Centre for Evidence-Based Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China.
International Institute of Evidence-Based Traditional Chinese Medicine, School of Traditional Chinese Medicine, Beijing University of Chinese Medicine, Beijing, China.
Front Public Health. 2024 Aug 21;12:1398803. doi: 10.3389/fpubh.2024.1398803. eCollection 2024.
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.
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).
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.
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.
神经纤维瘤病 1 型（NF1）是一种罕见的遗传疾病，中国缺乏疾病负担的证据。我们旨在描述 NF1 患者在中国的经济负担、健康相关生活质量（HRQL）和照顾者负担。
我们在中国云罕见病平台上进行了一项在线横断面调查，共有 223 名 NF1 儿科患者（18 岁以下）的照顾者和 226 名成年患者参与。2021 年，我们采用与 NF1 相关的直接和间接成本来估算经济负担，并采用工作生产力和活动障碍问卷：一般健康 V2.0（WPAI-GH）进行估算。HRQL 测量包括儿科患者的 EQ-5D-Y 代理版本和 PedsQL 4.0 通用核心量表（PedsQL GCS）代理版本，以及成年患者的 EQ-5D-5L 和 PedsQL 3.0 神经纤维瘤模块（PedsQL NFM）。照顾者负担通过 Zarit 负担访谈（ZBI）进行评估。
对于儿科患者，2021 年的平均直接成本为 33,614 元人民币（4,879 美元），有薪照顾者的年生产力损失为 81 天。EQ-5D-Y 效用为 0.880±0.13，VAS 评分为 75.38±20.67，52.6%的患者报告在“疼痛/不适”方面存在问题，42.9%的患者在“焦虑/抑郁”方面存在问题。PedsQL GCS 总分为 68.47±19.42。ZBI 评分显示，39.5%的照顾者存在中度至重度或重度负担。对于成年患者，2021 年的平均直接成本为 24,531 元人民币（3,560 美元）。根据 WPAI-GH 的结果，就业患者报告缺勤率为 8.5%，工作参与率为 21.6%。EQ-5D-5L 效用为 0.843±0.17，VAS 评分为 72.32±23.49，超过一半的患者报告在“疼痛/不适”和“焦虑/抑郁”维度存在问题。PedsQL NFM 总分为 68.40±15.57。
中国的儿科和成年 NF1 患者均存在广泛的经济负担和较低的 HRQL，尤其是在心理维度。NF1 儿科患者的照顾者经历了相当大的照顾者负担。需要政策制定者和利益相关者给予更多关注和支持，以减轻 NF1 患者及其照顾者的痛苦。
