Feb

1

2024

Eponyms in Hematology – von Willebrand Disease

By William Aird

  • Erik Adolf von Willebrand:
    • Born in Vasa, Finland in 1870.
    • Received his MD from University of Helsinki in 1896.
    • Received his PhD from University of Helsinki in 1899.
    • Head of the Department of Internal Medicine at Deaconess Institute in Helsinki between 1922 and 1931.
    • Ultimately appointed Professor.
    • Died in September 1949, at the age of 79 years.
  • First description of von Willebrand disease:
    • First reported in 1926:
      • Published in Swedish
      • Journal name: Finska Läkaresällskapets Handlingar 
      • Entitled “Hereditär pseudohemofili”
    • The paper focused on a family from Föglö, on the islands of Åland in the Gulf of Bothnia between Sweden and Finland:
      • Index case:
        • Girl aged 5 (Hjördis S.)
        • Presented with marked recurrent mucocutaneous bleeding
        • Brought to Helsinki for consultation with Dr. von Willebrand
      • Analysis of 66 members of the family revealed 23 bleeders, including both males and females
      • Also described similar cases of hemorrhagic disorder distinct from hemophilia in the prior literature
      • von Willebrand recognized this was an autosomal dominant condition, thus different from classical hemophilia (hence the term pseudo-hemophilia)
    • In 1933 von Willebrand collaborated with a German physician, Rudolf Jürgens, which led to the disease initially being called von Willebrand–Jürgens thrombopathy!

References:

1. Erik von Willebrand. Thromb Res. 2007:120 Suppl 1:S3-4.

2. Hereditary pseudohaemophilia. Haemophilia. 1999 May;5(3):223-31.

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