title: Phenotypic and genotypic diagnosis of von Willebrand disease: a 2004 update.
abstract: In the last two decades, progress in the diagnosis of von Willebrand disease (VWD) came from the rapidly developing field of molecular techniques that allowed the first phenotype-genotype correlations. In particular, structural and functional defects of von Willebrand factor (VWF) that underlie VWD type 2 and their molecular basis not only helped to understand the pathophysiology of VWD but also the complex post-translation processing of VWF and the multiple VWF functions. In contrast to the dramatic development of molecular techniques, improvement of methods for phenotypic description, a prerequisite for phenotype-genotype comparisons, has been neglected. The gold standard to differentiate VWD type 2 from type 1 and between diverse type 2 subtypes is the electrophoretic analysis of VWF multimers, a demanding technique that itself is not easily standardized but of crucial relevance for correct classification. This article summarizes the current knowledge on phenotype-genotype correlations as well as up-to-date phenotypic and genotypic methods in the diagnosis of VWD.
authors.affiliation: University Hospital Hamburg-Eppendorf, Department of Pediatric Hematology and Oncology, Hamburg, Germany. schneppenheim@uke.uni-hamburg.de
authors.forename: Reinhard
authors.initials: R
authors.lastname: Schneppenheim
authors.forename: Ulrich
authors.initials: U
authors.lastname: Budde
mesh_terms: D005838:Genotype; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D010641:Phenotype; D014842:von Willebrand Diseases / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D014841:von Willebrand Factor / Q000032:analysis* / Q000235:genetics / Q000378:metabolism
chemical_list: D014841:von Willebrand Factor