Analysis of the Situation of Unmet Health Care Need Among Extremely Rare Disease of Gaucher

Abstract

BackgroundThe diagnosis and health care of patients with rare diseases present a tremendous challenge worldwide. This study estimated the health service utilization, cost of illness, and patients with Gaucher disease (GD)’s/caregivers’ health-related quality of life in China.MethodAn 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 cost of illness, including direct medical, direct non-medical, and indirect medical costs. ResultsForty 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 ($) 7,576. After GD confirmation, 8 (16.3%) patients received no treatment, 40 (81.6%) received pharmacotherapy, 10 (20.4%) received surgery, 38 (77.6%) received outpatient service (8.8±9.1 times/annually), and 37 (77.5%) received inpatient service (4.0±3.5 times/annually). Annual per-patient cost was USD ($) 49,925 (95% confidence interval: 29,178, 70,672). Average direct medical 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.ConclusionThis study finds out that fill the unmet need for extremely rare diseases is very challenging. 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.