Low von Willebrand factor—unraveling an enigma wrapped in a conundrum

IF 5.5 2区医学 Q1 HEMATOLOGY

Journal of Thrombosis and Haemostasis Pub Date : 2024-12-01 DOI:10.1016/j.jtha.2024.08.015

James S. O’Donnell , Ross I. Baker , Ferdows Atiq

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引用次数: 0

Abstract

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.

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低 VWF--揭开谜团中的谜底。

2021 年 ASH ISTH NHF WFH 指南建议将 VWF 水平为 30-50 IU/dL 且出血表型增加的患者归类为 1 型 VWD，而不是低 VWF，这一建议引起了争议。然而，为了支持这一决定，最近的数据表明，部分定量 VWF 缺乏的患者表现出与年龄相关的演变表型，并证实低 VWF 代表了异质性 1 型 VWD 中的一个亚组。尽管如此，1 型 VWD 的异质性仍给诊断带来巨大挑战。在这篇论坛文章中，我们探讨了一些悬而未决的问题，这些问题对于防止不适当地过度诊断 1 型 VWD 至关重要，同时还能最大限度地提高医疗服务的可及性和减少诊断延误。此外，我们还提出了一种 1 型 VWD 诊断算法。该算法特别关注血浆 VWF 水平在 30-50 IU/dL 范围内、无出血史或出血史极少、尚未面临重大止血挑战的个体。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Thrombosis and Haemostasis 医学-外周血管病

CiteScore

24.30

自引率

3.80%

发文量

321

审稿时长

1 months

期刊介绍： The Journal of Thrombosis and Haemostasis (JTH) serves as the official journal of the International Society on Thrombosis and Haemostasis. It is dedicated to advancing science related to thrombosis, bleeding disorders, and vascular biology through the dissemination and exchange of information and ideas within the global research community. Types of Publications: The journal publishes a variety of content, including: Original research reports State-of-the-art reviews Brief reports Case reports Invited commentaries on publications in the Journal Forum articles Correspondence Announcements Scope of Contributions: Editors invite contributions from both fundamental and clinical domains. These include: Basic manuscripts on blood coagulation and fibrinolysis Studies on proteins and reactions related to thrombosis and haemostasis Research on blood platelets and their interactions with other biological systems, such as the vessel wall, blood cells, and invading organisms Clinical manuscripts covering various topics including venous thrombosis, arterial disease, hemophilia, bleeding disorders, and platelet diseases Clinical manuscripts may encompass etiology, diagnostics, prognosis, prevention, and treatment strategies.