Informace o publikaci

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

Autoři	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
Rok publikování	2019
Druh	Článek v odborném periodiku
Časopis / Zdroj	Thrombosis & Haemostasis: Research
Fakulta / Pracoviště MU	Lékařská fakulta
Citace
www	https://austinpublishinggroup.com/thrombosis-haemostasis/all-issues.php
Klíčová slova	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
Popis	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.