Hektoen International

A Journal of Medical Humanities

Willebrand disease discovered in a girl from the Aland archipelago

In 1924 the Finnish physician Erik von Willebrand was consulted about the case of a five-year- old girl from the self-governing autonomous Swedish-speaking region of the Aland archipelago in the Baltic Sea. Born on February 1, 1870, in Vasa, Finland, von Willebrand had graduated in 1896 from the faculty of medicine of the University of Helsinki. Appointed assistant physician at the Deaconess Hospital in Helsinki, he lectured on anatomy and physiology, worked on hematologic problems, and later specifically on pernicious, aplastic, and hypochromic anemias. He also became interested in thermotherapy (the heat effect of saunas), physical therapy, metabolism, obesity and gout, heart valves, diabetes, and the use of insulin.

Von Willebrand found that the girl from Aland and several members of her family had a severe bleeding disorder with prolonged bleeding times despite normal platelet counts. The disease affected both males and females, unlike hemophilia, which primarily affected males. The bleeding symptoms were usually milder than those in hemophilia and did not fit into the known categories of hemophilia or other bleeding disorders.

In 1926, von Willebrand published his findings on this unique condition. He initially called it “hereditary pseudohemophilia” but later it became simply known as von Willebrand disease (VWD). He described the disease as a distinct clinical entity, highlighting its autosomal inheritance pattern, which differed from the X-linked inheritance of hemophilia. Further research revealed that it was caused by a deficiency or dysfunction of a protein later called the von Willebrand factor (VWF). This protein plays a crucial role in blood clotting by helping platelets to adhere to damaged blood vessels and by stabilizing another clotting protein called Factor VIII. Depending on the type and severity of VWD, patients may experience symptoms such as easy bruising, frequent nosebleeds, heavy menstrual periods, and prolonged bleeding after minor injuries or surgical procedures.

Von Willebrand continued research on this disease over several decades. He observed that it varied in its severity and presentation, affecting both men and women equally. His work led to the development of diagnostic tests and treatments. Today, the condition is recognized as the most common inherited bleeding disorder, affecting up to 1% of the global population. Treatment options for VWD include desmopressin (DDAVP), which stimulates the release of VWF from storage sites in the body, and replacement therapy with concentrates containing VWF and Factor VIII.

Von Willebrand also made significant contributions to the study of blood groups and served as the chairman of the Finnish Red Cross. He was a member of several prestigious medical societies and received numerous accolades for his contributions to medicine. He died in 1949.

GEORGE DUNEA, MD, Editor-in-Chief

Spring 2024



Leave a Reply

Your email address will not be published. Required fields are marked *

This site uses Akismet to reduce spam. Learn how your comment data is processed.