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This year marks a century since the initial identification of VWD – a bleeding disorder thought to be more common than haemophilia. Today on World Haemophilia Day, we meet world leading VWD researcher, NSW Health Pathology’s Professor Emmanuel Favaloro.
Every year on 17 April, World Haemophilia Day is recognised worldwide to increase awareness of haemophilia, von Willebrand disease (VWD) and other inherited bleeding disorders.
The World Federation for Hemophilia (WFH) estimates that over 75% of people living with haemophilia worldwide have not yet been identified and diagnosed. There are several types of haemophilia, with the most common being Haemophilia A (marked deficiency in clotting factor VIII) followed by Haemophilia B (marked deficiency in clotting factor IX).
The diagnostic situation for VWD, a bleeding disorder believed to be more common than haemophilia, is globally known to be even worse than that for haemophilia. VWD is due to a marked deficiency in a haemostatic protein called von Willebrand factor (VWF).
NSW Health Pathology utilises a contemporary panel of laboratory assays to aide in the diagnosis of both haemophilia and VWD, with these tests being harmonised across different laboratories within the network. Much of this work has been led by one of our Principal Scientists, Professor Emmanuel J Favaloro, based at Westmead Hospital.
Professor Favaloro has published over 130 papers on VWD. The year 2026 marks the 100-year anniversary of the recognition of VWD. Prof Erik von Willebrand published his seminal work in 1926, although he called his newly identified bleeding disorder “Hereditar pseudoemophili” (or “hereditary pseudohemophilia”).
Professor Favaloro has been ranked by ScholarGPS to be within the top 5 in the world for his work on VWD, and number one in the world for the field of hemostasis.
“The theme of World Haemophilia Day this year is ‘Diagnosis: First Step to Care’. Here at NSW Health Pathology our focus is on improving disease diagnosis of people in NSW, but also geographically more widely due to dissemination of world best practice from our world-renowned scientists and pathologists,” Professor Favaloro said.
“This year being the 100 year anniversary of the initial identification of VWD, we aim to provide greater access to care for the large number of people living with haemophilia, or VWD, or indeed any bleeding disorder, who are yet to be identified or properly diagnosed.
“Through my research, I hope to bring improved diagnosis and thus also treatment options to people living with bleeding disorders and help improve their quality of life.
“Although bleeding disorders can lead to serious complications, a diagnosis need not prevent people from living a normal life.”
