (11) 874-879
  Google Scholar
• 24 Demers C, Derzko C, David M, Douglas J. Society of Obstetricians and Gynecologists of Canada . Gynaecological and obstetric management of women with inherited bleeding disorders.  J Obstet Gynaecol Can. 2005;  27 (7) 707-732
  Google Scholar
• 25 Carcao MD, Seary ME, Casas M, Winter L, Stain AM, Judd P. Dental disease in type 3 von Willebrand disease: a neglected problem.  Haemophilia. 2010;  16 (6) 943-948
  Google Scholar
• 26 Bowman M, Hopman WM, Rapson D, Lillicrap D, Silva M, James P. A prospective evaluation of the prevalence of symptomatic von Willebrand disease (VWD) in a pediatric primary care population.  Pediatr Blood Cancer. 2010;  55 (1) 171-173
  Google Scholar
• 27 Dean JA, Blanchette VS, Carcao MD et al. von Willebrand disease in a pediatric-based population—comparison of type 1 diagnostic criteria and use of the PFA-100 and a von Willebrand factor/collagen-binding assay.  Thromb Haemost. 2000;  84 (3) 401-409
  Google Scholar
• 28 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;  6 (12) 2062-2066
  Google Scholar
• 29 Bowman M, Riddel J, Rand ML, Tosetto A, Silva M, James PD. Evaluation of the diagnostic utility for von Willebrand disease of a pediatric bleeding questionnaire.  J Thromb Haemost. 2009;  7 (8) 1418-1421
  Google Scholar
• 30 Biss TT, Blanchette VS, Clark DS et al. Quantitation of bleeding symptoms in children with von Willebrand disease: use of a standardized pediatric bleeding questionnaire.  J Thromb Haemost. 2010;  8 (5) 950-956
  Google Scholar
• 31 Association of Hemophilia Clinic Directors of Canada .Available at: http://www.ahcdc.ca/publications-and-guidelines/vonWillebrand'sdisease Accessed January 4, 2011

Paula JamesM.D. 

Associate Professor, Department of Medicine, Room 2025, Etherington Hall, Queen's University

Kingston, ON K7L 3N6, Canada

Email: jamesp@queensu.ca