New cause found for VWD

Scientists at Erasmus University Medical Center have discovered that some cases of VWD are not caused by defects in the VWF gene itself but by problems in the cellular process that secretes von Willebrand factor (VWF). Their research, including work with rare MADDgene patients, shows that disruptions in this secretion pathway can lead to low VWF levels and may open the door to new diagnoses and more targeted treatments.

Publication: A novel cause of type 1 von Willebrand disease: impaired exocytosis of Weibel-Palade bodies due to biallelic MADD variants | Blood | American Society of Hematology – 23 rd October 2025