Platelet-type Von Willebrand disease: three decades in the life of a rare bleeding disorder

Blood Rev. 2011 Jul;25(4):147-53. doi: 10.1016/j.blre.2011.03.003. Epub 2011 Apr 15.


Almost thirty years has passed since the description of platelet-type von Willebrand disease. Named initially pseudo-von Willebrand disease, this mild mucocutaneous bleeding disorder has an intrinsic defect in platelets rather than VWF. Due to its unique features and its similarity to the more common type 2B VWD, many investigators were intrigued by its nature, pathophysiology and molecular genetics aspects. The challenges to diagnose this disorder have created debate in literature about the best method of discrimination from type 2B VWD. The recent development of the PT-VWD mouse model carries huge potential for further understanding of the disease as well as the platelet defect and its influence on other biological processes. This review provides a basic as well as updated knowledge about the PT-VWD including history, clinical and laboratory features and treatment in addition to the diagnostic challenges with a focus on molecular genetics aspects and PT-VWD research.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Blood Platelets / metabolism
  • Databases, Factual
  • Disease Models, Animal
  • Humans
  • Mice
  • Mice, Transgenic
  • Protein Binding
  • Receptors, Cell Surface / genetics
  • Receptors, Cell Surface / metabolism
  • Registries
  • von Willebrand Diseases* / genetics
  • von Willebrand Diseases* / metabolism
  • von Willebrand Diseases* / therapy
  • von Willebrand Factor / metabolism


  • Receptors, Cell Surface
  • von Willebrand Factor

Supplementary concepts

  • Von Willebrand disease, platelet type