An update on type 2B von Willebrand disease

Sameh Mikhail, Ehab Saad Aldin, Michael Streiff, Amer Zeidan

Research output: Contribution to journalReview articlepeer-review

Abstract

Type 2B von Willebrand disease (VWD) accounts for fewer than 5% of all VWD patients. In this disease, mutations in the A1 domain result in increased von Willebrand factor (VWF) binding to platelet GPIbα receptors, causing increased platelet clearance and preferential loss of high molecular weight VWF multimers. Diagnosis is complicated because of significant clinical variations even among patients with identical mutations. Platelet transfusion often provides suboptimal results since transfused platelets may be aggregated by the patients' abnormal VWF. Desmopressin may cause a transient decrease in platelet count that could lead to an increased risk of bleeding. Replacement therapy with factor VIII/VWF concentrates is the most effective approach to prevention and treatment of bleeding in type 2B VWD.

Original languageEnglish (US)
Pages (from-to)217-231
Number of pages15
JournalExpert review of hematology
Volume7
Issue number2
DOIs
StatePublished - Apr 2014

Keywords

  • Bleeding disorder
  • deamino arginine vasopressin
  • inherited thrombocytopenia
  • type 2B von Willebrand disease
  • von Willebrand factor

ASJC Scopus subject areas

  • Hematology

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