Characteristics of rare diseases cases: A summary analysis of hospitalized patients at a hospital in Western China from 2015 to 2023.

Rare diseases, characterized by low prevalence and high heterogeneity, impose a significant burden on patients and healthcare systems globally. Utilizing clinical data from the Hospital Information System's Patient Discharge Summaries (2015-2023), we analyzed all rare disease inpatient admissions at a major tertiary hospital in Western China. We examined demographic characteristics, classification of disease systems, medical costs, and readmission rate. Among 1086 inpatient admissions identified with rare diseases (mean age: 46.89 ±18.99 years), diseases of the nervous system (39.69%), the blood and blood-forming organs and certain disorders involving the immune mechanism (18.32%), the musculoskeletal system and connective tissue (10.50%) constituted the top three disease system categories. The number of the top15 diseases accounted for 73.66% of the total number of patients. The top 3 diseases were POEMS syndrome (11.23%), optical neuromyelitis (10.22%), and Castleman disease (7.46%). Hospitalization costs were predominantly composed of diagnostic (ranged from 6.41% to 49.75%) and medication costs (ranged from 12.97% to 46.22%). The 10 highest readmission rates ranged from 42.86% to 95.90%. The rare diseases in this hospital had a large age span, diverse disease types, high hospitalization costs and large individual differences, which was representative to a certain extent, and can provide scientific basis for the diagnosis, treatment, and prevention of rare diseases in Gansu Province and even the northwest region of China.