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Willebrand's disease I

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A familial congenital bleeding disorder characterized by prolonged bleeding time and lack of antihaemophil factor VIII. Bleeding is primarily from mucous membranes. Most patients have abnormal platelet aggregation and decreased amounts of factor VIII-von Willebrand protein. The bleeding tendency manifests at an early age, usually as epistaxis and easy bruising but petechiae are rare. Bleeding in the intestinal tract during surgery and excess loss of blood during menstruation is common. The symptoms decrease in severity with age and during pregnancy. It is a very rare disorder with a frequency of 5-10 per million.

Both sexes affected, but more frequent in women. Most cases, 70–90%, are autosomal dominant with variable penetrance and expressivity, the rest are autosomal recessive. Sporadic occurrence has also been reported. This was the first inheritable bleeding disease, which is distinguished from haemophilia.

First described by von Willebrand in 1926 in members of three branches of a large family living in the Åland Islands on the Sea of Bothnia, a bay of the Baltic Sea between Finland and Sweden. Follow-up investigation in 1933 by Rudolf Jürgens of a diathesis frequently occurring on the Åland islands. Usually autosomal dominant inheritance.

We thank Charles Sommers for information submitted.


  • E. A. von Willebrand:
    Till kännedom om den aplastiska anämien.
    Finska Läkaresällskapets Handlingar, 1918, 60: 859-922.
  • E. A. von Willebrand:
    Hereditär pseudohemofili.
    Finska Läkaresällskapets Handlingar, 1926, 67: 87-112.
  • G. Minot:
    A familial hemorrhagic condition associated with prolongation of the bleeding time.
    The American Journal of the Medical Sciences, Philadelphia, 1928, 175: 301-306.
  • E. A. von Willebrand:
    Über hereditäre pseudohemophilie.
    Acta Medica Scandinavica, Stockholm, 1931; 76: 521-550.
  • E. A. von Willebrand:
    De hereditära trombopatierna.
    Finska Läkaresällskapets Handlingar, 1939, 82: 1743-1751.

  • E. A. von Willebrand, R. Jürgens:
    Über ein neues vererbbares Blutungsübel: Die konstitutionelle Thrombopathie.
    Deutsches Archiv für Klinische Medizin, Leipzig, 1933, 175: 453-483.
  • E. A. von Willebrand:
    Über eine neue Bluterkrankheit: die konstitutionelle Thrombopathie.
    Klinische Wochenschrift, Berlin, 1933, 12: 414-417.
  • E. A. von Willebrand, J. Olin:
    Nyare erfarenheter om de hemorrhagiska diatheserna.
    Finska Läkaresällskapets Handlingar, 1939, 82: 1743-1751.
  • R. Jürgens:
    Systematik der hämorrhagischen Diathesen.
    Schweizerische medizinische Wochenschrift, Basel, 1941, 71: 1473-1476.
  • H. J. Weiss:
    Von Willebrand disease. In: W. J. Williams, E. Beutler, A. J. Erslev, M. A. Lichtman, editors: Hematology. 3rd edition, New York, McGraw-Hill, 1983, pp 1413-1420.

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