The age at which a patient is tested for von Willebrand disease (VWD), a common bleeding disorder, significantly affects their diagnosis, new research from the RCSI has found.

 

According to the study, this finding could be key to addressing current challenges around the misdiagnosis and treatment of patients, and potentially reduce the risk of bleeding complications during surgery and childbirth.

 

VWD is the most common inherited bleeding disorder that prevents blood from clotting properly. It affects approximately 1% of people worldwide and is caused by reduced levels of a protein that helps with clotting, called von Willebrand factor.

 

This makes patients bleed more easily, causing issues such as heavy periods, frequent nosebleeds and bleeding after surgery or childbirth, and can have an impact on quality of life. 

 

Upon diagnosis, patients with VWD are assigned to one of several subtypes that guide their clinical treatment. Correct diagnosis is crucial for effective treatment, especially for individuals with borderline von Willebrand factor levels.

 

Led by Dr Ferdows Atiq and Prof James O’Donnell from the RCSI School of Pharmacy and Biomolecular Sciences, this research analysed data from two national studies from Ireland and the Netherlands and highlighted how the timing of diagnostic testing can significantly influence the assigned subtype of VWD.

 

The analysis of more than 500 patients showed that people with borderline von Willebrand factor levels, ie. moderately low levels, don't form a separate clinical group, contrary to previous assumptions. The diagnostic tests capture a single moment on an age-dependent gradient.

 

This supports the idea that people tested at an older age are more likely to be misdiagnosed with a milder subtype of the disorder, according to the authors.

 

The study was published recently in the journal Blood.