Pediatric Clinics of North America - CIPERJ

Pediatr Clin N Am 55 (2008) 377–392
von Willebrand Disease
Jeremy Robertson, MD a , David Lillicrap, MD b ,
Paula D. James, MD c, *
a Division of Hematology/Oncology, Hospital for Sick Children, 555 University Avenue,
Toronto, ON M5G 1X8, Canada
b Department of Pathology and Molecular Medicine, Richardson Labs, Queen’s University,
108 Stuart Street, Kingston, ON K7L 3N6, Canada
c Department of Medicine, Queen’s University, Room 2025, Etherington Hall,
94 Stuart Street, Kingston, ON K7l 2V6, Canada
History
von Willebrand disease (VWD) first was described in 1926 by a Finnish
physician named Dr. Erik von Willebrand. In the original publication [1]
he described a severe mucocutaneous bleeding problem in a family living
on the A˚ land archipelago in the Baltic Sea. The index case in this family,
a young woman named Hjo¨rdis, bled to death during her fourth menstrual
period. At least four other family members died from severe bleeding and,
although the condition originally was referred to as ‘‘pseudohemophilia,’’
Dr. von Willebrand noted that in contrast to hemophilia, both genders
were affected. He also noted that affected individuals exhibited prolonged
bleeding times despite normal platelet counts.
In the mid-1950s, it was recognized that the condition usually was accompanied
by a reduced level of factor VIII (FVIII) activity and that the bleeding
phenotype could be corrected by the infusion of normal plasma. In the
early 1970s, the critical immunologic distinction between FVIII and von
Willebrand factor (VWF) was made and since that time significant progress
has been made in understanding the molecular pathophysiology of this
condition.
JR is the 2007/2008 recipient of the Baxter BioScience Pediatric Thrombosis and
Hemostasis Fellowship in the Division of Hematology/Oncology at the Hospital for Sick
Children. DL holds a Canada Research Chair in Molecular Hemostasis and is a Career
Investigator of the Heart and Stroke Foundation of Ontario.
* Corresponding author.
E-mail address: jamesp@queensu.ca (P.D. James).
0031-3955/08/$ - see front matter Ó 2008 Elsevier Inc. All rights reserved.
doi:10.1016/j.pcl.2008.01.008
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