Measurement of Health-Related Quality of Life in Adult Patients with Rare disease: Based on the Chinese Value Set EQ-5D-5L

Abstract

Background Rare disease is a general term for a class of diseases with low incidence rate/prevalence. About 10% of the world's people are affected by rare disease, and China has about 20 million patients with rare disease. Patients with Rare disease usually face difficulties in diagnosis, no effective treatment, heavy medical burden and low quality of life. These difficulties may be more prominent in Chinese Mainland, where rare disease policy started late. This paper used EQ-5D-5L to investigate the health-related quality of life (HRQoL) of patients with rare disease in Foshan City, Guangdong Province, the pilot area for the development of policies on rare disease in China, and explored its predictive factors. Methods From March 2022 to June 2022, rare disease organized The Illness Challenge Foundation to recruit patients with rare disease in Foshan City, Guangdong Province, China. After obtaining informed consent, a survey questionnaire was sent online to the patients, which included the patient's socio-economic situation, medical characteristics of the disease, and the Chinese version of the EQ-5D-5L scale. Using Tobit regression to explore factors related to patients' HRQoL. Results A total of 104 patients were included in the study, covering 20 independent rare disease. The average utility score reported by patients was 0.62 ± 0.33 (range, -0.391 to 1). Most respondents experienced anxiety/depression (80.8%), followed by pain/discomfort (78.2%), daily activities (72.1%), activity ability (68.3%), and self-care (35.6%). Seven patients (6.7%) reported negative utility scores, indicating a worse health condition than death. Tobit regression analysis shows that higher direct medical expenses, direct non-medical expenses, greater need for care, access to social organization assistance, and experience of discrimination are negatively correlated with EQ-5D-5L scores. Conclusions The HRQoL of patients with rare disease is poor. Anxiety/depression and pain/discomfort are the most frequently reported problems. Economic and social support resources are predictive factors for patients' HRQoL, and should be given priority consideration in policy formulation.