Diagnosis of von Willebrand Disease in South Island, New Zealand

 

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ABSTRACT

New Zealand is a small country of two islands and 4 million people, of which 1 million reside in the South Island. Canterbury Health Laboratories provides laboratory services to the whole of South Island and lower parts of North Island. There are 155 von Willebrand disease (VWD) patients in our South Island database, of which 17 have type 2 and 3 have type 3 VWD. A brief overview of diagnostic services for VWD being followed in our region is detailed in this article. We strive continually to advance the repertoire of diagnostic tests. We also present an analysis of our experience with a flow-based functional von Willebrand factor assay. The VWD patients are managed by hemostasis team members, who also provide screening and educational input to affected families. The Haemophilia Foundation of New Zealand is an active patient support group providing education and support both directed individually and in the group setting, through residential educational camps.

REFERENCES

• 1 Castaman G, Montgomery RR, Meschengieser SS, Haberichter SL, Woods AI, Lazzari MA. von Willebrand's disease diagnosis and laboratory issues.  Haemophilia. 2010;  16 (5, Suppl 5) 67-73
  Google Scholar
• 2 Howard MA, Sawers RJ, Firkin BG. Ristocetin: a means of differentiating von Willebrand's disease into two groups.  Blood. 1973;  41 (5) 687-690
  Google Scholar
• 3 Brown JE, Bosak JO. An ELISA test for the binding of von Willebrand antigen to collagen.  Thromb Res. 1986;  43 (3) 303-311
  Google Scholar
• 4 Favaloro EJ. An update on the von Willebrand factor collagen binding assay: 21 years of age and beyond adolescence but not yet a mature adult.  Semin Thromb Hemost. 2007;  33 (8) 727-744
  Google Scholar
• 5 Favaloro EJ, Bonar R, Kershaw G RCPA QAP in Haematology et al. Reducing errors in identification of von Willebrand disease: the experience of the Royal College of Pathologists of Australasia Quality Assurance Program.  Semin Thromb Hemost. 2006;  32 (5) 505-513
  Google Scholar
• 6 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 (1) 107-113
  Google Scholar
• 7 Federici AB, Canciani MT, Forza I et al.. A sensitive ristocetin co-factor activity assay with recombinant glycoprotein Ibalpha for the diagnosis of patients with low von Willebrand factor levels.  Haematologica. 2004;  89 (1) 77-85
  Google Scholar
• 8 Lindahl TL, Fagerberg IH, Larsson A. A new flow cytometric method for measurement of von Willebrand factor activity.  Scand J Clin Lab Invest. 2003;  63 (3) 217-223
  Google Scholar
• 9 Giannini S, Mezzasoma AM, Leone M, Gresele P. Laboratory diagnosis and monitoring of desmopressin treatment of von Willebrand's disease by flow cytometry.  Haematologica. 2007;  92 (12) 1647-1654
  Google Scholar
• 10 Bland JM, Altman DG. Statistical methods for assessing agreement between two methods of clinical measurement.  Lancet. 1986;  1 (8476) 307-310
  Google Scholar
• 11 Denholm A, Smith MP, Patterson DM. Accurate diagnosis of high-affinity VWF-platelet disorders: a case study of pseudo von Willebrand disease.  NZ J Med Lab Sci. 2008;  62 (1) 7-9
  Google Scholar
• 12 Allan KL, Patterson DM, Smith MP. Validation of a von Willebrand factor-factor VIII binding assay to characterise atypical phenotypes of apparent haemophilia A.  NZ J Med Lab Sci. 2003;  57 (1) 12-15
  Google Scholar
• 13 Casonato A, Pontara E, Zerbinati P, Zucchetto A, Girolami A. The evaluation of factor VIII binding activity of von Willebrand factor by means of an ELISA method: significance and practical implications.  Am J Clin Pathol. 1998;  109 (3) 347-352
  Google Scholar
• 14 Goodeve AC. The genetic basis of von Willebrand disease.  Blood Rev. 2010;  24 (3) 123-134
  Google Scholar
• 15 Favaloro EJ, Patterson D, Denholm A et al.. Differential identification of a rare form of platelet-type (pseudo-) von Willebrand disease (VWD) from type 2B VWD using a simplified ristocetin-induced-platelet-agglutination mixing assay and confirmed by genetic analysis.  Br J Haematol. 2007;  139 (4) 623-626
  Google Scholar
• 16 Mancuso DJ, Tuley EA, Westfield LA et al.. Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction.  Biochemistry. 1991;  30 (1) 253-269
  Google Scholar
• 17 Bowen DJ. An influence of ABO blood group on the rate of proteolysis of von Willebrand factor by ADAMTS13.  J Thromb Haemost. 2003;  1 (1) 33-40
  Google Scholar
• 18 Kokame K, Nobe Y, Kokubo Y, Okayama A, Miyata T. FRETS-VWF73, a first fluorogenic substrate for ADAMTS13 assay.  Br J Haematol. 2005;  129 (1) 93-100
  Google Scholar
• 19 Haemophilia Foundation of New Zealand. Details available at: http://Haemophilia.org.nz Accessed December 12, 2010
  Google Scholar

Rajeev RajagopalM.R.C.P. 

Department of Haematology, Canterbury District Health Board, Canterbury Health Laboratories, Hagley Avenue

P.O. Box 151, Christchurch, 8140, New Zealand

Email: rrajeevdr@yahoo.com