منابع مشابه
Thrombocytopathy and type 2B von Willebrand disease.
The knowledge gained from "experiments of nature" has always been paramount in identifying key players in pathophysiologic pathways. This is well characterized by naturally occurring bleeding and thrombotic disorders. In most cases, it is the absence of a particular protein that leads to recognition of its importance for normal physiology. On the other hand, gain-of-function mutations highlight...
متن کاملSevere thrombocytopenia, type 2B von Willebrand disease and pregnancy.
VON Willebrand’s Disease (vWD) is the most common inherited bleeding disorder in humans with an estimated incidence as high as 2–3% in the general population. Characterized by abnormal platelet interactions with the subendothelium or other platelets, the disease is caused by changes in the multimeric glycoprotein, von Willebrand’s Factor (vWF). Types 1 and 3 vWD are associated with relative or ...
متن کاملPrevalence of type 2b 'Malmö/New York' von Willebrand disease in Italy: the role of von Willebrand factor gene conversion.
von Willebrand disease type 2B (VWD2B) is due to a unique gain-of-function variant of von Willebrand factor (VWF) that spontaneously interacts with circulating platelets, usually resulting in loss of VWF high molecular weight multimers (HMWM) in plasma and, in most cases, low platelet counts, especially after stress situations [1,2]. Diagnosis of VWD2B is based on heightened ristocetin-induced ...
متن کاملDecreased clearance of von Willebrand factor in a patient with type 2B von Willebrand disease following development of immune thrombocytopenia.
We report a case of concurrent type 2B von Willebrand disease (VWD) and immune thrombocytopenia (ITP). The patient had characteristic loss of von Willebrand factor (VWF) high molecular weight multimers (HMWM) but a normal platelet count in the initial 8 years after diagnosis of type 2B VWD. When he developed severe thrombocytopenia, however, both his VWD indices and VWF HMWM normalized. As his ...
متن کاملComparative analysis of type 2b von Willebrand disease mutations: implications for the mechanism of von Willebrand factor binding to platelets.
von Willebrand factor (vWF) is a multimeric glycoprotein that forms an adhesive link following vascular injury between the vessel wall and its primary ligand on the platelet surface, glycoprotein Ib (GpIb). Type 2b von Willebrand disease (vWD) is a qualitative form of vWD resulting from enhanced binding of vWF to platelets. Molecular characterization of the vWF gene in patients with type 2b vWD...
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ژورنال
عنوان ژورنال: Blood
سال: 2016
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2016-08-729459