MICHIELS, Jan Jacques, Petr SMEJKAL, Katarzina MAYGER, Gary MOORE, Jan BLATNY, Miroslav PENKA, Ulrich BUDDE, Zwi BERNEMAN, Inge VANGENECHTEN and Alain GADISSEUR. Superiority of the Rapid Von Willebrand Factor (VWF) VWF:GPIbR and VWF:GPIbM Assays in Type 2A, 2B and 2M Von Willebrand Disease. International Journal of Clinical and Experimental Medical Sciences. Science Publishing Group, 2019, vol. 5, No 5, p. 80-91. ISSN 1940-5901.
Other formats:   BibTeX LaTeX RIS
Basic information
Original name Superiority of the Rapid Von Willebrand Factor (VWF) VWF:GPIbR and VWF:GPIbM Assays in Type 2A, 2B and 2M Von Willebrand Disease
Authors MICHIELS, Jan Jacques (guarantor), Petr SMEJKAL (203 Czech Republic, belonging to the institution), Katarzina MAYGER (826 United Kingdom of Great Britain and Northern Ireland), Gary MOORE (826 United Kingdom of Great Britain and Northern Ireland), Jan BLATNY (203 Czech Republic), Miroslav PENKA (203 Czech Republic, belonging to the institution), Ulrich BUDDE (276 Germany), Zwi BERNEMAN (56 Belgium), Inge VANGENECHTEN (56 Belgium) and Alain GADISSEUR (56 Belgium).
Edition International Journal of Clinical and Experimental Medical Sciences, Science Publishing Group, 2019, 1940-5901.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 30101 Human genetics
Country of publisher United States of America
Confidentiality degree is not subject to a state or trade secret
WWW URL
Impact factor Impact factor: 0.166
RIV identification code RIV/00216224:14110/19:00111681
Organization unit Faculty of Medicine
Keywords in English Von Willebrand Disease; Von Willebrand Factor
Tags International impact, Reviewed
Changed by Changed by: Mgr. Tereza Miškechová, učo 341652. Changed: 5/5/2020 09:26.
Abstract
A complete set of rapid activity and classical von Willebrand factor (VWF) assays for Willebrand disease (VWD) diagnosis was used in the present study to characterize VWD type 1, 2A, 2B and 2M patients due to mutations in the A1, A2 and A3 domains. The VWF:RCo/VWF:Ag, VWF:GPIbM/VWF:Ag and VWF:GPIbR/VWF:Ag ratios at cuttt off value of 0.7 separated VWD type 1 and LowVWF from VWD type 2. The results from the Brno cohort of VWD 2A patients with the G1579R mutation in the A2 domain in sixteen affected member from five families and in one case with the G1609R in the A2 domain revealed that the VWF:GPIbM/VWF:Ag and VWF:GPIbR/VWF: Ag ratios are marked decreased (range 0.03-0.27) to a similar degree as compared to VWF:RCo/VWF:Ag and VWF:CB/VWF:Ag ratios (range 0.03-0.27) due to the proteolytic loss of large and intermediate VWF multimers. The results in VWD 2B patients due to gain of ristocetin induced platelet agglutination (RIPA) function mutations R1306W, R1308C and R1341 in the A1 domain demonstrated that the ratios for VWF:GPIbM/VWF:Ag and VWF:GPIbR/VWF:Ag as compared to VWF:RCo/VWF:Ag ratio were markedly decreased in VWD 2B, whereas the VWF:GPIbM/VWF:Ag ratio was somewhat higher (range 0.32 to 0.36) in VWD 2M. VWD 2M patients due to loss of RIPA function mutation R1359K in the A1 domain are featured by decreased VWF ratios for WVF:RCo/Ag and VWF:GPIbR/Ag, but less decreased for the VWF:GPIbM/Ag ratio and normal VWF ratio for VWF:CB/Ag ratio the need to retain the VWF:CB assay to make a correct diagnosis of VWD 2M for its differentiation from VWD type 1. The G1415D mutation in the A1 domain is featured by decreased RIPA and decreased VWF:RCo/VWF:Ag ratio (VWD 2M) but normal values for VWF:CB/VWF:Ag, VWF:GPIbM/VWF:Ag and VWFGPIbR/VWF:Ag ratios consistent with VWD 2M. Double heterozygous P1266L/V1278I mutation in two patients and heterozygous E1292D/WT mutation in three patients in the A1 domain were diagnosed as VWD 2M or 1M associated with a secretion defect (SD). The Platelet Function Analyzer Closure Times (PFA-CT) are strongly prolonged in VWD 2A, 2B and 2M. and moderately prolonged between the upper limit of normal to 300 seconds in heterozygous mutated VWD type 1 patients.
PrintDisplayed: 31/5/2024 18:29