Economic burden and health related quality of life of ultra-rare Gaucher disease in China

Abstract

Background The diagnosis and health care of patients with rare diseases present a tremendous challenge worldwide. This study described the health care service utilization through participants’ perspective and estimated the cost of illness (COI), and patients with Gaucher disease (GD)’s/caregivers’ health-related quality of life in China. Method An online retrospective survey of patients with GD and their caregivers was conducted during May–June 2018. Socio-demographic, health service utilization, disease-related expenses, social support, sleep quality (Pittsburgh Sleep Quality Index [PSQI]), and the Short Form Health Survey (SF-36) were investigated. Using self-reported information, we estimated the annual COI, including direct healthcare, direct non-healthcare, and indirect costs. Results Forty patients and their 49 caregivers were surveyed. The patients’ onset age of GD was 9.3 ± 10.9; their disease course was 3.5 ± 3.1 years. 21 (42.9%) patients had ≥ 2 caregivers, but 35 (71.4%) caregivers reported have no experience as a caregiver. 79.6% caregivers have stopped working, and 87.8% changed weekly working schedule. Before final diagnosis, patients visited 3.9 ± 3.1 (max = 20) hospitals and took 1.2 ± 1.7 (max = 6.6) years for confirmed diagnosis. On average, 5.0 ± 9.6 misdiagnoses occurred, and the per-patient diagnoses cost was USD ($) 7576. After GD confirmation, 8 (16.3%) patients received no treatment, 40 (81.6%) received pharmacotherapy, 10 (20.4%) received surgery, 38 (77.6%) received outpatient service (8.8 ± 9.1 times/annually), and 37 (77.5%) received inpatient service (4.0 ± 3.5 times/annually). Annual per-patient COI was USD ($) 49,925 (95% confidence interval: 29,178, 70,672). Average direct healthcare cost was $41,816, including pharmaceutical ($29,908), inpatient ($7,451), and outpatient ($1,838). Productivity loss per-caregiver was $1,980, and their Zarit Burden Inventory score was moderate-severe (48.6 ± 19.6). Both patients/caregivers reported lower social support (32.4 ± 7.4, 34.9 ± 7.6), two times higher PSQI (7.9 ± 2.9, 8.7 ± 3.6), and half lower SF-36 (41.3 ± 18.6, 46.5 ± 19.3) than those reported for healthy Chinese individuals. Conclusions The high misdiagnosis rate, together with delayed diagnosis, substantial costs, and deteriorated health-related quality of life of GD patients as well as their heavy care burden, calls for extreme attention from policymakers in China. Further efforts of government and society are urgently demanded, including pharmaceutical reimbursement, screening newborns, developing precise diagnostic tools, and training doctors.

Australian children living with rare diseases: health service use and barriers to accessing care

“…A minimum estimate of the total cost for admissions and ED presentations in 286 children who used these services was AU$9 million (US$6.30 million), with an average annual cost of approximately AU$31,000 (US$21,500) per child. These findings corroborate previous reports of high health service costs for children with rare diseases [ 5 , 19 , 20 , 24 , 25 ].…”

Evaluating the national system for rare diseases in China from the point of drug access: progress and challenges

“…The establishment of the collaboration network is a good demonstration, but the specific resource scheduling of the huge collaboration network still needs to be considered. Doctors' professionalism of rare diseases also needs to be enhanced, especially in primary institutions [ 37 , 38 ]. At present, online multi-disciplinary team for rare diseases with primary institutions is a referable approach, but it’s not a fundamental solution [ 10 ].…”

Perception of Social and Educational Quality of Life of Minors Diagnosed with Rare Diseases: A Systematic Review and Meta-Analysis

“…These results indicate that the existence of moderating variables is highly probable, which makes it necessary to carry out meta-regressions and model comparison studies [9]. [16][17][18][19][20][21][22]. Note: Each sample represented on the right-side effect size (lower limit, upper limit).…”

“…The sample consisted of a total of 1943 participants distributed in k = 40 samples, in 7 studies [16][17][18][19][20][21][22], of whom 687 were girls, 615 were boys and 641 did not report their sex, with a mean age of 9.42 years. With respect to the geographical distribution, one of the samples was Asian (China), two were European and North American Anglo-Saxon populations (UK, US, Ireland and Canada), and the remaining 37 were European samples (France, Germany, UK, Ireland, Italy and Norway) (see Table 1).…”