Combined Use of Rapid Von Willebrand Factor (VWF) Activity,
VWF-Propetide and Classical VWF Assays for Improved Diagnosis
of Von Willebrand Disease Type 1, 2N and 2E Due to Mutations in
the D1, D2, D’, D3 and D4 Domains of the VWF Gene

J 2019

Combined Use of Rapid Von Willebrand Factor (VWF) Activity, VWF-Propetide and Classical VWF Assays for Improved Diagnosis of Von Willebrand Disease Type 1, 2N and 2E Due to Mutations in the D1, D2, D’, D3 and D4 Domains of the VWF Gene

MICHIELS, J. J., Petr SMEJKAL, G. MOORE, U. BUDDE, Z. BERNEMAN et. al.

Základní údaje

Originální název

Combined Use of Rapid Von Willebrand Factor (VWF) Activity, VWF-Propetide and Classical VWF Assays for Improved Diagnosis of Von Willebrand Disease Type 1, 2N and 2E Due to Mutations in the D1, D2, D’, D3 and D4 Domains of the VWF Gene

Autoři

MICHIELS, J. J. (528 Nizozemské království, garant), Petr SMEJKAL (203 Česká republika, domácí), G. MOORE (826 Velká Británie a Severní Irsko), U. BUDDE (276 Německo), Z. BERNEMAN (56 Belgie), I. VANGENECHTEN (56 Belgie), A. GADISSEUR (56 Belgie), J. BLATNY (203 Česká republika) a Miroslav PENKA (203 Česká republika, domácí)

Vydání

Thrombosis & Haemostasis: Research, Austin Publishing Group, 2019, 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/00216224:14110/19:00112255

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

Von willebrand disease; Von willebrand factor; Antigen

Štítky

rivok

Změněno: 14. 4. 2020 13:55, Mgr. Tereza Miškechová

Anotace

V originále

Introduction: The Brno Antwerp and London VWD investigators used a complete set of Von Willebrand Factor (VWF) assays for the diagnosis and classification of Von Willebrand Disease (VWD) according to European Clinical Laboratory and Molecular (ECLM) criteria (Clinical Applied Thrombosis/ Hemostasis 2017; 23: 518). Aims: Thr Brno Antwerp London VWD investigators directly compared the rapid von Willebrand factor (VWF) assays VWF:GPIbM and VWF:GPIbR in Von Willebrand Disease (VWD) against the complete set of VWF assays using the ECLM criteria as the gold standard for VWD classification anno 2018. Between 2008 and 2018 we prospectively studied the Brno-Antwerp cohort with VWD type 1, 2N and 2 due to mutations in the D1, D2, D’and D3 domains of the vW gene. Methods: The complete set of rapid and classical VWF assays include Platelet Function Analyser Closure Time (PFA-CT) Von Willebrand Factor (VWF) Antigen (Ag), Ristocetine Cofactor activity (RCo), Collagen Binding (CB), Propeptide (pp), Ristocetine Induced Platelet Aggregation (RIPA), the rapid VWF activity assay VWF: GPIbM based on glycoprotein Ib (GPIb) binding to particles coated with G233V and M239V mutants in the absence of ristocetin, the rapid VWF: GPIbR assay in the presence of ristocetine, and the responses to DDAVP of FVIII: C and VWF parameters to pick up secretion and/or clearance defects of VWF. Results: The VWF: RCo/VWFAg, VWF: GPIbM/VWFAg and VWF: GPIbR/ VWF: Ag ratios are completely normal (above 0.7) in all variants of VWD type 1 and Low VWF. The VWF: RCo/VWF: Ag, GPIbR/VWF: Ag and GPIbM/VWF: Ag ratios vary around the cut off level of 0.70 in VWD due to multimerization defect in the D3 domain and therefore diagnosed as either type 1 E or type 2E VWD. Type 1 due to a heterozygous mutation in the D1 domain is featured by persistence of proVWF as the cause of VWF secretion/multimerization and FVIII binding defect mimicking VWD type 3 together with decreased values for VWFpp, VWFpp/Ag ratios. The majority of 22 different missense mutations in the D3 domain are of type 1 or 2 E multimerization defect usually associated with an additional secretion defect (increased FVIII: C/VWF: Ag ratio) and or clearance defect (increased VWFpp/Ag ratio). The majority of VWF mutations in the D4 and C1 to C6 are VWD type 1 SD with smeary (1sm) or normal (1m) multimers with no or a minor clearance defect. The heterozygous S2179F mutation in the D4 domain is featured by VWD type 1 Secretion and Clearance (SCD). The introduction of the rapid VWF:GPIbM or VWF:GPIbR assays as compared to the classical VWF: RCo assay did change VWD type 2 into type 1 in about 10 to 12%.

Citovat

MICHIELS, J. J., Petr SMEJKAL, G. MOORE, U. BUDDE, Z. BERNEMAN, I. VANGENECHTEN, A. GADISSEUR, J. BLATNY a Miroslav PENKA. Combined Use of Rapid Von Willebrand Factor (VWF) Activity, VWF-Propetide and Classical VWF Assays for Improved Diagnosis of Von Willebrand Disease Type 1, 2N and 2E Due to Mutations in the D1, D2, D’, D3 and D4 Domains of the VWF Gene. Thrombosis & Haemostasis: Research. Austin Publishing Group, 2019, roč. 3, č. 2, s. 1-8. ISSN 2689-9663.

@article{1601682,
   author = {Michiels, J. J. and Smejkal, Petr and Moore, G. and Budde, U. and Berneman, Z. and Vangenechten, I. and Gadisseur, A. and Blatny, J. and Penka, Miroslav},
   article_number = {2},
   keywords = {Von willebrand disease; Von willebrand factor; Antigen},
   language = {eng},
   issn = {2689-9663},
   journal = {Thrombosis & Haemostasis: Research},
   title = {Combined Use of Rapid Von Willebrand Factor (VWF) Activity, VWF-Propetide and Classical VWF Assays for Improved Diagnosis of Von Willebrand Disease Type 1, 2N and 2E Due to Mutations in the D1, D2, D’, D3 and D4 Domains of the VWF Gene},
   url = {https://austinpublishinggroup.com/thrombosis-haemostasis/fulltext/thrombosis-v3-id1027.pdf},
   volume = {3},
   year = {2019}
}

TY  - JOUR
ID  - 1601682
AU  - Michiels, J. J. - Smejkal, Petr - Moore, G. - Budde, U. - Berneman, Z. - Vangenechten, I. - Gadisseur, A. - Blatny, J. - Penka, Miroslav
PY  - 2019
TI  - Combined Use of Rapid Von Willebrand Factor (VWF) Activity, VWF-Propetide and Classical VWF Assays for Improved Diagnosis of Von Willebrand Disease Type 1, 2N and 2E Due to Mutations in the D1, D2, D’, D3 and D4 Domains of the VWF Gene
JF  - Thrombosis & Haemostasis: Research
VL  - 3
IS  - 2
SP  - 1-8
EP  - 1-8
PB  - Austin Publishing Group
SN  - 26899663
KW  - Von willebrand disease
KW  - Von willebrand factor
KW  - Antigen
UR  - https://austinpublishinggroup.com/thrombosis-haemostasis/fulltext/thrombosis-v3-id1027.pdf
L2  - https://austinpublishinggroup.com/thrombosis-haemostasis/fulltext/thrombosis-v3-id1027.pdf
N2  - Introduction: The Brno Antwerp and London VWD investigators used a complete set of Von Willebrand Factor (VWF) assays for the diagnosis and classification of Von Willebrand Disease (VWD) according to European Clinical Laboratory and Molecular (ECLM) criteria (Clinical Applied Thrombosis/ Hemostasis 2017; 23: 518). Aims: Thr Brno Antwerp London VWD investigators directly compared the rapid von Willebrand factor (VWF) assays VWF:GPIbM and VWF:GPIbR in Von Willebrand Disease (VWD) against the complete set of VWF assays using the ECLM criteria as the gold standard for VWD classification anno 2018. Between 2008 and 2018 we prospectively studied the Brno-Antwerp cohort with VWD type 1, 2N and 2 due to mutations in the D1, D2, D’and D3 domains of the vW gene. Methods: The complete set of rapid and classical VWF assays include Platelet Function Analyser Closure Time (PFA-CT) Von Willebrand Factor (VWF) Antigen (Ag), Ristocetine Cofactor activity (RCo), Collagen Binding (CB), Propeptide (pp), Ristocetine Induced Platelet Aggregation (RIPA), the rapid VWF activity assay VWF: GPIbM based on glycoprotein Ib (GPIb) binding to particles coated with G233V and M239V mutants in the absence of ristocetin, the rapid VWF: GPIbR assay in the presence of ristocetine, and the responses to DDAVP of FVIII: C and VWF parameters to pick up secretion and/or clearance defects of VWF. Results: The VWF: RCo/VWFAg, VWF: GPIbM/VWFAg and VWF: GPIbR/ VWF: Ag ratios are completely normal (above 0.7) in all variants of VWD type 1 and Low VWF. The VWF: RCo/VWF: Ag, GPIbR/VWF: Ag and GPIbM/VWF: Ag ratios vary around the cut off level of 0.70 in VWD due to multimerization defect in the D3 domain and therefore diagnosed as either type 1 E or type 2E VWD. Type 1 due to a heterozygous mutation in the D1 domain is featured by persistence of proVWF as the cause of VWF secretion/multimerization and FVIII binding defect mimicking VWD type 3 together with decreased values for VWFpp, VWFpp/Ag ratios. The majority of 22 different missense mutations in the D3 domain are of type 1 or 2 E multimerization defect usually associated with an additional secretion defect (increased FVIII: C/VWF: Ag ratio) and or clearance defect (increased VWFpp/Ag ratio). The majority of VWF mutations in the D4 and C1 to C6 are VWD type 1 SD with smeary (1sm) or normal (1m) multimers with no or a minor clearance defect. The heterozygous S2179F mutation in the D4 domain is featured by VWD type 1 Secretion and Clearance (SCD). The introduction of the rapid VWF:GPIbM or VWF:GPIbR assays as compared to the classical VWF: RCo assay did change VWD type 2 into type 1 in about 10 to 12%.
ER  -

MICHIELS, J. J., Petr SMEJKAL, G. MOORE, U. BUDDE, Z. BERNEMAN, I. VANGENECHTEN, A. GADISSEUR, J. BLATNY a Miroslav PENKA. Combined Use of Rapid Von Willebrand Factor (VWF) Activity, VWF-Propetide and Classical VWF Assays for Improved Diagnosis of Von Willebrand Disease Type 1, 2N and 2E Due to Mutations in the D1, D2, D’, D3 and D4 Domains of the VWF Gene. \textit{Thrombosis \&{} Haemostasis: Research}. Austin Publishing Group, 2019, roč.~3, č.~2, s.~1-8. ISSN~2689-9663.

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