von Willebrand Disease
Other Known Aliases – hereditary pseudohemophilia
Definition – Autosomal dominant, hereditary clotting disorder arising from a deficiency in the quantity and/or quality of von Willebrand factor (vWF), which is a protein required for protein adhesion and involved in primary hemostasis. The genetic defect responsible for vWF production the vWF gene located on the short arm p of chromosome 12 (12p13.2).
Clinical Significance – This is the most common type of hereditary blood-clotting disorder in humans, with 3 main hereditary types and multiple subtypes. Type 1 is the most common and often asymptomatic, Type 2 can have mild to moderate symptoms, Type 3 is the most severe and can manifest with hemarthosis and internal bleeding.
History – Named after Erik Adolf von Willebrand (1870-1949), a Finnish physician graduating from the University of Helsinki 1896, and who took a special interest in hematology and coagulation. In 1924, a 5yo girl was brought to him due to a bleeding disorder and he successfully performed a family history map on the girl’s 66 living family members and discovered the autosomal dominant pattern. He published his findings in 1926 in Swedish calling it “pseudo-hemophilia”, but it wasn’t until 1931 (when it was translated into German) did it gain any traction in the medical community.
References
- Firkin BG and Whitwirth JA. Dictionary of Medical Eponyms. 2nd ed. New York, NY; Parthenon Publishing Group. 1996.
- Bartolucci S, Forbis P. Stedman’s Medical Eponyms. 2nd ed. Baltimore, MD; LWW. 2005.
-
Yee AJ, Pfiffner P. (2012). Medical Eponyms (Version 1.4.2) [Mobile Application Software]. Retrieved http://itunes.apple.com.
- Whonamedit – dictionary of medical eponyms. http://www.whonamedit.com
-
Von Willebrand EA. Hereditary pseudohaemophilia. Haemophilia. 1999; 5(3):223-31. [translation of original paper] [pubmed]
-
Leebeek FW, Eikenboom JC. Von Willebrand’s Disease. NEJM. 2016; 375(21):2067-2080. [pubmed]
-
Nilsson IM. Commentary to Erik von Willebrand’s original paper from 1926 ‘Hereditär pseudohemofili’. Haemophilia. 1999; 5(3):220-1. [pubmed]