2B or not 2B: when VWF is not a good platelet friend

Castaman, Giancarlo

doi:10.1182/blood-2013-08-522458

Cited by 2 publications

(1 citation statement)

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“…18 VWD2B appears to not only be a disorder of a plasma hemostatic protein, but also of platelets, suggesting that, in addition to VWF/factor VIII concentrates, transfusion of normal platelets may be justified in VWD2B patients with bleeding and worsening of their thrombocytopenia due to hemostatic stress situations. 18 Furthermore, recent studies from the same group demonstrated that also platelet dysfunction is present in VWD2B. 19 A dysregulated platelet signaling upon binding to GpIb-α, which severely impairs platelet aggregation, secretion and platelet spreading was in fact demonstrated on the basis of a decreased activation of the platelet fibrinogen integrin receptor αIIbβ3 as a consequence of type 2B VWF binding to GpIb-α.…”

Section: How Type 2b Vwf Influences Plateletsmentioning

confidence: 99%

Type 2B von Willebrand Disease: A Matter of Plasma Plus Platelet Abnormality

Castaman

Federici

2016

Semin Thromb Hemost

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Type 2B von Willebrand disease (VWD2B) is a rare, autosomal-dominant inherited bleeding disorder, characterized by an enhanced ristocetin-induced platelet aggregation in platelet-rich plasma and often with variable degree of thrombocytopenia and loss of high-molecular-weight multimers von Willebrand factor (VWF). All these phenomena are caused by a mutant VWF, normally synthesized and assembled by endothelial cells, but with heightened affinity binding to the platelet receptor glycoprotein Ib-α (GpIb-α). When this abnormal VWF is released into the circulation and under specific clinical circumstances, in vivo platelet clumping is observed. Mutations, invariably clustered in exon 28 of the VWF gene encoding for the VWF A1 domain involved in VWF binding to GpIb-α, are responsible for VWD2B phenotype. Clinical and laboratory phenotype appears strongly related to the type of VWF-causative mutations. However, recent evidences suggest that a true platelet defect is also present in this type, with several morphological and functional abnormalities being detected in a subset of VWD2B patients.

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Section: How Type 2b Vwf Influences Plateletsmentioning

confidence: 99%