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Semin Thromb Hemost 2011; 37(5): 568-575
DOI: 10.1055/s-0031-1281044
© Thieme Medical Publishers

Diagnosis and Management of von Willebrand Disease in a Single Institution of Argentina

Adriana I. Woods1 , 2 , Analía Sánchez-Luceros1 , 2 , Susana S. Meschengieser1 , Ana C. Kempfer1 , 2 , Alicia N. Blanco1 , María A. Lazzari1 , 2
  • 1Instituto de Investigaciones Hematológicas “Mariano R Castex,” Academia Nacional de Medicina de Buenos Aires, Ciudad Autónoma de Buenos Aires, Argentina
  • 2Consejo Nacional de Investigaciones (CONICET), Argentina
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Publication History

Publication Date:
18 November 2011 (online)

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Diagnosis and Management of von Willebrand Disease in a Single Institution of ArgentinaSemin Thromb Hemost 2011; 37(07): 856-858
DOI: 10.1055/s-0031-1295635

ABSTRACT

von Willebrand disease (VWD) is a bleeding disorder with variable clinical expression. In this article we describe types, clinical features, genetic testing when needed, genotype/phenotype relationships, and the response to desmopressin (DDAVP) testing, according to our experience. Our findings are possible type 1, 69.6%; type 1, 13.5%; severe type 1, 0 .35%; type 3, 0.55%; type 2A, 9.5%; probable 2B, 0.6%; type 2M, 2.5%; and probable type 2N, 3.4%. The most frequent symptoms are ecchymoses-hematomas and epistaxis, and, in females >over 13 years also menorrhagia. In pregnant patients, assessment of laboratory parameters in months 7 and 8 is recommended to plan the need for prophylaxis at term. DDAVP merits to be considered as the first-choice therapy, including pregnant women and children, and no patient showed significant unwanted effects. Because this is a safe, effective, and affordable therapy, we hope to encourage clinicians, mainly pediatricians and obstetricians, to a wider use of DDAVP, especially in developing countries. We also report two patients with prophylactic treatment.

KEYWORDS

von Willebrand disease - management strategy - genotype/phenotype relationships - DDAVP in women and children - prophylaxis in VWD

REFERENCES

  • 1 Srivastava A. von Willebrand disease in the developing world.  Semin Hematol. 2005;  42 (1) 36-41
    Google Scholar
  • 2 Miller C H, Graham J B, Goldin L R, Elston R C. Genetics of classic von Willebrand's disease. I. Phenotypic variation within families.  Blood. 1979;  54 (1) 117-136
    Google Scholar
  • 3 International Society on Thrombosis and Haematosis. SSC minutes. Available at: http://www.isth.org/default/index.cfm/publications/ssc-minutes/ Accessed October 2010
    Google Scholar
  • 4 Woods A I, Keller L, Kempfer A C, Farias C R, Casais P, Lazzari M A. CSGE to scan the exon 22 of von Willebrand factor gene for diagnosing von Willebrand disease 2N.  Pathophysiol Haemost Thromb. 2006;  35 (1–2) 28 Abstract 1058
    Google Scholar
  • 5 Nichols W L, Hultin M B, James A H 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 (2) 171-232
    Google Scholar
  • 6 Woods A I, Meschengieser S S, Blanco A N et al.. Clinical features and laboratory patterns in a cohort of consecutive Argentinian patients with von Willebrand's disease.  Haematologica. 2001;  86 (4) 420-427
    Google Scholar
  • 7 Federici A B, Mannucci P M, 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;  113 (3) 526-534
    Google Scholar
  • 8 Nitu-Whalley I C, Lee C A, Griffioen A, Jenkins P V, Pasi K J. Type 1 von Willebrand disease—a clinical retrospective study of the diagnosis, the influence of the ABO blood group and the role of the bleeding history.  Br J Haematol. 2000;  108 (2) 259-264
    Google Scholar
  • 9 Onundarson P T, Gudmundsdottir B R, Arnfinnsdottir A V, Kjeld M, Olafsson O. von Willebrand factor does not vary during normal menstrual cycle.  Thromb Haemost. 2001;  85 (1) 183-184
    Google Scholar
  • 10 Meschengieser S S, Alberto M F, Salviú J, Bermejo E, Lazzari M A. Recurrent haemoperitoneum in a mild von Willebrand's disease combined with a storage pool deficit.  Blood Coagul Fibrinolysis. 2001;  12 (3) 207-209
    Google Scholar
  • 11 Favaloro E J, Lillicrap D, Lazzari M A et al.. von Willebrand disease: laboratory aspects of diagnosis and treatment.  Haemophilia. 2004;  10 (Suppl 4) 164-168
    Google Scholar
  • 12 Casais P, Carballo G A, Woods A I et al.. R924Q substitution encoded within exon 21 of the von Willebrand factor gene related to mild bleeding phenotype.  Thromb Haemost. 2006;  96 (2) 228-230
    Google Scholar
  • 13 Woods A I, Kempfer A C, Keller L, Calderazzo J C, Sánchez-Luceros A, Paiva-Palomino J, Lazzari MA. Genotypic diagnosis of VWD: preliminary results in the analysis of exon 28.  J Thromb Haemost. 2009;  7 (Suppl 2) Abstract 610
    Google Scholar
  • 14 Woods A I, Blanco A N, Chuit R et al.. Major haemorrhage related to surgery in patients with type 1 and possible type 1 von Willebrand disease.  Thromb Haemost. 2008;  100 (5) 797-802
    Google Scholar
  • 15 Castaman G, Montgomery R R, Meschengieser S S, Haberichter S L, Woods A I, Lazzari M A. von Willebrand's disease diagnosis and laboratory issues.  Haemophilia. 2010;  16 (Suppl 5) 67-73
    Google Scholar
  • 16 Sánchez-Luceros A, Meschengieser S S, Marchese C et al.. Factor VIII and von Willebrand factor changes during normal pregnancy and puerperium.  Blood Coagul Fibrinolysis. 2003;  14 (7) 647-651
    Google Scholar
  • 17 Noller K L, Bowie E J, Kempers R D, Owen Jr C A. von Willebrand's disease in pregnancy.  Obstet Gynecol. 1973;  41 (6) 865-872
    Google Scholar
  • 18 Kadir R A, Lee C A, Sabin C A, Pollard D, Economides D L. Pregnancy in women with von Willebrand's disease or factor XI deficiency.  Br J Obstet Gynaecol. 1998;  105 (3) 314-321
    Google Scholar
  • 19 Mannucci P M. Use of desmopressin (DDAVP) during early pregnancy in factor VIII-deficient women.  Blood. 2005;  105 (8) 3382
    Google Scholar
  • 20 Sánchez-Luceros A, Meschengieser S S, Turdó K et al.. Evaluation of the clinical safety of desmopressin during pregnancy in women with a low plasmatic von Willebrand factor level and bleeding history.  Thromb Res. 2007;  120 (3) 387-390
    Google Scholar
  • 21 Sánchez-Luceros A, Meschengieser S S, Woods A I et al.. Biological and clinical response to desmopressin (DDAVP) in a retrospective cohort study of children with low von Willebrand factor levels and bleeding history.  Thromb Haemost. 2010;  104 (5) 984-989
    Google Scholar
  • 22 Sánchez-Luceros A, Woods A I, Meschengieser S S, Grosso S, Lazzari M A. Factor VIII and von Willebrand activity are strongly related to the desmopressin biological response in von Willebrand disease.  J Thromb Haemost. 2009;  7 (Suppl 2) Abstract 613
    Google Scholar
  • 23 Berntorp E, de Moerloose P, Ljung R C. The role of prophylaxis in bleeding disorders.  Haemophilia. 2010;  16 (Suppl 5) 189-193
    Google Scholar

Adriana Inés WoodsM.S. 

Instituto de Investigaciones Hematológicas “Mariano R Castex,” Academia Nacional de Medicina de Buenos Aires

Pacheco de Melo 3081, Ciudad Autónoma de Buenos Aires, (C1425AUM), Argentina

Email: aiwoods@hematologia.anm.edu.ar

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