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

Abstract

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.

Patient-relevant health outcomes for von Willebrand disease, platelet function disorders, and rare bleeding disorders: a Delphi study

“…Before the first Delphi round, a long list of health outcomes was developed based on the long-list used by the CoreHEM and Haemovalue initiatives on health outcomes for persons with hemophilia [ 12 , 19 ]. These long-lists were enriched with the findings of a systematic review on patient-reported outcomes in patients with autosomal inherited bleeding disorders [ 14 ]. A plain language definition was provided for each health outcome.…”

“…It is uncertain whether these identified health outcomes that are important for persons with hemophilia are transferable to patients with autosomal inherited bleeding disorders. Whereas the hemophilia population largely consists of men, a large proportion of patients with autosomal inherited bleeding disorders comprises females, who experience sex-specific health outcomes, such as menorrhagia and pregnancy complications [ 14 , 15 ]. Therefore, this study aimed to assess which health outcomes are important specifically for patients with autosomal inherited bleeding disorders, consisting of von Willebrand disease, platelet function disorders, and rare bleeding disorders, from the patients’, caregivers’, and healthcare professionals’ perspectives.…”

Effect of etranacogene dezaparvovec on quality of life for severe and moderately severe haemophilia B participants: Results from the phase III HOPE‐B trial 2 years after gene therapy

“…3 Bleeds cause fear and impairment in physical functioning that negatively affects health-related quality of life (HRQoL). 4 Haemophilia B treatment currently involves FIX replacement with either standard or extended half-life products. 1,5 FIX replacement adherence can be difficult, with 25% of people with haemophilia aged 18−30 years being non-adherent, and some choosing to decrease their dosing frequency to mitigate this burden.…”

“…Joint bleeds are a major concern, resulting in chronic pain, long‐term joint damage and mobility deficits 3 . Bleeds cause fear and impairment in physical functioning that negatively affects health‐related quality of life (HRQoL) 4 …”

Disability and the social impact of hemophilia

“…Social and economic factors are essential for the protection of health. Patients with autosomal inherited bleeding disorders report lower health related quality of life, especially those with joint bleeds [1]. In the case of people with hemophilia or other coagulopathies, apart from providing them with the medical treatment they need it is important to help them acquire the strategies required to deal with the physical, emotional, and social challenges they are likely to encounter at the different stages of their lives [2,3].…”