■系统回顾文献并总结接受粘多糖(MPS)治疗的患者的健康相关生活质量(HRQoL),一种罕见的,遗传性溶酶体贮积症。
■根据PRISMA指南进行了系统评价,以确定描述MPS人文负担的研究。在EMBASE中进行了全面的文献检索,MEDLINE,对符合条件的会议进行了筛选,以包括适用的摘要。
■在870个确定的文章中,15项研究报告了MPS患者或有ERT和/或HSCT病史的HRQoL负担。这些研究包括MPSI患者(n=2),MPSII(n=4),MPSIV(n=6),MPSVI(n=1),和未提及的亚型(n=2)。尽管MPS患者的生活质量受诊断时间的影响,疼痛,认知参与,疾病的严重程度,移动性,依赖性和治疗开始时间,MPS患者所有量表的HRQoL评分均低于所有维度的中位参考人群评分.与健康参与者相比,也可以与其他慢性病患者相比。多器官参与,神经损伤,疼痛,与这种情况相关的发病率不仅影响日常生活活动,而且影响社会功能,情绪状态,成年人的就业状况,和儿童的学校功能。
■这项系统的文献综述揭示了受MPS影响的个体以及护理人员的巨大人文负担。观察到HRQoL评分的显着变化,然而,研究表明,MPS患者的生活质量主要受疾病严重程度(MPS类型和表型)的影响,然后在诊断时,疼痛,认知参与,移动性,依赖性和治疗开始时间。需要进一步的研究来评估MPS的全球人文负担,特别是在MPSIII中,VI,VII,和IX亚型,在成年人中,以及更长的随访期。考虑到本研究中可用和使用的大量HRQoL评估工具,研究人员还应考虑使用具有特定条件措施的量表,以确保对有效性的适当估计。
To systematically review the literature and summarize the health-related quality-of-life (HRQoL) of patients undergoing treatment for mucopolysaccharidoses (MPS), a rare, hereditary lysosomal storage disorder.
A systematic review was performed in accordance with PRISMA guidelines to identify research studies that describe the humanistic burden of MPS. A comprehensive literature search was conducted in EMBASE, MEDLINE, and eligible conferences were screened to include applicable abstracts.
Of 870 identified articles, 15 studies reported the HRQoL burden of patients with MPS undergoing or with a history of ERT and/or HSCT. These studies include patients of MPS I (n = 2), MPS II (n = 4), MPS IV (n = 6), MPS VI (n = 1), and subtype not mentioned (n = 2). Although the quality-of-life of MPS patients is influenced by time of diagnosis, pain, cognitive involvement, severity of disease, mobility, dependence, and time of treatment initiation, the HRQoL scores of MPS patients across all the scales were below the median reference population scores across all dimensions. This is seen in comparison to healthy participants but also in comparison to patients with other chronic illnesses. The multi-organ involvement, neurological impairment, pain, and morbidity associated with the condition not only affects activity of daily living but also affects social functioning, emotional status, employment status among adults, and school functioning among children.
This systematic literature review revealed the substantial humanistic burden of individuals affected by MPS as well as caregivers. Significant variation in HRQoL scores was observed, however studies indicate that the quality-of-life of MPS patients is influenced primarily by severity of disease (MPS type and phenotype), and then by time of diagnosis, pain, cognitive involvement, mobility, dependence, and time of treatment initiation. Further studies are needed to assess the global humanistic burden of MPS, particularly in MPS III, VI, VII, and IX subtypes, in adults, and for a longer follow-up period. Considering the vast array of HRQoL assessment tools available and used in this study, researchers should also consider using scales with condition-specific measures to ensure appropriate estimates of effectiveness.