Quality of life and its contributors among adults with late-onset Pompe disease in China

Orphanet Journal of Rare Diseases

Jingxuan Wang¹  Roger Yat-Nork Chung²  Dong Dong³  Jianfeng Zhu⁴  Shanquan Chen⁵ 

[1] JC School of Public Health and Primary Care, Faculty of Medicine, 4/F School of Public Health, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR, China;JC School of Public Health and Primary Care, Faculty of Medicine, 4/F School of Public Health, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR, China;CUHK Institute of Health Equity, The Chinese University of Hong Kong, Hong Kong SAR, China;JC School of Public Health and Primary Care, Faculty of Medicine, 4/F School of Public Health, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong SAR, China;Shenzhen Research Institute, The Chinese University of Hong Kong, Shenzhen, Guangdong, China;School of Social Development and Public Policy, Fudan University, Shanghai, China;The School of Clinical Medicine, University of Cambridge, Cambridge, UK;

关键词: Quality of life;    Pompe disease;    Rare disease;    Cross-sectional survey;    China;   

DOI  :  10.1186/s13023-021-01836-y

来源: Springer

【 摘 要 】

BackgroundPompe disease (PD) is a rare inherited disorder caused by the deficiency of acid-α glucosidase, which leads to the impairment of organ and tissue functions and causes disabilities. As the first national survey on patients with late-onset PD (LOPD) in China, this study investigated the quality of life (QOL) of adult patients with LOPD in China and explored its contributors.MethodsData were derived from a nation-based, cross-sectional, self-response survey on rare diseases (RDs) in early 2018. Answers from 68 adult Chinese patients with LOPD were used for data analysis. QOL was measured using the World Health Organization Quality of Life: Brief Version. Covariates included age, gender, education, employment, reliance on assistive devices, medication history, social support, and disease economic burden. Data were analyzed using linear regression in R.ResultsFor adult patients with LOPD, the average scores and standard deviations (SD) of the four dimensions of QOL were physical health = 33.77 (SD = 18.28), psychological health = 43.81 (SD = 21.70), environmental health = 39.43 (SD = 16.93), and social relationship = 46.20 (SD = 19.76); the scoring for each dimension was evaluated on a scale of 0 to 100. At the significance level of p < 0.05, with increasing age, the patients experienced a significant decrease in physical health QOL (β = − 0.75) and environmental health QOL (β = − 0.79). Those who relied heavily on assistive devices had lower perceived physical health (β = − 17.8), psychological health (β = − 22.76), environmental health (β = − 17.8), and social relationships (β = − 22.12) than those who did not. A one-unit increase in the amount of social support, as a form of social interaction, led to a significant increase in physical health (β = 0.28), psychological health (β = 0.71), environmental health (β = 0.72), and social relationships (β = 0.70).ConclusionAdult Chinese patients with LOPD had a lower physical health and QOL compared to their counterparts with other RDs. Being employed was found to affect the QOL of adult Chinese patients with LOPD in almost all dimensions. Encouraging adult Chinese patients with LOPD to be socially active and help them become more involved in social life might improve their QOL.

【 授权许可】

CC BY