Recent advances in laboratory-aided diagnosis of von Willebrand disease

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.

Keywords:

• acquired von Willebrand syndrome
• diagnosis
• laboratory testing
• von Willebrand disease
• von Willebrand factor

Declaration of interests

The author has no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Notes

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