Platelet-type von Willebrand disease

Definition:

Platelet-type von Willebrand disease (PT-VWD) is an autosomal dominant bleeding disorder caused by gain-of-function mutations of GP1BA gene coding for the platelet surface glycoprotein Ib alpha protein, the receptor for the adhesive protein von Willebrand factor (VWF). PT-VWD is unique among platelet disorders because of platelet hyperresponsiveness rather than decreased function. In PT-VWD patients, platelets bind the VWF and agglutinate spontaneously. This results in thrombocytopenia and reduction of plasma VWF as platelets are removed from circulation. Of note, there is a very similar disorder, type 2B von Willebrand disease (VWD) [DS:H02092], to be taken into consideration in differential diagnosis.

References:

[1]. Carlo L Balduini, et al. Genetics of familial forms of thrombocytopenia. Hum Genet. 2012 Dec;131(12):1821-32. [Content Brief]

[2]. H J Weiss, et al. Pseudo-von Willebrand's disease. An intrinsic platelet defect with aggregation by unmodified human factor VIII/von Willebrand factor and enhanced adsorption of its high-molecular-weight multimers. N Engl J Med. 1982 Feb 11;306(6):326-33. [Content Brief]

[3]. J L Miller, et al. Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease. Proc Natl Acad Sci U S A. 1991 Jun 1;88(11):4761-5. [Content Brief]

[4]. Maha Othman, et al. Platelet-type von Willebrand disease: a rare, often misdiagnosed and underdiagnosed bleeding disorder. Semin Thromb Hemost. 2011 Jul;37(5):464-9. [Content Brief]

[5]. Maha Othman, et al. Platelet-type von Willebrand disease: new insights into the molecular pathophysiology of a unique platelet defect. Semin Thromb Hemost. 2013 Sep;39(6):663-73. [Content Brief]

[6]. Maha Othman, et al. Platelet-type Von Willebrand disease: three decades in the life of a rare bleeding disorder. Blood Rev. 2011 Jul;25(4):147-53. [Content Brief]

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