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Von Willebrand disease in Sweden: demography and treatment

L Tengborn1

  • 1Haemophilia Centre, Department of Medicine, Sahlgrenska University Hospital, Göteborg, Sweden. koagulationscentrum@sahlgrenska.se

Haemophilia : the Official Journal of the World Federation of Hemophilia
|February 13, 2013
PubMed

Insights

This study investigates von Willebrand disease (VWD) in Sweden, identifying genetic mutations in type 3 VWD patients and evaluating treatment efficacy. Findings inform VWD diagnosis and management strategies.

Area of Science:

  • Hematology
  • Genetics
  • Pharmacology

Background:

  • Von Willebrand disease (VWD) registration in Sweden is incomplete, hindering comprehensive understanding.
  • Coagulation assays have identified 47 patients with type 3 VWD.
  • Genetic analysis revealed 21 type 3 probands are homozygous for the same mutation.

Purpose of the Study:

  • To assess the current status of VWD patient registration in Sweden.
  • To investigate the genetic basis of type 3 VWD.
  • To evaluate the effectiveness of current VWD treatment protocols.

Main Methods:

  • Patient registration and diagnostic data collection.
  • Coagulation assays for VWD phenotyping.
  • DNA studies for mutation analysis at Karolinska Institute.

Main Results:

  • Forty-seven type 3 VWD patients diagnosed via coagulation assays.
  • Twenty-one type 3 probands identified as homozygous for a specific mutation.
  • Estimated 27,000 heterozygous individuals if VWD is autosomal dominant, though inheritance mode requires further settlement.
  • Desmopressin + tranexamic acid effective for type 1 VWD.
  • Haemate (Centeon) effective for type 3 VWD.
  • Type 2 VWD treatment requires individualization based on desmopressin response.

Conclusions:

  • VWD patient registration in Sweden requires further completion.
  • A specific mutation is prevalent in Swedish type 3 VWD patients.
  • Current treatments show efficacy for type 1 and type 3 VWD, with type 2 requiring personalized management.

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