The landmark contribution by Erik von Willebrand

Area of Science:

• Hematology
• Genetics
• Medical History

Background:

• Von Willebrand disease is the most common hereditary bleeding disorder.
• First described by Professor Erik von Willebrand in 1926, it was initially termed hereditary pseudohemophilia.
• The index case, Hjördis, presented with severe bleeding and died during menstruation, highlighting the disorder's severity.

Purpose of the Study:

• To commemorate the 100th anniversary of Professor Erik von Willebrand's landmark paper.
• To review the historical context and scientific advancements in understanding von Willebrand disease.
• To emphasize the significance of von Willebrand's early clinical observations and research.

Main Methods:

• Historical review of Professor Erik von Willebrand's 1926 publication.
• Examination of the index case's family history and clinical presentation.
• Summary of subsequent research elucidating the pathophysiology, genetics, and treatment of von Willebrand disease.

Main Results:

• Von Willebrand's work identified a distinct hereditary bleeding disorder.
• Subsequent research revealed the structure, function, and genetics of the von Willebrand factor.
• The pathophysiology, symptoms, epidemiology, and treatment of von Willebrand disease are now well-understood.

Conclusions:

• Professor Erik von Willebrand's pioneering work laid the foundation for understanding von Willebrand disease.
• Decades of research have significantly advanced the diagnosis and management of this bleeding disorder.
• Improved understanding of the von Willebrand factor has enhanced the lives of affected individuals.