Publication details

European Clinical, Laboratory and Molecular (2020 ECLM) Diagnostic Work-Up and Classification of Von Willebrand Disease from the Perspectives of Clinicians and Scientists

Authors

SMEJKAL Petr MICHIELS J. J. ZAPLETAL Ondřej BLATNÝ Jan BATOROVA A. PRICANGOVA T. BUDDE U. HERMANS C. MAYGER K. MOORE G. VANGENEGTEN I. PENKA Miroslav

Year of publication 2019
Type Article in Periodical
Magazine / Source Thrombosis & Haemostasis: Research
MU Faculty or unit

Faculty of Medicine

Citation
Web https://austinpublishinggroup.com/thrombosis-haemostasis/all-issues.php
Keywords Von willebrand disease; Von willebrand factor VWF antigen; VWF collagen binding; VWF ristocetine cofactor; VWF multimers; and VWF propeptide; VWF ristocetine induced platelet aggregation; Autosomal recessive; Autosomal dominant; Heredity
Description The International Society of Thrombosis Haemostasis (ISTH) classification separated Von Willebrand Disease (VWD) into type 1 and type 2 by the use of four insensitive Von Willebrand Factor (VWF) assays Ristocetine Co-factor (VWF:RCo), VWF Antigen (VWF:Ag), Ristocetine Induced Platelet Agglutination (RIPA) and VWF multimers in a low resolution gel. A complete set of VWF parameters is mandatory to discriminate between all variants of VWD type 1, 2 and 3 and includes Bleeding Time (BT), PFA-100 closure times, FVIII:C, VWF:RCo activity, VWF Collagen Binding (VWF:CB), RIPA, VWF propeptide (VWF:pp), multimeric analysis of VWF and the response of FVIII:C and VWF parameters to DDAVP. We here translate the ISTH into European, Clinical, Laboratory and Molecular (2020 ECLM) classification of the Von Willebrand Disease (VWD) related to the domain location of the Molecular (M) efect in the VWF gene to detect all variants of VWD.

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