Effectiveness of health-related quality of life assessment scales in patients with haemophilia after treatment: Systematic review

Background

Haemophilia is a hereditary bleeding disorder that impacts patients' physical, psychological, and social well-being. While advancements in treatments have improved clinical outcomes, the tools used to assess their effect on health-related quality of life (HRQoL) vary widely. This study evaluates the effectiveness and variability of HRQoL assessment scales in haemophilia patients after treatment and identifies factors influencing QoL outcomes.

Methods

A systematic review, adhering to PRISMA guidelines, was conducted on studies published up to December 2024. Included studies involved haemophilia patients and reported QoL outcomes post-treatment. Data were extracted on study characteristics, patient demographics, interventions, and quality assessment using the Cochrane Risk of Bias Tool. Findings were synthesised to identify key themes affecting QoL.

Results

The review included 52 studies, covering treatments such as prophylactic therapies, factor replacement, and gene therapy. Most studies showed significant QoL improvements, particularly in severe cases, with reductions in annual bleed rates (ABR) up to 99 % and improved joint health. Outcome variability was heavily influenced by the choice of HRQoL instruments, with 55.8 % of studies using a combination of generic and disease-specific scales. Disease-specific scales (e.g., Haemo-QOL) effectively captured haemophilia-related symptoms, while generic scales (e.g., EQ-5D) measured broader health dimensions. However, inconsistencies in instrument application contributed to disparities in reported QoL improvements. Dual-scale approaches provided more comprehensive insights, though moderate haemophilia was underrepresented.

Conclusions

The study emphasises the need for standardised and comprehensive QoL assessment tools to evaluate haemophilia treatments accurately. Prophylactic therapies and extended half-life factor concentrates showed significant QoL improvements. Future research should focus on standardising assessment scales and integrating psychosocial dimensions to fully capture treatment impacts.