Schoser Benedikt, Bilder Deborah A, Dimmock David, Gupta Digant, James Emma S, Prasad Suyash
Friedrich-Baur-Institut, Neurologische Klinik und Poliklinik, Klinikum der Universität München, Ludwig-Maximilians-Universität München, Ziemssenstr, D-80336, Munich, Germany.
Department of Psychiatry, Division of Child and Adolescent Psychiatry, University of Utah School of Medicine, Salt Lake City, UT, USA.
BMC Neurol. 2017 Nov 22;17(1):202. doi: 10.1186/s12883-017-0983-2.
Humanistic burden considers the impact of an illness on a patient's health-related quality of life (HRQoL), activities of daily living (ADL), caregiver health, and caregiver QoL. Humanistic burden also considers treatment satisfaction and adherence to treatment regimens. Pompe disease is an autosomal recessive, progressive, multisystemic neuromuscular disease. Approval of enzyme-replacement therapy (ERT) markedly improved prognosis for patients, but considerable morbidity and a substantial humanistic burden remain. This article characterizes the humanistic burden of Pompe disease through a systematic literature review.
A systematic search of MEDLINE® and Embase® with back-referencing and supplementary literature searches was performed to retrieve data from interventional and non-interventional studies on the humanistic burden of Pompe disease. Publications were screened according to predefined criteria, extracted, and assessed for quality. Extracted data were narratively synthesized.
No publications on the humanistic burden of infantile-onset Pompe disease (IOPD) were identified. As such, of 17 publications included here, all are in patients with late-onset Pompe disease (LOPD). Thirteen publications were initiated after approval of ERT, two were initiated before, and two overlapped the approval of ERT. The review shows that LOPD patients have a significantly lower HRQoL than the general population, even if treated with ERT. On transitioning to ERT, treatment was associated with improvement in the physical component score of the SF-36 and fatigue, although the SF-36 mental component score remained stable. Physical HRQoL remained below population norms after 4 years of ERT. Significantly more ERT-treated patients reported pain than controls, and bodily pain worsened in later years following ERT initiation. Treatment-naïve LOPD patients had significantly poorer ADL functioning compared with the general population, although ERT stabilized deteriorating functioning impairment. ERT studies showed caregivers provide 17.7 h/week informal care on average. Fifty percent, 40% and <20% of caregivers reported mental health, physical health, and financial/relational problems, respectively. In ERT-naïve patients, wheelchair use and home ventilatory support was associated with lower physical HRQoL and ADL functioning. In ERT-treated patients, key factors predicting worse HRQoL and ADL functioning were higher respiratory distress, poorer sleep quality, greater pain, and more fatigue.
Pompe disease has a substantial humanistic burden, with strong inter-relationships among and between humanistic burden parameters and clinical progression.
人文负担考量疾病对患者健康相关生活质量（HRQoL）、日常生活活动（ADL）、照料者健康及照料者生活质量的影响。人文负担还考量治疗满意度及对治疗方案的依从性。庞贝病是一种常染色体隐性、进行性、多系统神经肌肉疾病。酶替代疗法（ERT）的获批显著改善了患者预后，但仍存在相当程度的发病率及巨大的人文负担。本文通过系统文献综述对庞贝病的人文负担进行了描述。
对MEDLINE®和Embase®进行系统检索，并进行回溯检索及补充文献检索，以从关于庞贝病人文负担的干预性和非干预性研究中获取数据。根据预定义标准对出版物进行筛选、提取并评估质量。对提取的数据进行叙述性综合分析。
未检索到关于婴儿型庞贝病（IOPD）人文负担的出版物。因此，在此纳入的17篇出版物均为晚发型庞贝病（LOPD）患者的研究。13篇出版物在ERT获批后开展，2篇在获批前开展，2篇与ERT获批时间重叠。该综述表明，即使接受ERT治疗，LOPD患者的HRQoL仍显著低于一般人群。在开始ERT治疗后，治疗与SF-36身体成分评分及疲劳状况的改善相关，尽管SF-36心理成分评分保持稳定。ERT治疗4年后，身体HRQoL仍低于人群标准。与对照组相比，接受ERT治疗的患者报告疼痛的比例显著更高，且在开始ERT治疗后的数年中身体疼痛加剧。未经治疗的LOPD患者的ADL功能与一般人群相比显著更差，尽管ERT稳定了逐渐恶化的功能损害。ERT研究表明，照料者平均每周提供17.7小时的非正式照料。分别有50%、40%和不到20%的照料者报告存在心理健康、身体健康及经济/人际关系问题。在未经ERT治疗的患者中，使用轮椅和家庭通气支持与较低的身体HRQoL及ADL功能相关。在接受ERT治疗的患者中，预测HRQoL和ADL功能较差的关键因素包括更高的呼吸窘迫、更差的睡眠质量、更严重的疼痛及更多的疲劳。
庞贝病存在巨大的人文负担，人文负担参数与临床进展之间存在密切的相互关系。
