The landmark contribution by Erik von Willebrand

One hundred years ago Professor Erik von Willebrand, working at the Deaconess Hospital in Helsinki, Finland, published his landmark paper on hereditary pseudohemophilia (the original paper, in Swedish, was entitled Hereditär pseudohemofili and was published in Finska Läkaresällskapets Handlingar). In 1924, a 5-year-old girl named Hjördis, living in Föglö in the Åland Island archipelago, was brought to Erik von Willebrand's attention; his investigations of a large family living in the Åland Islands emerged in the 1926 publication in which a new hereditary bleeding disorder, distinct from classic hemophilia, was described. The index case was the ninth of 11 siblings of whom three had already bled to death. Hjördis herself had a history of serious bleeding, including nose bleeds, hematomas, anemia and, also, an ankle bleed. At the age of 14 years, she drastically bled to death during her fourth menstruation. Erik von Willebrand came close with his interpretation of the disorder, but it took several decades until other investigators could fully elucidate the pathophysiology underlying the bleeding diathesis which nowadays is known as von Willebrand disease. The index case had the most severe subtype 3. The structure, function and genetics of the factor named von Willebrand factor have now been revealed and the symptoms, epidemiology and treatment of the disorder thoroughly studied. The pioneering and visionary work of Erik von Willebrand, combining laboratory methods and clinical sharpness, set the stage for improving the lives of numerous people suffering from a generalized bleeding tendency or even life-threatening bleeds due to this most common hereditary bleeding disorder.