2018年3月22日 · Type 2B von Willebrand disease (VWD) is an inherited bleeding disorder caused by changes in von Willebrand factor (VWF) that enhance binding of VWF to GPIb on platelets. Although this disorder is seemingly well defined because of this single molecular defect, in reality type 2B VWD is a clinically heterogeneous disorder that can be difficult to ...

2024年5月15日 · In type 2B, the VWF attaches to platelets at the wrong time (when there is no injury). The body removes the platelets attached to VWF, causing a reduced amount of both platelets and VWF in the blood when needed to form a clot.

Type 2 vWD is the second-most common type of vWD (after type 1 vWD), representing about 15 to 30 percent of all cases. This subtype is distinguished from other vWD variants by a gain-of-function defect in von Willebrand factor (vWF) that causes enhanced binding to platelets, rather than binding to the site of the injury to the blood vessel.

One of the more intriguing vWD subtypes is the gain-of-function mutation designated vWD-type 2B (5). In this case, single amino acid mutations within the GP-Ib-IX–binding domain of vWF lead to an altered conformation that supports the soluble interaction of vWF with platelets in the circulation (Figure 1 A and refs. 6, 7).

2018年3月22日 · Type 2B von Willebrand disease (VWD) is an inherited bleeding disorder caused by changes in von Willebrand factor (VWF) that enhance binding of VWF to GPIb on platelets. Although this disorder is seemingly well defined because of this single molecular defect, in reality type 2B VWD is a clinically h …

Both PT-VWD and type 2B VWD represent an enhanced binding between the plasma von Willebrand factor (VWF) to its platelet ligand, glycoprotein Ib alpha ( GP1BA). However, type 2B VWD results from a functionally abnormal VWF molecule, whereas PT-VWD is caused by hyperresponsive platelets due to defects in the platelet GP1BA gene.

2018年2月1日 · 2B型 血管 性血友病（VWD）是一种常染色体显性遗传的出血性疾病，由 血管 假性血友病因子（VWF）结合血小板上的GPIb的能力增强所导致。 虽然该疾病已被明确是由该单分子缺陷引起的，但现实中，2B型VWD在 临床 上具有异质性（即表现不统一），难以识别和 管理。 诊断 标准：既往皮肤粘膜出血史，检验VWF结合血小板的能力增强和（或）携带2B VWD突变，符合常染色体显性遗传的家族病史。 虽然不是所有患者都有血小板减少的表现，但常见血小板 …

Type 2B von Willebrand disease (VWD) is an inherited bleeding disorder caused by changes in von Willebrand factor (VWF) that enhance binding of VWF to GPIb on platelets.

Type 2B von Willebrand disease (VWD) accounts for fewer than 5% of all VWD patients. In this disease, mutations in the A1 domain result in increased von Willebrand factor (VWF) binding to platelet GPIbα receptors, causing increased platelet clearance and preferential loss of high molecular weight VW …

2015年2月5日 · Type 2B is characterized by mutations in the A2 domain causing an increased affinity of VWF for platelet GpIb, resulting in enhanced ristocetin-induced platelet agglutination (RIPA).