First description of the disease
In 1926, Erik von Willebrand first described the inherited bleeding disorder with features suggesting that it was distinct from haemophilia. Today it is known as von Willebrand disease. What differentiated this bleeding disorder from classical haemophilia was that it appeared not to be associated with muscle and joint bleeding and it affected both men and women, rather than just men.
Erik von Willebrand made his observations in several members of a large family living on the island of Föglö in the Åland archipelago in the Baltic Sea. His first case was a girl of 5 years old with marked and recurrent bleeding tendencies, named Hjördis S., who was brought to Helsinki for a consultation. Both her mother and father belonged to families with histories of bleeding.
The girl was the ninth of 11 children, of whom seven had experienced bleeding symptoms. Four of her sisters had died from uncontrolled bleeding at an early age. Hjördis herself had experienced several severe episodes of bleedings from the nose and lips and following tooth extractions, as well as bleeding from the ankle. At the age of 3 years, she bled for 3 days from a deep wound in her lip. The bleed was so severe that she almost lost consciousness and had to be hospitalised for 10 weeks. At the age of 13, she bled to death from menstrual bleeding.
Intrigued by the girl’s disease and her family history, Erik von Willebrand travelled to the Åland islands to study the disease further. He mapped the pedigree and found that 23 of the 66 family members had bleeding problems. He concluded that this condition was a previously unknown form of haemophilia, affecting both genders, and termed it hereditary pseudo-haemophilia with a prolonged bleeding time as its most prominent sign.
Since this early observation, von Willebrand disease has been studied extensively. In 1957, Inga Marie Nilsson (see image below) and co-workers at the Malmö University Hospital concluded that the impaired haemostasis was due to a lack of a plasma factor — the von Willebrand factor (VWF) — present in both normal and in haemophilia A patients. This knowledge made it possible to take the first step towards effective replacement therapy.
Read more about the first discovery of treatment for persons with bleeding disorders.
Page updated: 2014-04-10