BACKGROUND Studies evaluating health-related quality of life (HRQOL) in patients with hereditary hemorrhagic telangiectasia (HHT) have expanded rapidly in the past decade. These studies have evaluated QOL aspects ranging from the general QOL for patients living with HHT to intervention-specific outcomes. However, few tools have been fully validated across the spectrum of disease manifestations and interventions in HHT. OBJECTIVE In this scoping review, we aim to map the literature on HHT-QOL metrics, identify gaps, inform future QOL research, and facilitate future metric development. METHODS We analyzed articles in English that assessed at least 1 measure of general HRQOL, including physical health, mental health, social health, or intervention-specific QOL in patients with HHT. Searches across 2 bibliographic databases (PubMed and Scopus) yielded 186 articles after duplicates were removed. Sixty-three studies met eligibility criteria: 22 prospective studies (34.9%), 20 retrospective studies (31.7%), 12 cross-sectional studies (17.5%), 6 randomized controlled trials or secondary analyses of a randomized controlled trials (9.5%), 2 qualitative studies (3.2%), and 1 case-control study (1.6%). Two additional studies-1 prospective and 1 cross-sectional study-were identified at the October 2022 14th International HHT Conference and included, making a total of 65 studies. RESULTS The 65 eligible studies used 30 QOL instruments. Twenty studies characterized baseline HRQOL, and 45 studies evaluated QOL before and after treatment. Of those 45 studies, 37 evaluated HRQOL before and after therapies targeting epistaxis and nasal symptoms, 4 targeted therapies for liver arteriovenous malformations and high-output heart failure, 3 evaluated therapies for both epistaxis and gastrointestinal bleeding, and 1 evaluated treatment targeting gastrointestinal bleeding alone. CONCLUSIONS Comparison of results across studies remains challenging given the heterogeneity in outcomes measures. Further development of HHT-specific patient-reported outcomes instruments that capture the global illness experience of HHT is needed.

中文翻译：

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遗传性出血性毛细血管扩张症患者的健康相关生活质量结果测量：范围界定审查。

背景 评估遗传性出血性毛细血管扩张症（HHT）患者的健康相关生活质量（HRQOL）的研究在过去十年中迅速扩展。这些研究评估了生活质量方面，从 HHT 患者的一般生活质量到特定干预结果。然而，很少有工具在 HHT 的疾病表现和干预措施方面得到充分验证。目标 在本次范围界定审查中，我们的目标是绘制有关 HHT-QOL 指标的文献，找出差距，为未来的 QOL 研究提供信息，并促进未来指标的开发。方法 我们分析了评估至少 1 项一般 HRQOL 指标的英文文章，包括 HHT 患者的身体健康、心理健康、社会健康或干预特定的 QOL。删除重复项后，对 2 个书目数据库（PubMed 和 Scopus）进行搜索，得出 186 篇文章。63 项研究符合资格标准：22 项前瞻性研究 (34.9%)、20 项回顾性研究 (31.7%)、12 项横断面研究 (17.5%)、6 项随机对照试验或随机对照试验的二次分析 (9.5%) 、 2 项定性研究 (3.2%) 和 1 项病例对照研究 (1.6%)。2022 年 10 月第 14 届国际 HHT 会议确定并纳入了另外两项研究（一项前瞻性研究和一项横断面研究），总计 65 项研究。结果 65 项符合条件的研究使用了 30 种 QOL 工具。20 项研究描述了基线 HRQOL，45 项研究评估了治疗前后的 QOL。在这 45 项研究中，37 项评估针对鼻出血和鼻部症状的治疗前后的 HRQOL，4 项针对肝动静脉畸形和高输出量心力衰竭的靶向治疗，3 项评估鼻出血和胃肠道出血的治疗，1 项评估单独针对胃肠道出血的治疗。结论 鉴于结果测量的异质性，跨研究结果的比较仍然具有挑战性。需要进一步开发针对 HHT 的患者报告结果工具，以捕获 HHT 的全球疾病经验。