title: [Von Willebrand and his factor].
abstract: Erik Adolf von Willebrand (1870-1949) studied medicine in Helsinki, where he subsequently joined the staff at the Deaconess Hospital. Haematological disorders were his main interest. In 1924 he was consulted about 5-year-old Hjördis S. She suffered from a severe bleeding disorder, as did six of her ten siblings; three of her sisters had died. In a Finnish article in a Journal in 1926 (in the Swedish language) he plotted the family pedigree (bleeding disorder in three preceding generations, on the part of both parents). Von Willebrand also distinguished the disorder from haemophilia and thrombopathies with purpura. His conjecture that the disorder was a special form of thrombocyte dysfunction would eventually be borne out, though the key factor is severe deficiency of a specific plasma protein. In milder, autosomal dominant forms of the disease, the protein is partly deficient or abnormal.
authors.affiliation: Nederlands Tijdschrift voor Geneeskunde, Amsterdam, the Netherlands. jan@vangijn.com
authors.forename: Jan
authors.initials: J
authors.lastname: van Gijn
authors.forename: Joost P
authors.initials: JP
authors.lastname: Gijselhart
mesh_terms: D005387:Finland; D005808:Genes, Recessive; D049672:History, 19th Century; D049673:History, 20th Century; D006801:Humans; D010375:Pedigree; D011487:Protein Conformation; D014842:von Willebrand Diseases / Q000175:diagnosis / Q000235:genetics / Q000266:history*; D014841:von Willebrand Factor / Q000266:history*
chemical_list: D014841:von Willebrand Factor