OBJECTIVES :

Pompe disease (PD) is a rare inherited disorder caused by deficiency of acid-ɑ glucosidase, which impairs organ and tissue functions and causes disabilities. As the first national survey on PD patients in China, this study investigates the quality of life (QOL) of adult PD patients and explores its contributors.

METHODS

Data are derived from a nation-based, cross-sectional, self-response survey on rare diseases conducted in 2018. Answers from 68 adult PD patients were used for data analysis. QOL was measured by WHOQOL-BREF. Covariates include age, gender, education, employment, reliance on assistive devices, medicine history, social support (measured by MOS-SSS-CM), and disease economic burden (measured by catastrophic health expenditure, CHE). Data were analyzed in R with a bootstrapped structural equation model.

RESULTS

Average scores (total=100) of the four dimensions of QOL are: physical health (x̄=33.77, SD=18.28), psychological health (x̄=43.81, SD=21.70), environment (x̄=39.43, SD=16.93), and social relationship (x̄=46.20, SD=19.76). As the patients grow older, there is a significant decrease in their physical health QOL (β=-0.59, p < 0.01) and environmental health QOL (β=-0.30, p < 0.1). For those relying heavily on assistive devices, perceived physical health QOL is significantly lower than for those who do not (β =-19.4, p<0.1). One unit increase in the accompanies a significant increase in physical (β=0.29, p<0.01), environment (β=0.37, p<0.1), and social relationships (β =0.49, p<0.05). One unit increase in the number of people available to provide mental distraction will lead toward a significant increase in social relationships (β =0.51, p<0.1).

CONCLUSIONS :

Chinese PD patients’ average QOL is very low. Social interaction is found to play an important role in affecting PD patients’ QOL in almost all dimensions. Encouraging PD patients to be socially active and helping them remain involved in social life might be important steps in improving their QOL.