OBJECTIVES: Gaucher disease is often associated with high treatment expenses but low health-related quality of life (HRQoL). Yet few studies comprehensively assessed the gender-specific HRQoL among child patients. This study aimed to assess the caregiver-proxy HRQoL on children patients with Gaucher disease, and explore the gender differences in the 5 domains of HRQoL.

METHODS: Participants were recruited from the China Gaucher Disease Association, a national NGO formed by Gaucher patients and their families. People taking care of children aged 5-18 years old were eligible for this study. HRQoL was measured by EuroQoL Five-Dimension Questionnaire (EQ-5D) containing Mobility, Self-Care, Usual Activities, Pain/Discomfort, and Anxiety/Depression of the patients. Descriptive analyses of each domain were performed with STATA 14.0.

RESULTS: Among the 52 male patients and 26 female patients, over 70.5% (55 subjects) were reported as ‘suffering Pain/Discomfort’. 43 subjects (55.1%) reported ‘some or extreme problems’ with the patients’ usual activities. 36 (46.2%) subjects reported ‘moderately or extremely Anxiety/Depression’ of their kids. 35 subjects (44.8%) reported ‘some or extreme problems with the patients’ Self-Care ability’. Although male and female patients on average had similar EQ-5D utility scores, gender differences were observed in Mobility, Self-Care, Usual Activities, and Anxiety/Depression domains. Comparing to female child patients, males had a significantly higher change of having problems in Usual Activities (male: 59.6% vs. female: 46.2%, p<0.05) and Anxiety/Depression conditions (57.7% vs 45.2%, p<0.05), yet better Self-Care Ability (42.2% males had problems vs 49.9% females, p<0.05).

CONCLUSIONS: The high proportion of child patients with problems in self-care, mobility, usual activities and mental health status implied huge physical and psychological burdens of patients’ caregivers. Comparing the situation between genders, male patients’ usual activities and depression/anxiety conditions, as well as female patients’ self-care ability, need to be further attended.