New developments in von Willebrand disease
journal contributionposted on 01.07.2021, 16:21 by Helen Fogarty, Dearbhla Doherty, James O'Donnell
Von Willebrand disease (VWD) constitutes the most common inherited human bleeding disorder. It is associated with a mucocutaneous bleeding phenotype that can significantly impact upon quality of life. Despite its prevalence and associated morbidity, the diagnosis and subclassification of VWD continue to pose significant clinical challenges. This is in part attributable to the fact that plasma von Willebrand factor (VWF) levels vary over a wide range in the normal population, together with the multiple different physiological functions played by VWF in vivo. Over recent years, substantial progress has been achieved in elucidating the biological roles of VWF. Significant advances have also been made into defining the pathophysiological mechanisms underpinning both quantitative and qualitative VWD. In particular, several new laboratory assays have been developed that enable more precise assessment of specific aspects of VWF activity. In the present review, we discuss these recent developments in the field of VWD diagnosis, and consider how these advances can impact upon clinical diagnostic algorithms for use in routine clinical practice. In addition, we review some important recent advances pertaining to the various treatment options available for managing patients with VWD.
Health Research Board (Grant Number 203930/B/16/Z)
Health Service Executive, National Doctors Training and Planning
Science Foundation Ireland Principal Investigator Award (11/PI/1066)
Health Research Board Investigator Lead Project Award (ILP-POR-2017-008)
National Children’s Research Centre Project Award (C/18/1)
The Health and Social Care, Research and Development Division, Northern Ireland.
CommentsThis is the peer reviewed version of the following article:, Fogarty H, Doherty D, O'Donnell JS. New developments in von Willebrand disease. Br J Haematol. 2020;191(3):329-339, which has been published in final form at DOI: https://doi.org/10.1111/bjh.16681. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.
Published CitationFogarty H, Doherty D, O'Donnell JS. New developments in von Willebrand disease. Br J Haematol. 2020;191(3):329-339.
Publication Date12 May 2020
- Irish Centre for Vascular Biology
- School of Pharmacy and Biomolecular Sciences
- Vascular Biology
- Accepted Version (Postprint)
Disease SusceptibilityGenetic Predisposition to DiseaseTreatment OutcomeCombined Modality TherapyMolecular Diagnostic TechniquesGenotypePhenotypeDisease Managementvon Willebrand DiseasesGenetic Association StudiesBiomarkersClinical Decision-MakingLow VWFvon Willebrand diseasevon Willebrand factorImmunologyCardiorespiratory Medicine and HaematologyBleeding disorders