Abstract

Objectives

This study aimed to measure the economic burden and health-related quality of life (HRQoL) of children with achondroplasia in China.

Methods

A cross-sectional survey was conducted at the 2021 Chinese Achondroplasia Patients Conference using a standardized questionnaire. Data collected included demographic characteristics, treatment history, direct and indirect costs during 2020, and HRQoL outcomes. HRQoL was measured using the Pediatric Quality-of-Life Inventory 4.0 and the EuroQoL 5 Dimensions Youth version.

Results

A total of 259 patients were included. The mean direct, indirect, and total costs per patient were RMB 39 928 (SD = 27 571), RMB 17 941 (SD = 18 252), and RMB 57 870 (SD = 35 375), respectively. Nonmedical direct costs accounted for more than 70% of direct costs. Use of Calcitriol and presence of complications significantly increased the economic burden. Multivariate analysis identified treatment (β = 19083) and craniocervical junction malformation (β = 23817) as predictors of increased total cost. Regarding HRQoL, mean Pediatric Quality-of-Life Inventory 4.0 scores were below 50 in both self- and proxy reports. EuroQoL-Visual Analog Scale scores averaged 57.25 (SD = 21.34). Regression analysis showed that complications, body mass index differences, and lower income were associated with poorer HRQoL outcomes.

Conclusions

Achondroplasia imposes a substantial economic and quality-of-life burden on affected families in China. Direct nonmedical and indirect costs, often overlooked, represent significant components of this burden. Effective management of complications and policy support for caregiving and nonmedical expenditures may alleviate this impact.