While many studies of effective hereditary angioedema (HAE) therapy have demonstrated improved health-related quality of life (HRQoL) using validated instruments, specific reasons behind the improved scores have never been investigated using qualitative methods. A non-interventional, qualitative research study was designed to investigate the reasons for improvements in HRQoL while using effective prophylaxis, in this case subcutaneous C1INH (C1INH[SC]) replacement therapy. Adult patients with HAE-C1INH type 1 or 2 who had been using C1INH(SC) for ≥ 3 consecutive months were recruited through four HAE specialty practices in the US to participate in a 60-min phone interview performed by a trained qualitative research specialist (ICON plc) using a semi-structured interview guide with open-ended questions developed with the Angioedema Quality of Life (AE-QoL) items in mind. Interview transcripts were analyzed using thematic analysis methods to identify concepts (specific symptoms/impacts) and themes (higher-level categories grouping related concepts). A cross-mapping exercise was performed between interview-identified concepts and items included in the AE-QoL. Fourteen patients were interviewed and included in the analysis (age range, 28–82 years [mean 47.5 years]; 64% female; 93% white). In 10 interviews, patients mentioned having no or nearly no HAE attacks, no longer feeling limited by HAE, less HAE-related anxiety/worry and depression, an improved ability to travel, fewer emergency room/hospital visits, and ease of administration of C1INH(SC), including not requiring assistance from others. Other commonly expressed concepts included: increased feelings of confidence, independence, optimism, and normalcy; less absence from work/school; better productivity; improved sleep and energy; healthier family relationships; and improved cognition. While all AE-QoL items emerged from patient interviews, a number of identified concepts were not addressed by the AE-QoL, including sensitivity to various potential attack-triggers (e.g., stress/anxiety, sports), attack frequency, not having to cancel social plans, improvements in ability to perform day-to-day tasks, and a lower burden from medical visits. From these interviews, a large number of common themes and concepts emerged: a greater sense of freedom and normalcy, increased productivity, and improved interpersonal relationships while using convenient and effective prophylaxis. These findings provide insights into real-world experiences and the many facets of HRQoL that are important to patients with HAE-C1INH.

中文翻译：

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让患者说话：使用皮下 C1 抑制剂替代疗法对真实世界遗传性血管性水肿患者的健康相关生活质量相关因素进行深入的、基于定性研究的调查

虽然许多关于有效遗传性血管性水肿 (HAE) 治疗的研究已经证明使用经过验证的仪器改善了与健康相关的生活质量 (HRQoL)，但从未使用定性方法研究过分数提高背后的具体原因。一项非干预性定性研究旨在调查在使用有效预防措施（在本例中为皮下 C1INH (C1INH[SC]) 替代疗法）时改善 HRQoL 的原因。通过美国的四个 HAE 专业实践招募了连续使用 C1INH(SC) ≥ 3 个月的 HAE-C1INH 1 型或 2 型成年患者，参加由训练有素的定性研究专家进行的 60 分钟电话采访（ ICON plc) 使用半结构化访谈指南，其中包含考虑血管性水肿生活质量 (AE-QoL) 项目的开放式问题。使用主题分析方法分析访谈记录，以识别概念（特定症状/影响）和主题（对相关概念进行分组的更高级别类别）。在访谈确定的概念和包含在 AE-QoL 中的项目之间进行了交叉映射练习。14 名患者接受了采访并纳入分析（年龄范围，28-82 岁 [平均 47.5 岁]；64% 女性；93% 白人）。在 10 次采访中，患者提到没有或几乎没有 HAE 发作，不再受到 HAE 的限制，与 HAE 相关的焦虑/担忧和抑郁减少，旅行能力提高，急诊室/医院就诊次数减少，以及易于使用 C1INH(SC)，包括不需要他人的帮助。其他普遍表达的概念包括：增加自信、独立、乐观和正常的感觉；减少缺勤/上学；更好的生产力；改善睡眠和精力；更健康的家庭关系；和提高认知。虽然所有 AE-QoL 项目都来自患者访谈，但 AE-QoL 并未涉及许多已确定的概念，包括对各种潜在攻击触发因素（例如，压力/焦虑、运动）的敏感性、攻击频率、不必取消社会计划，提高执行日常任务的能力，减轻就医负担。从这些采访中，出现了大量共同的主题和概念：在使用方便有效的预防措施的同时，更大的自由感和常态感，提高了生产力，改善了人际关系。这些发现提供了对现实世界经验和 HRQoL 的许多方面的见解，这些方面对 HAE-C1INH 患者很重要。