Health-Related Quality of Life in Rare Bleeding Disorders: Results from the Rare Bleeding Disorders in the Netherlands Study

Authors: Willems, SP; Cnossen, MH; van Es, N; Exter, PL den; Kruis, IC; Meijer, K; Nieuwenhuizen, L; Saes, JL; Blijlevens, NM; van Heerde, WL; Schols, SE

Affiliations: Radboud Univ Nijmegen, Med Ctr, Dept Hematol, POB 9101, NL-6500 HB Nijmegen, Netherlands; Hemophilia Treatment Ctr, Nijmegen Eindhoven Maastr, Netherlands; Univ Med Ctr Rotterdam, Erasmus MC Sophia Childrens Hosp, Dept Pediat Hematol Oncol, Rotterdam, Netherlands; Amsterdam UMC Locat Univ Amsterdam, Dept Vasc Med, Amsterdam, Netherlands; Amsterdam Cardiovasc Sci, Pulm Hypertens & Thrombosis, Amsterdam, Netherlands; Leiden Univ, Med Ctr, Dept Med Thrombosis & Hemostasis, Leiden, Netherlands; Dutch Assoc Hemophilia Patients, Nijkerk, Netherlands; Univ Med Ctr Groningen, Dept Hematol, Groningen, Netherlands; Maxima Med Ctr Eindhoven, Dept Hematol, Eindhoven, Netherlands; Univ Med Ctr Utrecht, Ctr Benign Haematol Thrombosis & Haemostasis, Van Creveldklin, Utrecht, Netherlands; Univ Utrecht, Utrecht, Netherlands; Enzyre BV, Novio Tech Campus, Nijmegen.

Publication: Netherlands Research and Practice in Thrombosis and Haemostasis ; 2025; 9

ABSTRACT: 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 no severe 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.