Health-related quality of life in rare bleeding disorders: results from the Rare Bleeding Disorders in the Netherlands study

BACKGROUND: Clinical bleeding phenotype varies substantially among patients with rare bleeding disorders (RBDs). Patient-reported outcomes may provide valuable insights into health-related quality of life (HRQoL) and disease burden.

OBJECTIVES: To evaluate HRQoL in patients with rare coagulation factor deficiencies and fibrinolytic disorders included in the nationwide, cross-sectional Rare Bleeding Disorders in the Netherlands (RBiN) study.

METHODS: Bleeding scores (ie, the International Society on Thrombosis and Haemostasis Bleeding Assessment Tool [ISTH-BAT]) were assessed during a single study visit, and electronic questionnaires captured demographic and HRQoL data (36-item Short Form survey [SF-36], Patient-Reported Outcomes Measurement Information System, Profile 29 [PROMIS-29]). Only differences exceeding the minimally important difference were considered clinically relevant and reported.

RESULTS: HRQoL data from 167 adults and 34 children were available. HRQoL of patients with RBDs measured by SF-36 was not significantly different compared to the Dutch reference population. PROMIS-29 scores indicated significantly better sleep, social participation, and pain-related outcomes in patients with RBDs than the reference populations. Subgroup analyses within the RBiN population showed worse physical health in patients with a severe bleeding phenotype than in those with a mild-to-moderate phenotype. Women with a history of heavy menstrual bleeding reported worse physical health and pain-related outcomes than those without. Patients reporting severe disease had worse pain interference and mental health scores (PROMIS-29) than those reporting nonsevere disease. ISTH-BAT scores were negatively associated with physical functioning.

CONCLUSIONS: Overall HRQoL in patients with RBDs was comparable to the Dutch reference population. Within the RBiN population, a history of heavy menstrual bleeding, clinical bleeding phenotype, patient-reported disease severity, and ISTH-BAT scores were associated with impaired HRQoL, reflecting disease burden in patients living with RBDs.