Patient-reported outcomes in autosomal inherited bleeding disorders: A systematic literature review

Evelien S. van Hoorn, Maite E. Houwing, the SYMPHONY consortium, Wala Al Arashi*, Frank W.G. Leebeek, Jan A. Hazelzet, Samantha C. Gouw, Roger E.G. Schutgens, Saskia E.M. Schols, Hester F. Lingsma, Marjon H. Cnossen

*Corresponding author for this work

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Aim: Currently, it is unknown which patient-reported outcomes are important for patients with autosomal inherited bleeding disorders. Therefore, the purpose of this study is to systematically review the available literature assessing patient-reported outcomes and their measurement methods in autosomal inherited bleeding disorders. Methods: The Embase, Medline ALL, Web of Science Core Collection, Cochrane Central Register of Controlled Trails and Google Scholar databases were searched from inception until 14 August 2020. Studies on patient-reported outcomes in patients with von Willebrand disease, inherited platelet function disorders and coagulation factor deficiencies were included. Results: Twenty-one articles met the inclusion criteria. Three studies were assessed as having poor quality, and therefore a high risk of bias. Nineteen studies had fair quality rating. Different measurements methods were used, ranging from predefined to self-developed questionnaires. The majority of included studies focused on von Willebrand disease. Patients with von Willebrand disease reported lower health-related quality of life compared to the general population. Overall, this trend was especially visible in the following domains: vitality, physical and social functioning and pain. Women with inherited bleeding disorders scored lower on health-related quality of life compared to men, especially women with heavy menstrual bleeding. Patients with joint bleeds or heavy menstrual bleeding reported an increased level of pain. Conclusion: Patients with autosomal inherited bleeding disorders report lower health related quality of life, especially those with joint bleeds or heavy menstrual bleeding. Numerous measurement methods are used in patients with autosomal inherited bleeding disorders, highlighting the need for studies using established, standardized measurement methods.

Original languageEnglish
Pages (from-to)197-214
Number of pages18
Issue number2
Publication statusAccepted/In press - 18 Jan 2022

Bibliographical note

Funding Information:
F.W.G. Leebeek has received unrestricted research grants from CSL Behring, Shire/Takeda, Sobi and uniQure. He is a consultant for CSL Behring, Shire/Takeda, Biomarin and uniQure, of which the fees go to the University. He received travel support from Sobi. He is DSMB member of a study sponsored by Roche. S.C. Gouw received unrestricted research grant from Sobi. R.E.G. Schutgens has received unrestricted research and speaker fees from Bayer, Shire, NovoNordisk, Sobi and Octapharma. S.E.M. Schols has received travel grants from Takeda and Bayer, an unrestricted educational grant from Takeda and has served as a steering board member for Roche and Novo Nordisk. M.H. Cnossen has received investigator‐initiated research‐ and travel grants over the years from the Netherlands Organization for Scientific Research (NWO), the Netherlands Organization for Health Research and Development (ZonMw), the Dutch ‘Innovatiefonds Zorgverzekeraars’, Pfizer, Baxter/Baxalta/Shire, Bayer Schering Pharma, CSL Behring, Sobi, Novo Nordisk, Novartis and Nordic Pharma and has served as a steering board member for Roche and Bayer. All grants, awards and fees go to the institution. The other authors declare no conflicts of interest relevant to the contents of this manuscript.

Funding Information:
The authors wish to thank Dr M.F.M. Engel from the Erasmus MC Medical Library for developing and updating the search strategies. The SYMPHONY consortium, which aims to orchestrate personalized treatment in patients with bleeding disorders, is a unique collaboration between patients, health care professionals and translational and fundamental researchers specialized in inherited bleeding disorders, as well as experts from multiple disciplines. SYMPHONY aims to identify best treatment choice for each individual based on bleeding phenotype. In order to achieve this goal, workpackages have been organized according to three themes, for example, Diagnostics (workpackage 3&4), Treatment (workpackages 5–9) and Fundamental Research (workpackages 10–12). This research received funding from the Netherlands Organization for Scientific Research (NWO) in the framework of the NWA‐ORC Call grant agreement NWA.1160.18.038. Principal investigator: Dr M.H. Cnossen. Beneficiaries of the SYMPHONY consortium: Erasmus MC – Sophia Children's Hospital, University Medical Centre Rotterdam, project leadership and coordination; Sanquin Diagnostics; Sanquin Research; Amsterdam University Medical Centres; University Medical Center Groningen; University Medical Centre Utrecht; Leiden University Medical Centre; Radboud University Medical Centre; Netherlands Society of Haemophilia Patients (NVHP); Netherlands Society for Thrombosis and Haemostasis (NVTH); Bayer B.V., CSL Behring B.V., Swedish Orphan Biovitrum (Belgium) BVBA/SPRL.

Publisher Copyright:
© 2022 The Authors. Haemophilia published by John Wiley & Sons Ltd.


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