Pharming Group N.V, Leiden, The Netherlands.
Acaster Lloyd Consulting Ltd, London, UK.
Orphanet J Rare Dis. 2024 May 18;19(1):203. doi: 10.1186/s13023-024-03215-9.
Activated phosphoinositide 3-kinase delta syndrome (APDS) is an ultra-rare primary immunodeficiency, with only 256 cases reported globally. This study aimed to explore the disease burden of APDS from the perspective of individuals with APDS and their caregivers.
Qualitative interviews were conducted with healthcare providers (HCPs), individuals with APDS and caregivers, to explore the symptoms and health-related quality of life (HRQoL) impact of APDS. Some individuals and caregivers also completed a narrative account exercise. All interviews were audio recorded and transcribed. Data were analysed using thematic analysis and saturation was recorded.
Semi-structured qualitative interviews were conducted with healthcare providers (HCPs), individuals with APDS and caregivers. Individuals and caregivers had the option of completing a narrative account exercise. Six HCPs participated in an interview. Seven participants completed the narrative account exercise (N = 5 caregivers and N = 2 individuals with APDS) and 12 took part in an interview (N = 4 caregivers and N = 8 individuals with APDS). Themes identified from HCPs interviews included symptoms, clinical manifestations, HRQoL impacts and treatments/management of APDS. The narrative account exercise identified similar themes, but with the addition to the journey to diagnosis. These themes were explored during the individual/caregiver interviews. Reported clinical manifestations and symptoms of APDS included susceptibility to infections, lymphoproliferation, gastrointestinal (GI) disorders, fatigue, bodily pain, and breathing difficulties. HRQoL impacts of living with APDS included negative impacts to daily activities, including work, education and social and leisure activities, physical functioning, as well as emotional well-being, such as concern for the future, and interpersonal relationships. Impacts to caregiver HRQoL included negative impacts to physical health, work, emotional well-being, interpersonal relationships and family life and holidays. The management of APDS included the use of healthcare services and medications including immunoglobulin replacement therapy (IRT), rapamycin, prophylactic antibiotics, leniolisib, as well as medical procedures due to complications.
APDS has a high disease burden and there is an unmet need for licensed, more targeted treatments which modify disease progression. This study was the first to describe the day-to-day experience and HRQoL impact of APDS from the perspective of individuals living with the condition, caregivers and treating physicians.
活化的磷酯酰肌醇 3-激酶 δ 综合征（APDS）是一种极其罕见的原发性免疫缺陷病，全球仅有 256 例报告。本研究旨在从 APDS 患者及其照护者的角度探讨 APDS 的疾病负担。
对医疗保健提供者（HCPs）、APDS 患者及其照护者进行定性访谈，以探讨 APDS 的症状和健康相关生活质量（HRQoL）的影响。一些患者和照护者还完成了叙事性叙述练习。所有访谈均进行了录音和转录。使用主题分析进行数据分析，并记录了饱和度。
对医疗保健提供者（HCPs）、APDS 患者及其照护者进行了半结构式定性访谈。患者和照护者可选择完成叙事性叙述练习。6 名 HCPs 参加了访谈。7 名参与者完成了叙事性叙述练习（5 名照护者和 2 名 APDS 患者），12 名参与者参加了访谈（4 名照护者和 8 名 APDS 患者）。HCPs 访谈中确定的主题包括 APDS 的症状、临床表现、HRQoL 影响和治疗/管理。叙事性叙述练习确定了类似的主题，但增加了诊断过程。这些主题在患者/照护者访谈中进行了探讨。报告的 APDS 临床表现和症状包括易感染、淋巴增生、胃肠道（GI）疾病、疲劳、身体疼痛和呼吸困难。患有 APDS 对生活的 HRQoL 影响包括对日常活动（包括工作、教育和社会及休闲活动）、身体机能以及情绪健康（如对未来的担忧和人际关系）的负面影响。对照护者 HRQoL 的影响包括对身体健康、工作、情绪健康、人际关系和家庭生活和假期的负面影响。APDS 的管理包括使用医疗保健服务和药物，包括免疫球蛋白替代疗法（IRT）、雷帕霉素、预防性抗生素、leniolisib 以及由于并发症而进行的医疗程序。
APDS 的疾病负担很高，迫切需要获得许可的、更有针对性的治疗方法，以改变疾病的进展。本研究首次从患有该疾病的患者、照护者和治疗医生的角度描述了 APDS 的日常体验和 HRQoL 影响。
