title: Making a diagnosis of VWD.
abstract: A clear understanding of the molecular basis of VWD can guide the choice and interpretation of appropriate diagnostic tests. This review briefly describes the lifecycle and molecular interactions of VWF and how they lead to the current clinical classification. It also includes a brief discussion of the differential diagnosis and general workup of mucocutaneous bleeding, a review of the various VWD subtypes, and pertinent laboratory assays for each, including genetic tests. Finally, common testing pitfalls and diagnostic dilemmas are covered, including the challenge created by the overlap of borderline low VWF levels and mild bleeding.
authors.affiliation: Department of Pediatrics, Section of Hematology/Oncology/Bone Marrow Transplantation, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
authors.forename: Brian R
authors.initials: BR
authors.lastname: Branchford
authors.forename: Jorge
authors.initials: J
authors.lastname: Di Paola
mesh_terms: D000465:Algorithms; D001681:Biological Assay; D003937:Diagnosis, Differential; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D005820:Genetic Testing; D006405:Hematology / Q000379:methods*; D006470:Hemorrhage; D006487:Hemostasis; D006720:Homozygote; D006801:Humans; D008297:Male; D008954:Models, Biological; D008957:Models, Genetic; D009154:Mutation; D014842:von Willebrand Diseases / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D014841:von Willebrand Factor / Q000096:biosynthesis
chemical_list: D014841:von Willebrand Factor