Evidence map›Paper›PMID 40055726›Full record

ArticleOrphanet journal of rare diseases2025

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

Anna J Gong, Marisabel Linares Bolsegui, Emerson E Lee, Matthew R Tan, Yong Zeng, Jianqiao Ma, Prateek C Gowda, Tushar Garg, Clifford R Weiss

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Anna J GongDepartment of Radiology and Radiological Science, The Johns Hopkins School of Medicine, 7203 Sheikh Zayed Tower, Suite 7, 1800 Orleans Street, Baltimore, MD, 21287, USA.
Marisabel Linares BolseguiDepartment of Radiology and Radiological Science, The Johns Hopkins School of Medicine, 7203 Sheikh Zayed Tower, Suite 7, 1800 Orleans Street, Baltimore, MD, 21287, USA.
Emerson E LeeDepartment of Radiology and Radiological Science, The Johns Hopkins School of Medicine, 7203 Sheikh Zayed Tower, Suite 7, 1800 Orleans Street, Baltimore, MD, 21287, USA.
Matthew R TanDepartment of Radiology and Radiological Science, The Johns Hopkins School of Medicine, 7203 Sheikh Zayed Tower, Suite 7, 1800 Orleans Street, Baltimore, MD, 21287, USA.
Yong ZengBiostatistics, Epidemiology, and Data Management (BEAD) Core, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Jianqiao MaBiostatistics, Epidemiology, and Data Management (BEAD) Core, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Prateek C GowdaDepartment of Radiology and Radiological Science, The Johns Hopkins School of Medicine, 7203 Sheikh Zayed Tower, Suite 7, 1800 Orleans Street, Baltimore, MD, 21287, USA.
Tushar GargDepartment of Radiology and Radiological Science, The Johns Hopkins School of Medicine, 7203 Sheikh Zayed Tower, Suite 7, 1800 Orleans Street, Baltimore, MD, 21287, USA.
Clifford R WeissDepartment of Radiology and Radiological Science, The Johns Hopkins School of Medicine, 7203 Sheikh Zayed Tower, Suite 7, 1800 Orleans Street, Baltimore, MD, 21287, USA. cweiss@jhmi.edu.ORCID http://orcid.org/0000-0003-2180-1731

Funding

CureHHT Foundation CureHHT Foundation
6 · The paper itself

Abstract

backgroundDespite 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.

methodsWe 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.

results565/1042 (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.

conclusionsSevere 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.

Indexed as

Quality of LifeTelangiectasia, Hereditary HemorrhagicAdultAgedAnxietyCross-Sectional StudiesEpistaxisFatigueFemaleHumansMaleMental HealthMiddle AgedSurveys and QuestionnairesHHTPatient-reported outcome (PRO)Quality of life (QOL)

Identifiers

PMID40055726
PMCPMC11889918

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.