Kellermair Joerg, Ott Helmut W, Spannagl Michael, Tomasits Josef, Kammler Juergen, Blessberger Hermann, Reiter Christian, Steinwender Clemens
1 Department of Cardiology and Internal Intensive Medicine, Kepler University Hospital, Linz, Austria.
2 Department of Hemostasis and Transfusion Medicine, Ludwig-Maximilians University, Munich, Germany.
Clin Appl Thromb Hemost. 2018 Apr;24(3):496-501. doi: 10.1177/1076029617744321. Epub 2017 Dec 4.
Acquired von Willebrand syndrome (AVWS) associated with severe aortic stenosis (AS) has been frequently subclassified into a subtype 2A based on the deficiency of high-molecular-weight (HMW) multimers as it is seen in inherited von Willebrand disease (VWD) type 2A. However, the multimeric phenotype of VWD type 2A does not only include an HMW deficiency but also a decrease in intermediate-molecular-weight (IMW) multimers and an abnormal inner triplet band pattern. These additional characteristics have not been evaluated in AVWS associated with severe AS. Therefore, we recruited N = 31 consecutive patients with severe AS and performed a high-resolution Western blot with densitometrical band quantification to characterize the von Willebrand factor (VWF) multimeric structure and reevaluate the AVWS subtype classification. Study patients showed an isolated HMW VWF multimer deficiency without additional abnormalities of the IMW portions and the inner triplet structure in 65%. In conclusion, the multimeric pattern of AVWS associated with severe AS does neither resemble that seen in AVWS type 2A nor that seen in inherited VWD type 2A. Therefore, a subclassification into a type 2A should not be used.
与严重主动脉瓣狭窄（AS）相关的获得性血管性血友病综合征（AVWS）常根据高分子量（HMW）多聚体缺乏被归类为2A型，就如同遗传性血管性血友病（VWD）2A型那样。然而，VWD 2A型的多聚体表型不仅包括HMW缺乏，还包括中分子量（IMW）多聚体减少以及异常的内部三联体带型。这些额外特征在与严重AS相关的AVWS中尚未得到评估。因此，我们招募了31例连续的严重AS患者，进行了带密度定量的高分辨率蛋白质印迹法，以表征血管性血友病因子（VWF）多聚体结构，并重新评估AVWS亚型分类。研究患者中有65%表现为孤立的HMW VWF多聚体缺乏，而IMW部分和内部三联体结构无其他异常。总之，与严重AS相关的AVWS多聚体模式既不像2A型AVWS，也不像遗传性VWD 2A型。因此，不应使用2A型的分类。
