title: Rethinking the diagnosis of von Willebrand disease.
abstract: von Willebrand disease (VWD) is the most common inherited bleeding disorder and arises from deficiencies and/or defects in the plasma protein von Willebrand factor (VWF). VWD is classified into 6 different types, with type 1 identified as a (partial) quantitative deficiency of VWF, type 3 defined by a (virtual) total deficiency of VWF, and type 2 identifying four separate types (2A, 2B, 2M, 2N) characterised by qualitative defects. The classification is based on phenotypic assays including FVIII, VWF:Ag and VWF activity, typically by ristocetin cofactor (VWF:RCo), but also increasingly by collagen binding (VWF:CB). Phenotypic testing may be supplemented by multimer analysis, RIPA, and VWF:FVIII binding. Although genetic analysis is not required to diagnose VWD or to define a classification type, it may be useful in discrete situations. The current review briefly covers this diagnostic process, with a focus on newer approaches, including extended test panels and the use of data from desmopressin challenges as a diagnostic tool.
authors.affiliation: Department of Haematology, Institute of Clinical Pathology and Medical Research (ICPMR), Westmead Hospital, NSW, Australia. emmanuel.favaloro@swahs.health.nsw.gov.au
authors.forename: Emmanuel J
authors.initials: EJ
authors.lastname: Favaloro
mesh_terms: D001780:Blood Coagulation Tests / Q000379:methods; D003894:Deamino Arginine Vasopressin; D003951:Diagnostic Errors; D006801:Humans; D010641:Phenotype; D014842:von Willebrand Diseases / Q000097:blood / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D014841:von Willebrand Factor / Q000032:analysis / Q000235:genetics
chemical_list: D014841:von Willebrand Factor; D003894:Deamino Arginine Vasopressin