The evolving classification of von Willebrand disease.
The classification of von Willebrand disease (VWD) has been refined since its first description in the 1920s, as knowledge regarding clinical symptoms and tests of von Willebrand factor (VWF) activity and multimer composition have increased. Current molecular approaches have allowed better understanding of the biosynthesis and function of VWF, and made possible phenotype-genotype studies of VWD subtypes. Improved classification of this heterogeneous disorder based on reproducible correlations between specific genetic mutations and recognized phenotypes should aid in determining appropriate management of patients with VWD.
Schneppenheim
Reinhard
R
Department of Pediatric Hematology and Oncology, Center of Gynecology, Obstetrics and Pediatrics, University Hospital Hamburg-Eppendorf, Hamburg, Germany. schneppenheim@uke.uni-hamburg.de
D002965:Classification; D019281:Dimerization; D040461:Gene Components; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans; D014842:von Willebrand Diseases / Q000145:classification* / Q000235:genetics / Q000266:history