Broderick Lynne, Foster April, Waldman Laura Tesler, Bordone Laura, Yarlas Aaron
QualityMetric, an IQVIA business, 1301 Atwood Avenue, Suite 216E, Johnston, RI, 02919, USA.
Ionis Pharmaceuticals, Inc, 2855 Gazelle Court, Carlsbad, CA, 92010, USA.
Orphanet J Rare Dis. 2025 Jan 10;20(1):16. doi: 10.1186/s13023-025-03539-0.
Hereditary angioedema (HAE) is a rare, autosomal dominant disorder causing swelling attacks in various parts of the body, resulting in impacts on health-related quality of life (HRQoL). The symptoms of HAE and its impacts on HRQoL have been well-documented in adults; however, relatively little is known about the experiences of adolescents with HAE. The objective of this study was to use qualitative interviews to investigate how adolescents experience HAE symptoms and how HAE impacts their HRQoL.
This was a non-interventional, qualitative study of adolescents with HAE. Participants were recruited via a patient advocacy organization and were eligible to take part in this study if they had a confirmed diagnosis of type I or type II HAE and were currently on prophylactic treatment to prevent HAE attacks. All participants completed a one-to-one, 60-minute, remote interview designed to elicit their experiences of HAE. Interview data were coded and analyzed using NVivo qualitative software.
Twelve adolescents took part in this study. HAE attacks were described as painful and uncomfortable. Attacks varied by trigger, frequency, severity, location, and duration. Participants described ways in which HAE impacted their daily lives, including impacts on physical, social, emotional, and cognitive functioning, in addition to sleep disturbance, school-related impacts, and a need to avoid attack triggers. Impacts on emotional and social functioning were particularly noteworthy, as participants reported having to miss or skip social events, and sometimes withdrawing socially. Since initiating prophylaxis, participants reported the frequency, severity, and duration of attacks had been reduced and their HAE-related impacts had been minimized. Participants were satisfied with their current prophylactic and acute treatments, and expressed a preference for treatments that were effective, convenient, self-administered, and had minimal side effects.
Adolescents with HAE reported experiencing a range of symptoms that, when untreated, impacted their HRQoL in ways that are unique from adults. Further, participants reported that effective treatments (prophylactic and acute) inhibited symptoms and HRQoL impacts with minimal treatment burden. Findings from this study suggest that health care providers and clinical investigators should consider the unique HRQoL impacts experienced by adolescents when evaluating treatment benefit.
遗传性血管性水肿（HAE）是一种罕见的常染色体显性疾病，可导致身体各部位出现肿胀发作，进而影响健康相关生活质量（HRQoL）。HAE的症状及其对HRQoL的影响在成年人中已有充分记录；然而，对于青少年患HAE的经历了解相对较少。本研究的目的是通过定性访谈来调查青少年如何体验HAE症状以及HAE如何影响他们的HRQoL。
这是一项针对青少年HAE患者的非干预性定性研究。通过一个患者权益倡导组织招募参与者，若他们被确诊为I型或II型HAE且目前正在接受预防HAE发作的预防性治疗，则有资格参与本研究。所有参与者均完成了一次一对一、时长60分钟的远程访谈，旨在了解他们患HAE的经历。访谈数据使用NVivo定性软件进行编码和分析。
12名青少年参与了本研究。HAE发作被描述为疼痛和不适。发作因触发因素、频率、严重程度、部位和持续时间而异。参与者描述了HAE影响他们日常生活的方式，包括对身体、社交、情感和认知功能的影响，此外还有睡眠障碍、与学校相关的影响以及需要避免发作触发因素。对情感和社交功能的影响尤为值得注意，因为参与者报告不得不错过或跳过社交活动，有时还会在社交上退缩。自开始预防治疗以来，参与者报告发作的频率、严重程度和持续时间有所降低，与HAE相关的影响也已降至最低。参与者对他们目前的预防性和急性治疗感到满意，并表示倾向于选择有效、方便、可自行给药且副作用最小的治疗方法。
患有HAE的青少年报告经历了一系列症状，在未治疗时，这些症状以不同于成年人的方式影响他们的HRQoL。此外，参与者报告称有效的治疗方法（预防性和急性）以最小的治疗负担抑制了症状和对HRQoL的影响。本研究结果表明，医疗保健提供者和临床研究人员在评估治疗益处时应考虑青少年所经历的独特的HRQoL影响。
