Does the VWF:CB Assay Help to Diagnose von Willebrand Factor Deficiency in Patients With a Bleeding Disorder of Unknown Cause?

IF 2.2 4区医学 Q3 HEMATOLOGY

International Journal of Laboratory Hematology Pub Date : 2024-09-20 DOI:10.1111/ijlh.14371

Marc Trossaërt, Fabienne Genre-Volot, Valérie Horvais, Catherine Ternisien, Pierre Boisseau, Marc Fouassier, Nicolas Drillaud, Benjamin Gillet, Morgane Péré, Antoine Babuty, Emmanuelle Jeanpierre, Emmanuel de Maistre

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引用次数: 0

Abstract

Introduction

The entity entitled bleeding disorder of unknown cause (BDUC) qualifies individuals displaying a mild haemorrhagic profile but normal routine coagulation tests. This study was designed to evaluate whether collagen-binding assay for von Willebrand Factor (VWF) measurement (VWF:CB) could allow to diagnose VW disease in such patients.

Methods

A large screening was conducted prospectively in two University Hospitals, using the bleeding assessment tool (BAT) recommended by the International Society of Thrombosis and Hemostasis. Patients with an abnormal BAT were confirmed to have a normal complete hemostatic evaluation. A large range of VWF assays was then carried out on a new blood sample for the 68 individuals (91% women) thus identified. Of note, five VWF:CB using different types of collagen were performed, as well as a comprehensive sequencing of the VWF gene.

Results

Of this cohort, only 3 individuals (all blood group O), had a VWF:CB between 40 and 50 IU/dL. No unknown anomaly of the VWF gene was disclosed. Of note, 54% of these patients had unexplained abnormal occlusion times on PFA-200.

Conclusion

This study identified 68 cases of BDUC, after screening of a large population, indicating a low incidence. Only 3 cases were potentially confirmed as displaying moderate von Willebrand disease. VWF:CB tests were globally normal in the 65 other patients of the cohort.

Trial Registration

ClinicalTrials.gov identifier: NCT0279220.

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VWF:CB 检测法是否有助于诊断不明原因出血性疾病患者的冯-威廉因子缺乏症？

简介原因不明的出血性疾病（BDUC）是指出血性症状轻微但常规凝血检测正常的患者。本研究旨在评估冯-威廉因子（VWF）胶原结合测定（VWF:CB）是否能诊断此类患者的冯-威廉因子疾病：采用国际血栓与止血学会（International Society of Thrombosis and Hemostasis）推荐的出血评估工具（BAT），在两家大学医院进行了大规模前瞻性筛查。对 BAT 异常的患者进行了全面止血评估，确认其止血功能正常。随后，对由此确定的 68 名患者（91% 为女性）的新血样进行了大量的 VWF 检测。值得注意的是，还使用不同类型的胶原蛋白进行了五次 VWF:CB 检测，并对 VWF 基因进行了全面测序：结果：在这批人中，只有 3 人（均为 O 型血型）的 VWF:CB 值在 40 至 50 IU/dL 之间。没有发现任何 VWF 基因的未知异常。值得注意的是，其中 54% 的患者在 PFA-200 检测中出现了原因不明的异常闭塞时间：这项研究在对大量人群进行筛查后发现了 68 例 BDUC，表明其发病率较低。只有 3 例可能被证实为中度 von Willebrand 病。其他 65 名患者的 VWF:CB 检测结果均正常：试验注册：ClinicalTrials.gov identifier：试验注册：ClinicalTrials.gov identifier：NCT0279220。

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

International Journal of Laboratory Hematology 医学-血液学

CiteScore

4.50

自引率

6.70%

发文量

211

审稿时长

6-12 weeks

期刊介绍： The International Journal of Laboratory Hematology provides a forum for the communication of new developments, research topics and the practice of laboratory haematology. The journal publishes invited reviews, full length original articles, and correspondence. The International Journal of Laboratory Hematology is the official journal of the International Society for Laboratory Hematology, which addresses the following sub-disciplines: cellular analysis, flow cytometry, haemostasis and thrombosis, molecular diagnostics, haematology informatics, haemoglobinopathies, point of care testing, standards and guidelines. The journal was launched in 2006 as the successor to Clinical and Laboratory Hematology, which was first published in 1979. An active and positive editorial policy ensures that work of a high scientific standard is reported, in order to bridge the gap between practical and academic aspects of laboratory haematology.