Historical perspective on von Willebrand disease
(2024) p.1-6- Abstract
In 1926, the Finnish physician Erik Adolf von Willebrand first described an inherited bleeding disorder with features that suggested that this disease was distinct from classic hemophilia and other bleeding disorders. The original observations were made by members of a large family (family S) living on the island of Föglö in the Åland archipelago in the Baltic Sea. The index case was a young girl, Hjördis, who bled to death at the age of 14 during her fourth menstrual period. Reports from other countries confirmed similar findings, and the name von Willebrand syndrome was proposed in 1953. The first demonstration of the von Willebrand factor was during the 1950s by Margareta and Birger Blombäck, Stockholm working with the purification... (More)
In 1926, the Finnish physician Erik Adolf von Willebrand first described an inherited bleeding disorder with features that suggested that this disease was distinct from classic hemophilia and other bleeding disorders. The original observations were made by members of a large family (family S) living on the island of Föglö in the Åland archipelago in the Baltic Sea. The index case was a young girl, Hjördis, who bled to death at the age of 14 during her fourth menstrual period. Reports from other countries confirmed similar findings, and the name von Willebrand syndrome was proposed in 1953. The first demonstration of the von Willebrand factor was during the 1950s by Margareta and Birger Blombäck, Stockholm working with the purification of fibrinogen and Inga Marie Nilsson, Malmö. During the early 1990s, it was revealed that the Åland patients had type 3 VWD and were homozygous or double heterozygous for mutations in exon 18.
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- author
- Berntorp, Erik E. LU and Blombäck, Margareta
- organization
- publishing date
- 2024-01
- type
- Chapter in Book/Report/Conference proceeding
- publication status
- published
- subject
- keywords
- bleeding pedigree, cohn fraction I, disorder, hereditary pseudohemophilia, von Willebrand disease, von Willebrand factor, Ã…land islands
- host publication
- Textbook of von Willebrand Disease : Basic and Clinical Aspects - Basic and Clinical Aspects
- pages
- 6 pages
- publisher
- Wiley
- external identifiers
-
- scopus:85192334894
- ISBN
- 9781119419488
- 9781119419525
- DOI
- 10.1002/9781119419525.ch1
- language
- English
- LU publication?
- yes
- id
- 81c7fbbb-8af0-4b23-8cc3-4259b8ac812a
- date added to LUP
- 2025-01-15 12:11:47
- date last changed
- 2025-04-23 19:57:16
@inbook{81c7fbbb-8af0-4b23-8cc3-4259b8ac812a,
abstract = {{<p>In 1926, the Finnish physician Erik Adolf von Willebrand first described an inherited bleeding disorder with features that suggested that this disease was distinct from classic hemophilia and other bleeding disorders. The original observations were made by members of a large family (family S) living on the island of Föglö in the Åland archipelago in the Baltic Sea. The index case was a young girl, Hjördis, who bled to death at the age of 14 during her fourth menstrual period. Reports from other countries confirmed similar findings, and the name von Willebrand syndrome was proposed in 1953. The first demonstration of the von Willebrand factor was during the 1950s by Margareta and Birger Blombäck, Stockholm working with the purification of fibrinogen and Inga Marie Nilsson, Malmö. During the early 1990s, it was revealed that the Åland patients had type 3 VWD and were homozygous or double heterozygous for mutations in exon 18.</p>}},
author = {{Berntorp, Erik E. and Blombäck, Margareta}},
booktitle = {{Textbook of von Willebrand Disease : Basic and Clinical Aspects}},
isbn = {{9781119419488}},
keywords = {{bleeding pedigree; cohn fraction I; disorder; hereditary pseudohemophilia; von Willebrand disease; von Willebrand factor; Ã…land islands}},
language = {{eng}},
pages = {{1--6}},
publisher = {{Wiley}},
title = {{Historical perspective on von Willebrand disease}},
url = {{http://dx.doi.org/10.1002/9781119419525.ch1}},
doi = {{10.1002/9781119419525.ch1}},
year = {{2024}},
}