背景:粘多糖贮积症(MPS)患者通常面临延迟诊断,有限的治疗选择和高昂的医疗费用,这可能会显著影响患者的生活质量。这项研究的目的是了解与诊断和治疗相关的医疗服务利用情况,诊断期间的经济负担,中国MPS患者的健康相关生活质量。
方法:从2019年5月至7月招募了一系列在国家患者组织注册的诊断为MPS的患者进行横断面调查。通过电话采访从患者或其父母那里收集信息,包括人口统计数据,利用与诊断和治疗有关的服务,MPS诊断期间的总费用和健康相关生活质量(HRQoL)。根据MPS患者的年龄,通过PedsQL4.0通用核心量表(PedsQL)和36项简短健康调查(SF-36)评估HRQoL,并与中国普通人群进行比较。
结果:总共180名MPS患者(I型为50、67、15、46、1和1,II,III,IV,VI和VII),平均年龄9.54岁,男性137人(76.11%),包括在分析中。因MPS相关症状首次就诊医生的平均年龄为3.65±2.58岁,而首次就诊时确诊的患者只有12例(6.67%)。平均诊断延迟,这被定义为从第一次去看医生的MPS相关症状到最终诊断之间的时间,是9.42个月,类型之间没有显著差异。平均误诊为4.56例。在确诊之前,患者平均访问6.31次,访问了4.3家医院。诊断期间,平均81,086.72日元的直接医疗费用占总费用的63.75%。只有32.78%的患者曾经接受过特定的治疗。患者的PedsQL和SF-36平均得分明显低于中国标准。家庭人均年收入,特定治疗的使用和MPS亚型与患者的HRQoL显著相关.
结论:结果突出了MPS患者在诊断方面面临的挑战,获得特定治疗,经济负担和较低的HRQoL。迫切需要改进早期发现和诊断,建立公平和一致的机制,以增加获得专门治疗的机会,减轻中国MPS患者的经济负担。
BACKGROUND: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.