Shanghai Health Development Research Center (Shanghai Medical Information Research Center), Shanghai, China.
Shanghai-MOST Key Laboratory of Health and Disease Genomics, NHC Key Laboratory of Reproduction Regulation, Shanghai Institute for Biomedical and Pharmaceutical Technologies, Shanghai, China.
Orphanet J Rare Dis. 2024 Sep 6;19(1):324. doi: 10.1186/s13023-024-03333-4.
Patients with mucopolysaccharidosis (MPS) often face delayed diagnoses, limited treatment options and high healthcare costs, that may significantly affect patients' quality of life. The objective of this study was to understand medical service utilization related to diagnosis and treatment, economic burden during diagnosis period, and health-related quality of life among MPS patients in China.
A series of patients diagnosed with MPS registered in the national patient organization were recruited for a cross-sectional survey from May to July 2019. Information were collected from patients or their parents via phone interview, including demographic data, utilization of services related to diagnosis and treatment, total cost during the period of MPS diagnosis and health-related quality of life (HRQoL). HRQoL was assessed by PedsQL 4.0 Generic Core Scale (PedsQL) and 36-item short-form health survey (SF-36) depending on the age of patients with MPS and compared with the general Chinese population.
A total of 180 MPS patients (50, 67, 15, 46, 1 and 1 for type I, II, III, IV, VI and VII), with a mean age of 9.54 years and 137 (76.11%) males, were included in analysis. The mean age at first visit to a medical doctor for MPS related symptoms was 3.65 ± 2.58 years old, while only 12 patients (6.67%) were diagnosed on their first visit. The mean diagnostic delay, which is defined as the time between the first visit to a medical doctor for MPS related symptoms and the final diagnosis, was 9.42 months, with no significant difference between types. The average number of misdiagnosis was 4.56. Before the confirmed diagnosis, the patients made an average of 6.31 visits and visited 4.3 hospitals. During diagnosis period, the mean of ¥81,086.72 direct medical costs accounted for 63.75% of the total cost. Only 32.78% of the patients had ever received specific treatments. The mean scores of PedsQL and SF-36 of patients were significantly lower than the Chinese norms. Household annual income per person, specific treatment use and MPS subtype were significantly associated HRQoL of patients.
The results highlight challenges faced by MPS patients in terms of diagnosis, access to specific treatments, economic burden and low HRQoL. There is an urgent need to improve early detection and diagnosis, create fair and consistent mechanisms to increase access to specialized treatment and reduce the economic burden of MPS patients in China.
黏多糖贮积症（MPS）患者通常面临诊断延误、治疗选择有限和医疗费用高昂的问题，这可能会对患者的生活质量产生重大影响。本研究旨在了解中国 MPS 患者的诊断和治疗相关医疗服务利用情况、诊断期间的经济负担以及健康相关生活质量（HRQoL）。
2019 年 5 月至 7 月，通过全国患者组织招募了一系列确诊为 MPS 的患者进行横断面调查。通过电话访谈收集患者或其父母的信息，包括人口统计学数据、与诊断和治疗相关的服务利用情况、MPS 诊断期间的总费用以及 HRQoL。根据 MPS 患者的年龄，使用儿童生活质量普适核心量表（PedsQL）4.0 通用核心量表（PedsQL）和 36 项简明健康调查量表（SF-36）评估 HRQoL，并与中国一般人群进行比较。
共纳入 180 例 MPS 患者（1 型、2 型、3 型、4 型、6 型和 7 型各 50、67、15、46、1 和 1 例），平均年龄为 9.54 岁，男性 137 例（76.11%）。MPS 相关症状首次就诊的平均年龄为 3.65±2.58 岁，而仅有 12 例（6.67%）在首次就诊时即被确诊。定义为从 MPS 相关症状首次就诊到最终确诊的平均诊断延迟时间为 9.42 个月，各型之间无显著差异。平均误诊次数为 4.56 次。在确诊之前，患者平均就诊 6.31 次，就诊 4.3 家医院。诊断期间，直接医疗费用为 81086.72 元，占总费用的 63.75%。仅有 32.78%的患者接受过特定治疗。患者的 PedsQL 和 SF-36 平均得分明显低于中国常模。家庭人均年收入、特定治疗的使用情况和 MPS 亚型与患者的 HRQoL 显著相关。
研究结果突出了 MPS 患者在诊断、获得特定治疗、经济负担和 HRQoL 方面面临的挑战。迫切需要改善早期检测和诊断，建立公平一致的机制，增加对专科治疗的可及性，并减轻中国 MPS 患者的经济负担。
