Von Willebrand Disease (VWD): Diagnostic Differentiation of
Pseudo, Mild, Moderate to Severe VWD Type 1 and 2 by a DDAVP
Challenge Test on Top of the ISTH Classification

J 2020

Von Willebrand Disease (VWD): Diagnostic Differentiation of Pseudo, Mild, Moderate to Severe VWD Type 1 and 2 by a DDAVP Challenge Test on Top of the ISTH Classification

MICHIELS, J. J., C. HERMANS, Petr SMEJKAL, Miroslav PENKA, A. BATOROVA et. al.

Základní údaje

Originální název

Von Willebrand Disease (VWD): Diagnostic Differentiation of Pseudo, Mild, Moderate to Severe VWD Type 1 and 2 by a DDAVP Challenge Test on Top of the ISTH Classification

Autoři

MICHIELS, J. J. (528 Nizozemské království, garant), C. HERMANS (56 Belgie), Petr SMEJKAL (203 Česká republika, domácí), Miroslav PENKA (203 Česká republika, domácí), A. BATOROVA (703 Slovensko), T. PRICANGOVA (703 Slovensko), U. BUDDE (276 Německo), A. GADISSEUR (56 Belgie) a H. VAN VLIET (528 Nizozemské království)

Vydání

Thrombosis & haemostasis: research, Austin Publishing, 2020, 2689-9663

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30205 Hematology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Kód RIV

RIV/00216224:14110/20:00117489

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

Von willebrand disease; Von willebrand factor; ADAMTS13; DDAVP; Von willebrand factor assays; Von willebrand factor multimers; Von willebrand factor mutations

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 12. 5. 2021 14:28, Mgr. Tereza Miškechová

Anotace

V originále

A complete set of FVIIIl:C and von Willebrand factor ristocetine cofactor, collagen binding and antigen (VWF:RCo. VWF:CB, VWF:Ag) and Ristocetine Induced Platelet Agglutination (RIPA) and VWF multimeric analysis in a low resolution gel is mandatory to diagnose all variants of Von Willebrand Disease (VWD) according to ISTH (International Society on Thrombosis and Haemotasis) criteria. The response to DDAVP of VWF parameters is normal in pseudo-VWD, and mild VWD type 1 Bloodgoup O, but restrictive in carriers of recessive type 1 and 3 VWD. The response to DDAVP is restricted in pronounced VWD type 1 and 1/2E, transiently good in mild type 2A group II, good for VWF:CB but poor for VWF:RCo in VWD 2M, poor for VWF:RCo and VWF:CB in 2A group I, 2B, 2C and 2D, very poor in recessive VWD severe type 1m and absent in VWD type 3. VWF multimers in a low resolution gel are normal in VWD type 1 and 2M, but RIPA is normal in dominant VWD type 1 and decreased in dominant VWD type 2M. Dominant VWD 1/2E due to mutations in the D3 domain of VWF result in defective multimerization, defective secretion and/or increased clearance of VWF. The triplet structure of each band and loss of large VWF multimers is charateristic for VWD type 2A and 2B due to increased proteolysis of each VWF band. Mild to moderate VWD 2A group II patients have normal FVIII:C and VWF:Ag, decreased VWF:RCo and VWF:CB, normal RIPA and transient correction of BT, FVIII:C, VWF parameters, and large multimers for a few hours post-DDAVP. Severe VWD 2A group I patients have low VWF:Ag and very low levels for VWF:RCo and VWF:CB, no RIPA and poor response of functional VWF:RCo and VWF:CB. VWD 2B is featured by loss of large VWF multimers due to increased proteolysis caused by increased interaction of platelets and mutated VWF.

Citovat

MICHIELS, J. J., C. HERMANS, Petr SMEJKAL, Miroslav PENKA, A. BATOROVA, T. PRICANGOVA, U. BUDDE, A. GADISSEUR a H. VAN VLIET. Von Willebrand Disease (VWD): Diagnostic Differentiation of Pseudo, Mild, Moderate to Severe VWD Type 1 and 2 by a DDAVP Challenge Test on Top of the ISTH Classification. Thrombosis & haemostasis: research. Austin Publishing, 2020, roč. 4, č. 1, s. 2-16. ISSN 2689-9663.

@article{1714377,
   author = {Michiels, J. J. and Hermans, C. and Smejkal, Petr and Penka, Miroslav and Batorova, A. and Pricangova, T. and Budde, U. and Gadisseur, A. and Van Vliet, H.},
   article_number = {1},
   keywords = {Von willebrand disease; Von willebrand factor; ADAMTS13; DDAVP; Von willebrand factor assays; Von willebrand factor multimers; Von willebrand factor mutations},
   language = {eng},
   issn = {2689-9663},
   journal = {Thrombosis & haemostasis: research},
   title = {Von Willebrand Disease (VWD): Diagnostic Differentiation of Pseudo, Mild, Moderate to Severe VWD Type 1 and 2 by a DDAVP Challenge Test on Top of the ISTH Classification},
   url = {https://austinpublishinggroup.com/thrombosis-haemostasis/fulltext/thrombosis-v4-id1040.php},
   volume = {4},
   year = {2020}
}

TY  - JOUR
ID  - 1714377
AU  - Michiels, J. J. - Hermans, C. - Smejkal, Petr - Penka, Miroslav - Batorova, A. - Pricangova, T. - Budde, U. - Gadisseur, A. - Van Vliet, H.
PY  - 2020
TI  - Von Willebrand Disease (VWD): Diagnostic Differentiation of Pseudo, Mild, Moderate to Severe VWD Type 1 and 2 by a DDAVP Challenge Test on Top of the ISTH Classification
JF  - Thrombosis & haemostasis: research
VL  - 4
IS  - 1
SP  - 2-16
EP  - 2-16
PB  - Austin Publishing
SN  - 26899663
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
UR  - https://austinpublishinggroup.com/thrombosis-haemostasis/fulltext/thrombosis-v4-id1040.php
L2  - https://austinpublishinggroup.com/thrombosis-haemostasis/fulltext/thrombosis-v4-id1040.php
N2  - A complete set of FVIIIl:C and von Willebrand factor ristocetine cofactor, collagen binding and antigen (VWF:RCo. VWF:CB, VWF:Ag) and Ristocetine Induced Platelet Agglutination (RIPA) and VWF multimeric analysis in a low resolution gel is mandatory to diagnose all variants of Von Willebrand Disease (VWD) according to ISTH (International Society on Thrombosis and Haemotasis) criteria. The response to DDAVP of VWF parameters is normal in pseudo-VWD, and mild VWD type 1 Bloodgoup O, but restrictive in carriers of recessive type 1 and 3 VWD. The response to DDAVP is restricted in pronounced VWD type 1 and 1/2E, transiently good in mild type 2A group II, good for VWF:CB but poor for VWF:RCo in VWD 2M, poor for VWF:RCo and VWF:CB in 2A group I, 2B, 2C and 2D, very poor in recessive VWD severe type 1m and absent in VWD type 3. VWF multimers in a low resolution gel are normal in VWD type 1 and 2M, but RIPA is normal in dominant VWD type 1 and decreased in dominant VWD type 2M. Dominant VWD 1/2E due to mutations in the D3 domain of VWF result in defective multimerization, defective secretion and/or increased clearance of VWF. The triplet structure of each band and loss of large VWF multimers is charateristic for VWD type 2A and 2B due to increased proteolysis of each VWF band. Mild to moderate VWD 2A group II patients have normal FVIII:C and VWF:Ag, decreased VWF:RCo and VWF:CB, normal RIPA and transient correction of BT, FVIII:C, VWF parameters, and large multimers for a few hours post-DDAVP. Severe VWD 2A group I patients have low VWF:Ag and very low levels for VWF:RCo and VWF:CB, no RIPA and poor response of functional VWF:RCo and VWF:CB. VWD 2B is featured by loss of large VWF multimers due to increased proteolysis caused by increased interaction of platelets and mutated VWF.
ER  -

MICHIELS, J. J., C. HERMANS, Petr SMEJKAL, Miroslav PENKA, A. BATOROVA, T. PRICANGOVA, U. BUDDE, A. GADISSEUR a H. VAN VLIET. Von Willebrand Disease (VWD): Diagnostic Differentiation of Pseudo, Mild, Moderate to Severe VWD Type 1 and 2 by a DDAVP Challenge Test on Top of the ISTH Classification. \textit{Thrombosis \&{} haemostasis: research}. Austin Publishing, 2020, roč.~4, č.~1, s.~2-16. ISSN~2689-9663.

Podrobný výpis o publikaci