Quantifying the burden of hereditary hemorrhagic telangiectasia on quality of life and psychological health: a cross-sectional study.

Background: Despite the considerable burden that hereditary hemorrhagic telangiectasia (HHT) imposes, few studies have investigated its effect on health-related quality of life (HRQoL). We aimed to assess the impact of HHT on psychosocial QoL and identify demographic and clinical factors associated with lower QoL.

Methods: We conducted an international, cross-sectional study of 1042 adults with HHT within the Cure HHT network, between 2022 and 2023. We used an online survey that included 5 standardized instruments to evaluate patients' perceptions of the impact of HHT on their QoL: Epistaxis Severity Score (ESS); Nasal Outcome Score for Epistaxis in Hereditary Hemorrhagic Telangiectasia (NOSE-HHT); Patient-Reported Outcomes Measurement Information System (PROMIS) Fatigue - Short Form 8a - Fatigue interfere scale (PROMIS-Fatigue 8a); Hospital Anxiety and Depression Scale (HADS-A and HADS-D); and Short Form Health Survey (SF-36). Statistical analyses included Spearman's correlations, univariate analyses, Tukey's honestly significant difference, and Kruskal-Wallis tests.

Results: 565/1042 (54%) participants completed the survey. The most common symptoms were epistaxis 521/565 (92%) and fatigue 446/565 (79%). There were strong positive correlations between HADS-A and ESS (2.6 [95% CI 1.7-3.6]) and NOSE-HHT (4 [3.2-5]); HADS-D and ESS (1.4 [1.3-1.5]) and NOSE-HHT (4.4 [3.4-5.7]); PROMIS Fatigue 8a and ESS (8.2 [6.3-10]) and NOSE-HHT (5.9 [5.2-6.6]); and SF-36 scores and ESS (- 26.4 [- 33 to - 19.9]) and NOSE-HHT (- 33.1 [- 39.7 to - 28.6]). Liver failure and seizures indicated a higher likelihood of depression (3.1 [1-5.2]), anxiety (3 [0.6-5.4]), and fatigue (9.6 [4.7-14.5]). Seizures were associated with depression (2.9 [1.8-3.9]), anxiety (2.9 [1.7-4.1]), and fatigue (5 [2.34-7.7]). Participants expressed a substantial effect on their physical (143/560 [25%]), role (140/556 [25%]), emotional (124/554 [22%]), social (104/556 [18%]), and cognitive (64/550 [11%]) functioning. However, more participants considered extremely important to improve their physical (289/560 [51%]), cognitive (266/550 [47%]), role (253/556 [43%]), emotional (243/554 [45%]), and social (233/556 [41%]) functioning affected by HHT.

Conclusions: Severe epistaxis is associated with higher rates of depression, anxiety, and fatigue. Participants expressed desire for improvement in a broad range of functional domains disturbed by HHT. This suggests a need for increased awareness, resources, and more effective interventions to improve the QOL of patients with HHT.