Making a diagnosis of VWD. Hematology Am Soc Hematol Educ Program 2012;2012:161-7
Date
12/13/2012Pubmed ID
23233576Pubmed Central ID
PMC5873588DOI
10.1182/asheducation-2012.1.161Scopus ID
2-s2.0-84879397042 (requires institutional sign-in at Scopus site) 25 CitationsAbstract
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.
Author List
Branchford BR, Di Paola JAuthor
Brian Branchford MD Associate Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AlgorithmsBiological Assay
Diagnosis, Differential
Exons
Female
Genes, Recessive
Genetic Testing
Hematology
Hemorrhage
Hemostasis
Homozygote
Humans
Male
Models, Biological
Models, Genetic
Mutation
von Willebrand Diseases
von Willebrand Factor
