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@article{1364932,
author = {Michiels, Jan Jacques and Smejkal, Petr and Penka, Miroslav and Batorova, Angelika and Pricangova, Tatiana and Budde, Ulrich and Vangenechten, Inge and Gadisseur, Alain},
article_location = {Thousand Oaks},
article_number = {6},
doi = {http://dx.doi.org/10.1177/1076029616647157},
keywords = {von Willebrand disease; von Willebrand factor; ADAMTS13; DDAVP; von Willebrand factor assays; von Willebrand factor multimers; von Willebrand factor mutations},
language = {eng},
issn = {1076-0296},
journal = {Clinical and Applied Thrombosis-Hemostasis},
title = {Diagnostic Differentiation of von Willebrand Disease Types 1 and 2 by von Willebrand Factor Multimer Analysis and DDAVP Challenge Test},
volume = {23},
year = {2017}
}
TY - JOUR
ID - 1364932
AU - Michiels, Jan Jacques - Smejkal, Petr - Penka, Miroslav - Batorova, Angelika - Pricangova, Tatiana - Budde, Ulrich - Vangenechten, Inge - Gadisseur, Alain
PY - 2017
TI - Diagnostic Differentiation of von Willebrand Disease Types 1 and 2 by von Willebrand Factor Multimer Analysis and DDAVP Challenge Test
JF - Clinical and Applied Thrombosis-Hemostasis
VL - 23
IS - 6
SP - 518-531
EP - 518-531
PB - Sage Publications Inc.
SN - 10760296
KW - von Willebrand disease
KW - von Willebrand factor
KW - ADAMTS13
KW - DDAVP
KW - von Willebrand factor assays
KW - von Willebrand factor multimers
KW - von Willebrand factor mutations
N2 - The European Clinical Laboratory and Molecular (ECLM) classification of von Willebrand disease (vWD) is based on the splitting approach which uses sensitive and specific von Willebrand factor (vWF) assays with regard to the updated molecular data on structure and function of vWF gene and protein defects. A complete set of FVIII:C and vWF ristocetine cofactor, collagen binding, and antigen, vWF multimeric analysis in low- and medium-resolution gels, and responses to desmopressin (DDAVP) of FVIII:C and vWF parameters are mandatory. The ECLM classification distinguishes recessive types 1 and 3 vWD from recessive vWD 2C due to mutations in the D1 and D2 domains and vWD 2N due to mutations in the D-FVIII-binding domain of vWF. The ECLM classification differentiates between mild vWD type 1 with variable penetrance of bleedings from symptomatic dominant type 1 vWD secretion defect and/or clearance defect with normal vWF multimers versus vWD 1M and 2M with normal or smeary vWF multimers in low- and medium-resolution gels. High-quality multimeric analysis of vWF in medium-resolution gels based on a DDAVP challenge test clearly delineates and distinguishes each of the dominant type 2 vWDs 1/2E, 2M, 2B, 2A, and 2D caused by vWF gene mutations in the D3 multimerization domain, loss or gain-of-function mutations in the glycoprotein Ib receptor A1 domain, gene mutations in the A2 proteolytic domain, and the C-terminal dimerization domain, respectively.
ER -
MICHIELS, Jan Jacques, Petr SMEJKAL, Miroslav PENKA, Angelika BATOROVA, Tatiana PRICANGOVA, Ulrich BUDDE, Inge VANGENECHTEN and Alain GADISSEUR. Diagnostic Differentiation of von Willebrand Disease Types 1 and 2 by von Willebrand Factor Multimer Analysis and DDAVP Challenge Test. \textit{Clinical and Applied Thrombosis-Hemostasis}. Thousand Oaks: Sage Publications Inc., 2017, vol.~23, No~6, p.~518-531. ISSN~1076-0296. Available from: https://dx.doi.org/10.1177/1076029616647157.
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