Application of genetic testing for the diagnosis of von Willebrand disease.

Autor:	Seidizadeh O; Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milan, Italy; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy. Electronic address: https://twitter.com/OmidSeidi., Baronciani L; Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milan, Italy., Lillicrap D; Department of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada. Electronic address: https://twitter.com/DavidLillicrap., Peyvandi F; Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milan, Italy; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy. Electronic address: flora.peyvandi@unimi.it.
Jazyk:	angličtina
Zdroj:	Journal of thrombosis and haemostasis : JTH [J Thromb Haemost] 2024 Aug; Vol. 22 (8), pp. 2115-2128. Date of Electronic Publication: 2024 May 16.
DOI:	10.1016/j.jtha.2024.05.006
Abstrakt:	von Willebrand disease (VWD) is the most frequent inherited bleeding disorder, with an estimated symptomatic prevalence of 1 per 1000 in the general population. VWD is characterized by defects in the quantity, quality, or multimeric structure of von Willebrand factor (VWF), a glycoprotein being hemostatically essential in circulation. VWD is classified into 3 principal types: low VWF/type 1 with partial quantitative deficiency of VWF, type 3 with virtual absence of VWF, and type 2 with functional abnormalities of VWF, being classified as 2A, 2B, 2M, and 2N. A new VWD type has been officially recognized by the ISTH SSC on von Willebrand factor which has also been discussed by the joint ASH/ISTH/NHF/WFH 2021 guidelines (ie, type 1C), indicating patients with quantitative deficiency due to an enhanced VWF clearance. With the advent of next-generation sequencing technologies, the process of genetic diagnosis has substantially changed and improved accuracy. Therefore, nowadays, patients with type 3 and severe type 1 VWD can benefit from genetic testing as much as type 2 VWD. Specifically, genetic testing can be used to confirm or differentiate a VWD diagnosis, as well as to provide genetic counseling. The focus of this manuscript is to discuss the current knowledge on VWD molecular pathophysiology and the application of genetic testing for VWD diagnosis. Competing Interests: Declaration of competing interests F.P. serves on the advisory committee of CSL-Behring, BioMarin, Roche, Sanofi, and Sobi and participated in educational meetings/symposia of Takeda/Spark. D.L. reports research support from BioMarin, CSL-Behring, and Sanofi and participates in an advisory role for BioMarin, CSL-Behring, Novo Nordisk, and Pfizer. The other authors state that they have no conflict of interest. (Copyright © 2024 International Society on Thrombosis and Haemostasis. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu