Determinants of quality of life in hereditary haemorrhagic telangiectasia: the relative roles of bleeding, anaemia and visceral involvement

Abstract Background and aims Hereditary haemorrhagic telangiectasia (HHT) is a multisystem vascular disorder characterised by recurrent bleeding and visceral arteriovenous malformations (AVMs). Although anaemia and reduced quality of life (QoL) are common, the relative contribution of disease manifestations to patient-perceived health status remains unclear. This study aimed to assess the prevalence of iron deficiency (ID) and anaemia and to evaluate the impact of disease manifestations on QoL and health utility in patients with HHT. Methods In this cross-sectional cohort study, all known patients with HHT from two Danish regions were invited to participate. Participants underwent clinical assessment, laboratory testing and completion of the Epistaxis Severity Score (ESS), the Short Form-36 (SF-36) and the EQ-5D-5 L questionnaires. Visceral AVM data were obtained from routine clinical screening. Multivariable linear regression analyses were performed to identify factors independently associated with QoL and health utility. Results A total of 152 patients were included. The prevalence of ID and anaemia was 20.3% and 19.1%, respectively. Most patients had no or mild epistaxis; however, higher ESS scores were independently associated with lower haemoglobin levels and increased odds of anaemia. In multivariable analyses, increasing ESS was significantly associated with lower SF-36 vitality and general health scores and reduced EQ-5D-5L index values. Iron deficiency was independently associated with lower health utility, whereas visceral AVMs were not independently linked to QoL outcomes. Conclusion In this population-based HHT cohort, epistaxis severity was more strongly associated with impaired QoL and health utility than visceral organ involvement. These findings highlight the importance of systematic assessment and management of bleeding and iron deficiency in HHT.