TY - JOUR
T1 - Recent advances in laboratory-aided diagnosis of von Willebrand disease
AU - Favaloro, Emmanuel J.
N1 - Publisher Copyright:
© 2015 Informa UK, Ltd.
PY - 2015/8/1
Y1 - 2015/8/1
N2 - 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.
AB - 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.
KW - Acquired von Willebrand syndrome
KW - Diagnosis
KW - Laboratory testing
KW - Von Willebrand disease
KW - Von Willebrand factor
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U2 - 10.1517/21678707.2015.1066245
DO - 10.1517/21678707.2015.1066245
M3 - Review article
AN - SCOPUS:84947017087
SN - 2167-8707
VL - 3
SP - 975
EP - 995
JO - Expert Opinion on Orphan Drugs
JF - Expert Opinion on Orphan Drugs
IS - 9
ER -