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DOI: 10.1055/s-0031-1281044
Diagnosis and Management of von Willebrand Disease in a Single Institution of Argentina
Publication History
Publication Date:
18 November 2011 (online)
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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
- 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
- 3 International Society on Thrombosis and Haematosis. SSC minutes. Available at: http://www.isth.org/default/index.cfm/publications/ssc-minutes/ Accessed October 2010
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 19 Mannucci P M. Use of desmopressin (DDAVP) during early pregnancy in factor VIII-deficient women. Blood. 2005; 105 (8) 3382
- 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
- 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
- 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
- 23 Berntorp E, de Moerloose P, Ljung R C. The role of prophylaxis in bleeding disorders. Haemophilia. 2010; 16 (Suppl 5) 189-193
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