von Willebrand disease

Definition:

Von Willebrand disease (VWD) is the most common autosomally inherited bleeding disorder characterized by abnormal quantity or quality of von Willebrand factor (VWF). Type 1 VWD exhibits a mild to moderate reduction in functionally normal VWF; type 2 VWD involves the expression of functionally abnormal VWF (further subdivided into types 2A, 2B, 2M, and 2N); and type 3 VWD presents the virtually complete absence of VWF. Clinical symptoms of VWD include predominantly mild mucosal bleeding. Joint bleeding can occur in the most severe forms.

References:

[1]. Christopher Ng, et al. Diagnostic approach to von Willebrand disease. Blood. 2015 Mar 26;125(13):2029-37. [Content Brief]

[2]. David Lillicrap, et al. von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy. Blood. 2013 Nov 28;122(23):3735-40. [Content Brief]

[3]. E A Von Willebrand, et al. Hereditary pseudohaemophilia. Haemophilia. 1999 May;5(3):223-31; discussion 222. [Content Brief]

[4]. J C Roberts, et al. Laboratory diagnosis of von Willebrand disease. Int J Lab Hematol. 2015 May;37 Suppl 1(Suppl 1):11-7. [Content Brief]

[5]. Z P Zhang, et al. Mutations of von Willebrand factor gene in families with von Willebrand disease in the Aland Islands. Proc Natl Acad Sci U S A. 1993 Sep 1;90(17):7937-40. [Content Brief]

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