Von Willebrand disease historical perspective

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Prince Tano Djan, BSc, MBChB [2] Nazia Fuad M.D.

Overview

Von Willebrand's disease was first described by Erik Adolf von Willebrand, a Finnish pediatrician in 1926. Dr. Erik Adolf von Willebrand was also the first to differentiate Von Willebrand's disease from hemophilia. Von Willebrand's disease was initially named hereditary pseudo hemophilia. In the mid 1950s it was recognized that Von Willebrand's disease was usually accompanied by decreased level of coagulation factor VIII (FVIII) activity. In the early 1970s the immunologic distinction between FVIII and von Willebrand factor was established. In the 1980s, cloning of the VWF gene was investigated which has facilitated investigation into the genetic basis of VWD.

Historical Perspective

  • In the mid 1950s it was recognized that Von Willebrand's disease was usually accompanied by the following:[3]
    • A decreased level of coagulation factor VIII (FVIII) activity
    • Bleeding phenotype could be corrected by the infusion of normal plasma.
  • In the early 1970s the immunologic distinction between FVIII and von Willebrand factor was made.[3]
  • In the 1980s, cloning of the VWF gene was investigated which has facilitated investigation into the genetic basis of VWD.[3][4][5][6][7]

References

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  2. 2.0 2.1 2.2 Lenting PJ, Casari C, Christophe OD, Denis CV (2012). "von Willebrand factor: the old, the new and the unknown". J Thromb Haemost. 10 (12): 2428–37. doi:10.1111/jth.12008. PMID 23020315.
  3. 3.0 3.1 3.2 James PD, Goodeve AC (2011). "von Willebrand disease". Genet Med. 13 (5): 365–76. doi:10.1097/GIM.0b013e3182035931. PMC 3832952. PMID 21289515.
  4. Lynch DC, Zimmerman TS, Collins CJ, Brown M, Morin MJ, Ling EH; et al. (1985). "Molecular cloning of cDNA for human von Willebrand factor: authentication by a new method". Cell. 41 (1): 49–56. PMID 3873280.
  5. Sadler JE, Shelton-Inloes BB, Sorace JM, Harlan JM, Titani K, Davie EW (1985). "Cloning and characterization of two cDNAs coding for human von Willebrand factor". Proc Natl Acad Sci U S A. 82 (19): 6394–8. PMC 390722. PMID 2864688.
  6. Ginsburg D, Handin RI, Bonthron DT, Donlon TA, Bruns GA, Latt SA; et al. (1985). "Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization". Science. 228 (4706): 1401–6. PMID 3874428.
  7. Verweij CL, Diergaarde PJ, Hart M, Pannekoek H (1986). "Full-length von Willebrand factor (vWF) cDNA encodes a highly repetitive protein considerably larger than the mature vWF subunit". EMBO J. 5 (8): 1839–47. PMC 1167049. PMID 3019665.

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