背景:法布里病(FD)是一种罕见的溶酶体贮积病,与影响多个生理系统的糖脂积累有关。我们进行了系统的文献综述(SLR)来描述FD的人文(生活质量[QoL])和经济负担。
方法:在Embase中进行搜索,MEDLINE®,和MEDLINE®在过程数据库从开始到2022年1月19日。手动搜索指定大会的会议摘要。在Cochrane和ProQuest数据库中进行了人文SLR的搜索,并在国家卫生服务经济评估数据库中进行了经济SLR的搜索。对任何性别FD患者的研究,种族,和年龄,并以英语出版。对干预或比较没有限制。对于人性化的单反,报告效用数据的研究,基于数据库/注册表的研究,问卷/调查,纳入了队列研究。对于经济SLR,纳入了报告经济评估或评估疾病和资源使用成本的研究。
结果:在人文搜索中确定的1363条记录中,共纳入36项研究。最常用的QoL评估是36项短期健康调查(n=16),EQ-5D问卷描述系统或视觉模拟量表(n=9),和简要疼痛清单(n=8)。据报道,与多个领域的健康人群相比,FD患者的QoL降低。包括疼痛,身体机能,和抑郁症状。多个变量包括性别,年龄,疾病严重程度,和治疗状态影响的QoL。在经济负担搜索中确定的711条记录中,共纳入18项研究。FD与高成本和医疗保健资源使用有关。成本负担的贡献者包括酶替代疗法,healthcare,和社会关怀。在报告健康效用值的七项研究中,较低的效用评分通常与更多的并发症相关(包括心脏,肾,和脑血管疾病)以及男性的经典疾病。
结论:FD仍然与高成本和医疗保健资源使用负担有关,与健康人群相比,QoL降低。整合QoL和经济评估的信息可能有助于确定对FD患者最有价值的干预措施。
BACKGROUND: Fabry disease (FD) is a rare lysosomal storage disease associated with glycolipid accumulation that impacts multiple physiological systems. We conducted a systematic literature review (SLR) to characterize the humanistic (quality of life [QoL]) and economic burden of FD.
METHODS: Searches were conducted in the Embase, MEDLINE®, and MEDLINE® In-Process databases from inception to January 19, 2022. Conference abstracts of specified congresses were manually searched. Additional searches were performed in the Cochrane and ProQuest databases for the humanistic SLR and the National Health Service Economic Evaluations Database for the economic SLR. Studies of patients with FD of any sex, race, and age, and published in the English language were included. There was no restriction on intervention or comparator. For the humanistic SLR, studies that reported utility data, database/registry-based studies, questionnaires/surveys, and cohort studies were included. For the economic SLR, studies reporting economic evaluations or assessing the cost of illness and resource use were included.
RESULTS: Of the 1363 records identified in the humanistic search, 36 studies were included. The most commonly used QoL assessments were the 36-item Short-Form Health Survey (n = 16), EQ-5D questionnaire descriptive system or visual analog scale (n = 9), and the Brief Pain Inventory (n = 8). Reduced QoL was reported in patients with FD compared with healthy populations across multiple domains, including pain, physical functioning, and depressive symptoms. Multiple variables-including sex, age, disease severity, and treatment status-impacted QoL. Of the 711 records identified in the economic burden search, 18 studies were included. FD was associated with high cost and healthcare resource use. Contributors to the cost burden included enzyme replacement therapy, healthcare, and social care. In the seven studies that reported health utility values, lower utility scores were generally associated with more complications (including cardiac, renal, and cerebrovascular morbidities) and with classical disease in males.
CONCLUSIONS: FD remains associated with a high cost and healthcare resource use burden, and reduced QoL compared with healthy populations. Integrating information from QoL and economic assessments may help to identify interventions that are likely to be of most value to patients with FD.