RCSI study finds new subgroup of common bleeding disorder with important implications for patient care
New research by RCSI University of Medicine and Health Sciences has identified a previously unrecognised subgroup of patients with von Willebrand disease, the most common inherited bleeding disorder. These findings challenge current diagnostic practices and highlight a need to adapt clinical guidelines to ensure patient safety.
Von Willebrand disease affects as many as 1-in-1000 individuals and is caused by a deficiency or dysfunction of von Willebrand factor (VWF), a protein that helps form blood clots. Patients are usually diagnosed based on reduced levels of VWF or severe functional defects of VWF in the blood.
However, this study demonstrated how a subset of patients had normal quantities of VWF in the blood but still exhibited bleeding symptoms due to mild functional defects in the protein.
“Our results demonstrated that nearly half of patients with ‘low VWF’ in reality had mild functional defects of VWF instead of reductions in the amount of VWF. These patients would have been missed if functional VWF assays were not performed,” said Professor James O’Donnell, Professor of Vascular Biology at RCSI’s School of Pharmacy and Biomolecular Sciences and Director of the Irish Centre for Vascular Biology at RCSI.
“By acknowledging these patients as a distinct clinical subgroup, we can improve their quality of life and ensure they receive appropriate care,” he added.
Official recognition of this subgroup within international guidelines and hospitals, as recommended by the researchers, would enable better management of bleeding symptoms and efforts to prevent bleeding during high-risk situations, such as during surgery and childbirth.
“This discovery adds to the growing understanding that von Willebrand disease encompasses a spectrum of defects of VWF,” said Dr Ferdows Atiq, Senior Research Fellow, RCSI School of Pharmacy and Biomolecular Sciences and lead author of the study. “Since we have found that the mild functional defects in VWF were not explained by genetic changes, future research is required to investigate the biological mechanisms of this phenomenon.”
The study examined over 400 patients from both Irish and Dutch cohorts. It was carried out by RCSI in collaboration with the National Coagulation Centre in St James’s Hospital, Dublin and Erasmus University Medical Centre, Rotterdam, The Netherlands.
Published in the prestigious journal Blood, the full paper is available here.