Recent advances in laboratory-aided diagnosis of von Willebrand disease

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12 Citations (Scopus)

Abstract

Introduction: von Willebrand disease (VWD) is due to deficiencies and/or defects in von Willebrand factor (VWF), a complex plasma protein with multiple functions, but essentially acting to assist in the formation of a platelet thrombus to stop blood loss from sites of injury. VWD is reportedly the most common inherited bleeding disorder. Acquired von Willebrand syndrome (AVWS) arises from a variety of causes, and essentially also comprises a deficiency or defect in VWF. Diagnosis of both VWD and AVWS (VWD/AVWS) is made difficult due to many factors, including limitations in current test procedures and an over-reliance on these imperfect test systems for clinical diagnosis. VWD in particular suffers from both over-diagnosis and under-diagnosis, whereas AVWS is probably under-diagnosed. Areas covered: The current report briefly overviews the diagnosis of VWD/AVWS, including the currently available armamentarium of laboratory tests, as well as emerging options for laboratory-assisted diagnostics. Expert opinion: Although current methodologies suffer from significant limitations that challenge the accurate diagnosis of VWD/AVWS, there are strategies to maximize diagnostic efficacy with existing tests. Furthermore, several promising methodologies and additional approaches can additionally improve detection of these common bleeding disorders.

Original languageEnglish
Pages (from-to)975-995
Number of pages21
JournalExpert Opinion on Orphan Drugs
Volume3
Issue number9
DOIs
Publication statusPublished - 01 Aug 2015

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