Laboratory for Hemostasis, Inflammation & Thrombosis, Unité Mixed de Recherche (UMR)-1176, Institut National de la Santé et de la Recherche Médicale (Inserm), Université Paris-Saclay, Le Kremlin-Bicêtre, France.
Haemophilia. 2022 May;28 Suppl 4:5-10. doi: 10.1111/hae.14518.
Deficiency or dysfunction of von Willebrand factor (VWF) is associated with a bleeding disorder known as von Willebrand disease (VWD). The clinical manifestations of VWD are heterogeneous, and are in part dictated by the structural or functional defects of VWF. The tools to control bleeding in VWD are dominated by VWF concentrates, desmopressin and antifibrinolytic therapy. In view of these treatments being considered as effective, it is surprising that quality-of-life studies consistently demonstrate a significant mental and physical burden in VWD patients, particularly in women. Apparently, the current weaponry to support the management of VWD is insufficient to fully address the needs of the patients. It is important therefore to continue to search for innovative treatment options which could better serve the VWD patients. In this short review, two of such options are discussed in more detail: emicizumab to correct for the deficiency of factor VIII (FVIII), and the pegylated aptamer BT200 to increase endogenous levels of the VWF/FVIII complex.
血管性血友病因子（VWF）的缺乏或功能障碍与一种称为血管性血友病（VWD）的出血性疾病有关。VWD 的临床表现具有异质性，部分取决于 VWF 的结构或功能缺陷。控制 VWD 出血的方法主要是使用 VWF 浓缩物、去氨加压素和抗纤维蛋白溶解治疗。鉴于这些治疗方法被认为是有效的，令人惊讶的是，生活质量研究一致表明 VWD 患者存在明显的身心负担，尤其是女性。显然，目前用于支持 VWD 管理的手段不足以完全满足患者的需求。因此，重要的是继续寻找创新的治疗选择，以更好地为 VWD 患者服务。在这篇简短的综述中，详细讨论了其中两种选择：emicizumab 用于纠正因子 VIII（FVIII）的缺乏，以及聚乙二醇化适体 BT200 用于增加内源性 VWF/FVIII 复合物的水平。
