15 January 2024

The age at which someone is tested for von Willebrand disease (VWD) significantly affects their diagnosis, according to new analysis led by Irish researchers.

The findings could be important in addressing the challenges in the misdiagnosis and treatment of patients, and could help to reduce the risk of bleeding complications during surgery and childbirth, researchers say.

The study, led by Dr Ferdows Atiq and Professor James O’Donnell at RCSI School of Pharmacy and Biomolecular Sciences, is published in the latest edition of Blood.

They analysed data from two national studies from Ireland and the Netherlands and examined how the timing of diagnostic testing can significantly influence the assigned subtype of VWD, which an individual receives when diagnosed.

When they looked at more than 500 patients, the team found that patients with borderline von Willebrand factor (VWF) levels did not form a separate clinical group as was previously believed.

Instead, the researchers said, the diagnostic tests capture a single moment on an age-dependent gradient, as many people’s VWF naturally rise as they get older. This, the researchers argue, supports the idea that people tested at an older age are more likely to be misdiagnosed with a milder subtype of the disorder.

“This study has revealed that age plays a critical role in the diagnosis of VWD, potentially leading to inaccuracies in both diagnosis and treatment” said Professor O’Donnell, director of RCSI’s Irish Centre for Vascular Biology.

“The findings should encourage a review to our approach to testing for VWD to ensure that age-specific factors are integrated to improve the quality of life for patients and minimise risk”.

As people with VWD get older, they respond better to a particular type of treatment, which suggests older patients may require less medication. This finding, write the team, could open new possibilities for treating older patients with VWD.

Conversely, a subgroup of patients with VWD whose VWF levels do not improve over time may constitute a distinct subgroup, the researchers claim.

Collaborators in the study were the National Coagulation Centre in St James’s Hospital, Dublin and Erasmus University Medical Centre, Rotterdam.


Atiq F, Blok R, van Kwawegen C, Doherty D, Lavin M, van der Bom JG, O'Connell NM, de Meris J, Ryan K, Schols SEM, Byrne MB, Heubel-Moenen FCJI, van Galen KPM, Preston RJS, Cnossen MH, Fijnvandraat K Prof, Baker RI, Meijer K, James PD, Di Paola J, Eikenboom JCJ, Leebeek FWG, O'Donnell JS. (2023) “Type 1 VWD classification revisited - novel insights from combined analysis of the LoVIC and WiN studies.” Blood, doi: 10.1182/blood.2023022457

Link: https://ashpublications.org/blood/article-abstract/doi/10.1182/blood.2023022457/506722/Type-1-VWD-classification-revisited-novel-insights

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