Abstract
Lysosomal storage diseases (LSDs) are a group of rare diseases that cause progressive physical dysfunction and organ failure, which significantly affected patients' quality of life. The objective of this study was to explore the characteristics and usage of Enzyme Replacement Treatments (ERTs), which is the only specific therapy for LSDs, of patients with the four different LSDs (Gaucher, Fabry, Pompe disease and Mucopolysaccharidosis) in Shanghai, and then evaluate the economic burden and quality of life of these patients. A total of 31patients, involving 5, 14, 4 and 8 patients with Gaucher, Fabry, Pompe disease and Mucopolysaccharidosis, respectively, were included in analysis. The result showed that only five Gaucher disease (GD) patients in Shanghai used Imiglucerase in 2019, while the other 26 patients with the other three LSDs did not receive ERTs. The total health expenditure of GD patients was 2,273,000CNY on average mainly resulted by the high cost of Imiglucerase. The total health expenditure of the other 26 patients was 37,765CNY on average. Though the cost-sharing mechanism between basic medical insurance, charity fund and patients had been explored for Gaucher disease in Shanghai, the out-of-pocket part, which was 164,301 CNY, still laid a heavy economic burden on the patients and their families. The mean EQ-VAS score of GD patients was 76.4 ± 15.5, which was higher than that of the other three LSDs. It is recommended that the scope of drug reimbursement list and the reimbursement level should be further expanded and raised to help improve the living conditions of patients with LSDs.