A family having type 2B von Willebrand disease with an R1306W mutation: Severe thrombocytopenia leads to the normalization of high molecular weight multimers
A family having type 2B von Willebrand disease with an R1306W mutation: Severe thrombocytopenia leads to the normalization of high molecular weight multimers
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DOI：
10.1016/j.thromres.2009.08.012
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发表时间：
2010-02-01
影响因子：
7.5
通讯作者：
Kondo, Naomi
中科院分区：
文献类型：
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作者：
Ozeki, Michio;Kunishima, Shinji;Kondo, Naomi
在2B型血管性血友病（2B VWD）中，异常的血管性血友病因子（VWF）自发地与血小板结合。这导致VWF的高分子量多聚体（HMWM）的清除并导致血小板减少症。在此，我们报告一个2B VWD的家庭与R1306W突变引起血小板减少症与巨大血小板。本研究中最重要的发现是VWF值与血小板计数相关的动态变化。当先证者（2岁）出现严重血小板减少时，其HMWM正常，但血小板计数恢复后，血液学检查显示低水平的VWF和缺乏HMWM。他那受影响的妹妹也表现出类似的现象。这些结果表明，严重的血小板减少导致血浆中VWF HMWM的清除率降低和VWF HMWM的恢复。我们必须考虑2B VWD的情况下，感染或其他应激条件下复发性血小板减少症。(C)2009爱思唯尔有限公司保留所有权利。
In type 2B von Willebrand disease (2B VWD), abnormal von Willebrand factor (VWF) spontaneously binds to platelets. This leads to the clearance of the high molecular weight multimers (HMWM) of VWF and results in thrombocytopenia. Herein we report a family of 2B VWD with an R1306W mutation which caused thrombocytopenia with giant platelets. The most important finding in this study is dynamic changes in VWF values in association with platelet counts. When the proband (2 years of age) had severe thrombocytopenia, his HMWM were normal, however, hematological examination showed a low level of VWF and a lack of HMWM after platelet count recovered. His affected sister also exhibited similar phenomenona. These results suggest that the severe thrombocytopenia leads to decreased clearance of VWF HMWM and restoration of VWF HMWM in plasma. We must consider 2B VWD in the case of recurrent thrombocytopenia following infection or other stress condition. (C) 2009 Elsevier Ltd. All rights reserved.