中国阿拉杰里综合征患者胆汁淤积性瘙痒的疾病负担OA

Objective The aim of this study was to assess the disease burden of cholestatic pruritus in Chinese Alagille syndrome patients,including its impact on their quality of life,mental health,and utilization of healthcare resources.Methods We conducted questionnaires and collected 276 responses from patients who participated in the patient household survey conducted by CORD.We further conducted an in-depth investigation and analysis of the disease-related economic expenses of 70 patients.Results There was no significant gender difference in ALGS patients,and the overall age was low.77.5%of the patients had a body weight of 0～20 kg,and the overall body weight was low.48.2%of the patients were rural registered,75.7%were preschool children,62.0%had a family size of more than 3 people,and 38.4%of the patients said that the disease caused varying degrees of trouble to their schooling.More than 50.0%of the patients had developmental delays,skin itching,special features,jaundice and heart abnormalities.92.8%of the patients were referred for more than one time,56.9%were misdiagnosed,5.4%of the patients were caused by gene mutation,and genetic testing was needed to confirm the diagnosis.41.1%of the patients had itching symptoms within 6 months after birth;Pain and discomfort caused by ALGS have the greatest impact on patients;Forty-nine percent of the patients had varying degrees of depression,34.8%had varying degrees of anxiety,and 46.6%said that the disease brought varying degrees of stress.Through the economic burden survey of 70 patients,it was found that the annual income of the patients'families in the past year was 94 100 yuan,while the direct cost of ALGS treatment was 75 922 yuan and the indirect cost was 8 078 yuan.Conclusion ALGS patients bear a significant disease burden related to cholestatic pruritus,with considerable unmet clinical needs.There is a requirement for increased awareness of rare diseases,and further research is needed to explore interventions aimed at improving liver function,delaying liver transplantation,and alleviating itching symptoms.These efforts will contribute to reducing the burden faced by these patients and their families.