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 platelet adhesion and involved in primary hemostasis. The genetic defect responsible for vWF production the vWF gene located on the short arm 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 who received his medical doctorate 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
- Up To Date. www.uptodate.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]
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