Utility of the von Willebrand factor collagen binding assay in the diagnosis of von Willebrand disease.
von Willebrand Disease (VWD) is the most common inherited bleeding disorder and also arises as an acquired defect (AVWS). VWD and AVWS are due to quantitative deficiencies and/or qualitative defects in von Willebrand factor (VWF), an adhesive plasma protein with multiple activities. Diagnosis of VWD is problematic, being subject to overdiagnosis, underdiagnosis, and misdiagnosis. This is largely due to limitations in current test procedures and an over-reliance on these imperfect test systems for clinical diagnosis. VWF essentially acts to assist in the formation of a platelet thrombus to stop blood loss from sites of injury, achieving this by binding to platelets (primarily through the glycoprotein Ib receptor), binding to subendothelial matrix components (primarily collagen), and binding to factor VIII (FVIII), thus protecting FVIII from degradation and enabling its delivery to sites of vascular injury. VWD is classified into six separate types, which may each be differentially managed therapeutically, and this underscores the importance of a correct diagnosis. The current report concisely reviews the utility of a relatively underutilised assay, the VWF collagen binding assay (VWF:CB), in facilitating the correct diagnosis and typing of VWD. In particular, if laboratories do not utilise the VWF:CB, then (i) type 2M VWD will continue to be missed, and/or misdiagnosed as types 2A or 1 VWD, and (ii) types 2A, 2B and PT-VWD will continue to be missed, or else be misdiagnosed as type 1 VWD or ITP. Am. J. Hematol. 92:114-118, 2017. © 2016 Wiley Periodicals, Inc.
Department of Haematology, Sydney Centres for Thrombosis and Haemostasis, Institute of Clinical Pathology and Medical Research (ICPMR), Westmead Hospital, Westmead, NSW, Australia.|Pathology West, NSW Health Pathology, NSW, Australia.
Emmanuel J
EJ
Favaloro
D019411:Clinical Laboratory Techniques / Q000379:methods*; D003094:Collagen / Q000378:metabolism*; D006801:Humans; D011485:Protein Binding; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D014842:von Willebrand Diseases / Q000175:diagnosis*; D014841:von Willebrand Factor / Q000378:metabolism*
D014841:von Willebrand Factor; D003094:Collagen