Blood Adv. 2019 Nov 12;3(21):3481-3487. doi: 10.1182/bloodadvances.2019000368.
The management of von Willebrand disease (VWD) is based upon the dual correction of the primary hemostasis defect, due to the inherited deficiency of von Willebrand factor (VWF), and of the secondary defect of factor VIII coagulant activity (FVIII:C), due to the loss of binding and stabilization by VWF of this intrinsic coagulation factor in flowing blood. The traditional therapeutic weapons (the synthetic derivative of the antidiuretic hormone desmopressin and plasma-derived VWF/FVIII concentrates) are able to transiently correct both the defects. With the goal of tackling the primary deficiency in the disease, that is, VWF, but at the same time exploiting the normal capacity of patients to produce FVIII, the novel approach of replacing only VWF was implemented in the last 10 years. Following the manufacturing of a concentrate fractionated from human plasma and of one obtained by recombinant DNA technology, clinical studies have shown that VWF-only products correct not only the primary VWF deficiency but also the secondary FVIII:C deficiency. The demonstrated efficacy of these products in various clinical situations and, ultimately, in such a hemostasis-challenging context as surgery testifies to the effectiveness and safety of this approach. It remains to be seen whether VWF-only products are efficacious and safe in still-unexplored situations, such as use in children; the long-term use for prophylaxis; and in recurrent gastrointestinal (GI) bleeding due to angiodysplasia, a major therapeutic problem in VWD.
血管性血友病(VWD)的管理基于双重纠正,一方面是由于血管性血友病因子(VWF)遗传性缺乏导致的主要止血缺陷,另一方面是由于 VWF 结合和稳定内在凝血因子 FVIII:C 在血流中的作用丧失导致的次要因子 VIII 凝血活性(FVIII:C)缺陷。传统的治疗方法(抗利尿激素类似物去氨加压素的合成衍生物和血浆源性 VWF/FVIII 浓缩物)能够暂时纠正这两种缺陷。为了治疗疾病的主要缺陷,即 VWF,但同时利用患者产生 FVIII 的正常能力,在过去 10 年中,采用了仅替代 VWF 的新方法。在制造了从人血浆中分离的浓缩物部分和通过重组 DNA 技术获得的浓缩物部分之后,临床研究表明,VWF 单一组分产品不仅可以纠正主要的 VWF 缺乏,还可以纠正次要的 FVIII:C 缺乏。这些产品在各种临床情况下的有效性,最终在手术等止血挑战性环境中的有效性,证明了这种方法的有效性和安全性。VWF 单一组分产品在尚未探索的情况下(如在儿童中使用)、用于预防的长期使用以及由于血管发育不良导致的复发性胃肠道(GI)出血等情况下是否有效和安全,仍有待观察,血管发育不良是 VWD 的一个主要治疗问题。