Von Willebrand disease in children: diagnosis and management of a pediatric cohort in one single center in Argentina

Semin Thromb Hemost. 2011 Jul;37(5):560-7. doi: 10.1055/s-0031-1281043. Epub 2011 Nov 18.

Abstract

Clinical and laboratory data of children with von Willebrand disease (VWD) types have been derived from retrospective studies and small case series. This article reports on the clinical and laboratory data of a large pediatric cohort in one single Argentinian center. The biological and clinical responses to desmopressin and replacement therapies are also described. Over a 15-year period, 194 of 1150 children (16.9%) were diagnosed as having type 1 VWD (80%), type 2 VWD (19%), and type 3 VWD (1%). The distribution of the different type 2 VWD subtypes was type 2A VWD, 43%; type 2B VWD, 32%; type 2M VWD, 19%; and type 2N VWD, 6%. Eighty patients with type 1 VWD and 12 patients with type 2 VWD were prospectively evaluated to desmopressin (DDAVP) response. A complete response was observed in all children with type 1 VWD, whereas 40% of the children with severe type 1 VWD and with type 2 VWD achieved a complete response. All the children who received DDAVP as prophylaxis or treatment for bleeding had good clinical evolution. Considering the restricted availability of specialized hemostasis centers, we believe our clinical and laboratory approach appropriate for the detection of patients with different types of VWD. Further studies are necessary to determine epidemiological aspects of VWD in Argentina to estimate the necessary facilities and trained personnel for the diagnosis and management of patients with VWD.

MeSH terms

  • Adolescent
  • Argentina
  • Child
  • Child, Preschool
  • Coagulants / therapeutic use*
  • Cohort Studies
  • Deamino Arginine Vasopressin / therapeutic use
  • Factor VIII / therapeutic use
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Male
  • Mutation
  • Treatment Outcome
  • von Willebrand Diseases / diagnosis*
  • von Willebrand Diseases / drug therapy*
  • von Willebrand Diseases / genetics
  • von Willebrand Factor / genetics
  • von Willebrand Factor / therapeutic use

Substances

  • Coagulants
  • von Willebrand Factor
  • Factor VIII
  • Deamino Arginine Vasopressin