Long-term distress throughout one's life: health-related quality of life, economic and caregiver burden of patients with neurofibromatosis type 1 in China

Abstract

Introduction: Neurofibromatosis type 1 (NF1) is a rare genetic disorder, with lack of evidence of disease burden in China. We aimed to describe the economic burden, health-related quality of life (HRQL), and caregiver burden of NF1 patients in China.

Methods: We conducted an online cross-sectional survey employing the China Cloud Platform for Rare Diseases, with 223 caregivers of NF1 pediatric patients (patients under 18), and 226 adult patients. Economic burden was estimated using direct and indirect costs related to NF1 in 2021, and the Work Productivity and Activity Impairment Questionnaire: General Health V2.0 (WPAI-GH). HRQL measures included EQ-5D-Y proxy version and PedsQL^™ 4.0 Generic Core Scales (PedsQL GCS) proxy version for pediatric patients, and EQ-5D-5L and PedsQL^™ 3.0 Neurofibromatosis Module (PedsQL NFM) for adult patients. Caregiver burden was estimated by Zarit Burden Interview (ZBI).

Results: For pediatric patients, the average direct cost in 2021 was CNY 33,614 (USD 4,879), and employed caregivers' annual productivity loss was 81 days. EQ-5D-Y utility was 0.880 ± 0.13 and VAS score was 75.38 ± 20.67, with 52.6% patients reporting having problems in "pain/discomfort" and 42.9% in "anxiety/depression." PedsQL GCS total score was 68.47 ± 19.42. ZBI score demonstrated that 39.5% of caregivers had moderate-to-severe or severe burden. For adult patients, average direct cost in 2021 was CNY 24,531 (USD 3,560). Patients in employment reported an absenteeism of 8.5% and presenteeism of 21.6% according to the results of WPAI-GH. EQ-5D-5L utility was 0.843 ± 0.17 and VAS score was 72.32 ± 23.49, with more than half of patients reporting having problems in "pain/discomfort" and "anxiety/depression" dimensions. PedsQL NFM total score was 68.40 ± 15.57.

Conclusion: Both pediatric and adult NF1 patients in China had a wide-ranging economic burden and low HRQL, especially in the psychological dimension. Caregivers for NF1 pediatric patients experienced considerable caregiver burden. More attention and support from policymakers and stakeholders are required to relieve NF1 patients' and caregivers' distress.

Keywords: EQ-5D; caregiver burden; economic burden; health-related quality of life; neurofibromatosis type 1.

Figure 1

Histogram of NF1-related overall direct costs in 2021 (CNY). Only patients with actual expenses were calculated. (A) Overall direct costs of NF1 pediatric patients (n = 152, mean = 33,614, range 30 to 390,000); (B) Overall direct costs of NF1 adult patients (n = 107, mean = 24,531, range 10 to 435,000). NF1, neurofibromatosis type 1.

Figure 2

Work productivity and activity impairment for NF1 adult patients based on the WPAI-GH. Absenteeism, presenteeism, and work productivity loss were only assessed among the adult patients who were employed and working in the 7 days prior to answering the questionnaire. Activity impairment was assessed among all adult patients. NF1, neurofibromatosis type 1.

Figure 3

Percentage of NF1 pediatric patients reported problems in different dimensions of EQ-5D-Y by age group. EQ-5D-Y was only for NF1 pediatric patients aged between 4 and 18 (n = 154). NF1, neurofibromatosis type 1.

Figure 4

HRQL and caregiver burden of NF1 pediatric patients (shown in A–C). HRQL, health-related quality of life; NF1, neurofibromatosis type 1.

Figure 5

The 100% stacked bar charts show the distributions at caregiver burden levels by age groups according to the ZBI total score (n = 223). NF1, neurofibromatosis type 1; ZBI, Zarit Burden Interview.