Irish Centre for Vascular Biology, School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland; National Coagulation Centre, St James's Hospital, Dublin, Ireland; Irish-Australian Blood Collaborative (IABC) Network.
Irish-Australian Blood Collaborative (IABC) Network; Western Australia Centre for Thrombosis and Haemostasis, Perth Blood Institute, Murdoch University, Perth, Western Australia, Australia.
J Thromb Haemost. 2024 Dec;22(12):3383-3388. doi: 10.1016/j.jtha.2024.08.015. Epub 2024 Sep 10.
The 2021 ASH ISTH NHF WFH guidelines recommendation that patients with von Willebrand factor (VWF) levels of 30 to 50 IU/dL and an increased bleeding phenotype be categorized as type 1 von Willebrand disease (VWD) rather than Low VWF has proved controversial. However, in support of that decision, recent data have demonstrated that individuals with partial quantitative VWF deficiency exhibit an age-dependent evolving phenotype and confirmed that Low VWF represents a subgroup within heterogeneous type 1 VWD. Nonetheless, type 1 VWD heterogeneity continues to pose significant diagnostic challenges. In this Forum article, we address outstanding issues critical to preventing the inappropriate overdiagnosis of type 1 VWD while maximizing access to healthcare and minimizing diagnostic delays. In addition, we propose an algorithm for type 1 VWD diagnosis. This algorithm pays special attention to individuals with plasma VWF levels in the 30 to 50 IU/dL range who have no or minimal bleeding history and have not yet been exposed to significant hemostatic challenges.
2021 年 ASH ISTH NHF WFH 指南建议,将 VWF 水平为 30 至 50IU/dL 且出血表型增加的患者归类为 1 型血管性血友病(VWD),而不是低 VWF,这一建议引起了争议。然而,支持这一决定的是,最近的数据表明,部分定量 VWF 缺乏的个体表现出年龄依赖性的进行性表型,并证实低 VWF 是异质性 1 型 VWD 中的一个亚组。尽管如此,1 型 VWD 的异质性仍然带来了重大的诊断挑战。在这篇论坛文章中,我们将讨论预防对 1 型 VWD 的不适当过度诊断的关键问题,同时最大限度地获得医疗保健并尽量减少诊断延迟。此外,我们还提出了 1 型 VWD 的诊断算法。该算法特别关注血浆 VWF 水平在 30 至 50IU/dL 范围内的个体,这些个体没有或仅有轻微的出血史,且尚未经历过重大止血挑战。