Journal
BLOOD REVIEWS
Volume 25, Issue 4, Pages 147-153Publisher
CHURCHILL LIVINGSTONE
DOI: 10.1016/j.blre.2011.03.003
Keywords
RIPA; GP1BA; GPIb alpha; Type 2B VWD; Platelet function defects
Categories
Funding
- Canadian Hemophilia Society
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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. (C) 2011 Elsevier Ltd. All rights reserved.
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