SIR 2024
Practice Development
Marisabel Linares-Bolsegui, MD, MPH (she/her/hers)
Postdoctoral Research Fellow
The Johns Hopkins Hospital
Financial relationships: Full list of relationships is listed on the CME information page.
Tushar Garg, MD (he/him/his)
Postdoctoral Research Fellow
Johns Hopkins University School of Medicine
Disclosure information not submitted.
Sophia Kemble, RN
HHT Nurse Coordinator
The Johns Hopkins University
Disclosure information not submitted.
Clifford R. Weiss, MD, FSIR
Professor of Radiology and Biomedical Engineering
The Johns Hopkins Hospital
Financial relationships: Full list of relationships is listed on the CME information page.
Hereditary Hemorrhagic Telangiectasia (HHT) is a disorder characterized by multiple arteriovenous malformations (AVMs) and telangiectasias. The wide range of these clinical manifestations significantly impacts patients' quality of life (QoL). Despite the considerable burden that HHT imposes on patients, limited research has been conducted in this area. The aim of this study is to assess the impact of HHT on QoL, as well as to identify demographic and clinical factors associated with lower QoL.
Materials and methods: An international cross-sectional survey study was conducted between March and April 2022 using the Cure HHT international network. Participants completed a survey battery that included different questions regarding their perception of the impact of HHT on their QoL, and five standardized instruments: ESS, NOSE-HHT, PROMIS Fatigue Scale-8a, HADS-A, HADS-D, and SF-36, Spearman’s correlations, Univariate analyses, Tukey’s HSD test and Kruskal-Wallis analysis were used.
Results: A total of 565/1042 participants completed the survey. Epistaxis (92.2%) and fatigue (78.9%) were the most common symptoms reported. There was a significant correlation between severe ESS scores and higher HADS-D (β=3.3 p < 0.001), HADS-A (β=2.4 p < 0.001), PROMIS-fatigue (β=8 p < 0.001) and lower SF-36 (β= – 26.4 p < 0.001) scores. Liver failure and seizures were significant predictors for higher likelihood of depression, anxiety and fatigue. Participants expressed a significant impact on their physical (25%), role (25%), emotional (22%), social (18%) and cognitive (11%) functioning. However, a higher number of participants considered it was extremely important to improve their physical (51%), cognitive (47%), role (43%) and emotional (45%) functioning.
Conclusion: These findings contribute to a more comprehensive understanding of the impact of HHT on QoL and psychological health. Patients with worse ESS were found to be more likely to meet criteria for depression, anxiety and fatigue. Additionally, HHT patients expressed a desire for improvement in a broad range of functional domains. These results suggest a need for increased awareness and more effective interventions to improve the QoL of HHT patients.