Laboratory Diagnosis of von Willebrand Disease (VWD): Geographical Perspectives

Emmanuel J. Favaloro; Leonardo Pasalic

doi:10.1055/s-0042-1754331

Seminars in Thrombosis and Hemostasis, Inhaltsverzeichnis

Semin Thromb Hemost 2022; 48(06): 750-766
DOI: 10.1055/s-0042-1754331

Review Article

Laboratory Diagnosis of von Willebrand Disease (VWD): Geographical Perspectives

Emmanuel J. Favaloro

¹Department of Haematology, Institute of Clinical Pathology and Medical Research (ICPMR), NSW Health Pathology, Westmead Hospital, Westmead, North South Wales, Australia

²Sydney Centres for Thrombosis and Haemostasis, Westmead, North South Wales, Australia

³Faculty of Science and Health, Charles Sturt University, Wagga Wagga, North South Wales, Australia

,

Leonardo Pasalic

¹Department of Haematology, Institute of Clinical Pathology and Medical Research (ICPMR), NSW Health Pathology, Westmead Hospital, Westmead, North South Wales, Australia

²Sydney Centres for Thrombosis and Haemostasis, Westmead, North South Wales, Australia

⁴Westmead Clinical School, University of Sydney, Westmead, North South Wales, Australia

› Institutsangaben

Abstract

von Willebrand disease (VWD) is reportedly the most common inherited bleeding disorder, and can also arise as an acquired (von Willebrand) syndrome (AVWS). The hemostasis laboratory plays a key role in the diagnosis or exclusion of VWD/AVWS, which may otherwise be suspected due to the patient's clinical (bleeding) history. VWD/AVWS arise from deficiency and/or defects in the adhesive plasma protein, von Willebrand factor (VWF). VWF undertakes various roles within hemostasis, but principally acts within primary hemostasis to anchor platelets to sites of vascular damage, thereby facilitating thrombus formation to arrest bleeding. The diagnosis or exclusion of VWD/AVWS requires laboratory testing for both VWF level and activity, with the latter potentially comprising several of a potential plethora of different assays. Complete diagnosis of VWD also requires the differentiation of VWD type, with six types comprising the current classification (i.e., qualitative [types 2A, 2B, 2M, 2N VWD] vs. quantitative [types 1 and 3 VWD] deficiency/defects). Although appropriate diagnosis and type classification hold important therapeutic consequences, these remain problematic and sometimes elusive for some laboratories to achieve. This report reviews the laboratory aided diagnosis or exclusion of VWD from a geographic perspective, and focuses on the disparities of approaches and methods in different regions of the world. This is primarily done from the perspective of data available from published reports related to external quality assessment (or proficiency testing) from different geographic localities. Moreover, differences in approaches between laboratories may arise due to differential adherence of particular guidelines, as well as regulatory aspects and predominance of local manufacturers and suppliers.

Keywords

von Willebrand disease - diagnosis - exclusion - von Willebrand factor - laboratory testing - interpretation - external quality assessment - proficiency testing

Volltext

Referenzen

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