Intractable & Rare Diseases Research | Analysis of Rare Disease Hospitalization Cases in Western China

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This study is based on rare disease hospitalization data from a large tertiary hospital in Western China between 2015 and 2023. It systematically analyzes key features such as patient demographics, disease classification, hospitalization costs, and readmission rates. The findings reveal significant differences in disease distribution across organ systems, high hospitalization costs, and notable readmission rates, providing scientific support for regional rare disease prevention and healthcare policy optimization.

 

Literature Overview
The article 'Characteristics of rare diseases cases: A summary analysis of hospitalized patients at a hospital in Western China from 2015 to 2023', published in the journal 'Intractable & Rare Diseases Research', reviews and summarizes the epidemiological characteristics and healthcare burden of rare disease hospitalization cases at a large tertiary hospital in Western China. The article highlights the increasing proportion of rare diseases among hospitalized patients, notable gender and age distribution disparities, high hospitalization costs, and significant readmission rates, offering crucial insights for early diagnosis and treatment strategies.

Background Knowledge
Rare diseases are a group of highly heterogeneous conditions with low prevalence, with approximately 6,000 to 7,000 identified globally, affecting around 300 million patients. About 80% of rare diseases have a genetic basis, with 50-75% manifesting in childhood and 30% of patients not surviving beyond five years. Due to differences in healthcare access, economic conditions, and social support systems, there is no universal definition for rare diseases; generally, a disease is considered rare if it affects fewer than 50 per 100,000 people. In 2018 and 2023, China released its first (121 diseases) and second (87 diseases) official lists of rare diseases and established a national rare disease registry system. However, only about 62.81% of rare diseases in China have epidemiological data, particularly lacking in underdeveloped western regions. This study selects data from a large tertiary hospital in Gansu Province, systematically analyzing the disease spectrum, cost structure, and readmission rates to provide data support for regional rare disease diagnosis and treatment system development.

 

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Research Methods and Experiments
The study utilized hospital information system (HIS) data from Gansu Provincial Hospital to screen hospitalized cases with discharge diagnoses of rare diseases between January 2015 and December 2023. Cases were matched using ICD-10 codes from the rare disease list published by China’s National Health Commission, ultimately including 1,086 patients. Data cleaning and analysis were conducted using Microsoft Excel 2019, SPSS v23, and GraphPad Prism v9.0.0. Statistical analyses were performed on hospitalization costs, readmission rates, disease classifications, and other indicators using t-tests, Mann-Whitney U tests, and chi-square tests.

Key Findings and Insights

• Among the 1,086 hospitalized patients, 550 were male (50.64%) and 536 were female (49.36%), yielding a male-to-female ratio of 1.03:1. The average patient age was 46.89 ± 18.99 years, with no significant gender difference observed.
• Neurological diseases accounted for the highest proportion (39.69%), followed by hematological and immune-related diseases (18.32%) and musculoskeletal and connective tissue diseases (10.50%).
• The top 15 diseases accounted for 73.66% of total cases, with POEMS syndrome (11.23%), neuromyelitis optica (10.22%), and Castleman’s disease (7.46%) being the most prevalent.
• Hospitalization costs were primarily driven by diagnostics (6.41%–49.75%) and medications (12.97%–46.22%). For certain diseases, surgical costs were significant, such as retinitis pigmentosa (14.41%) and Marfan syndrome (8.61%).
• In terms of readmission rates, McCune-Albright syndrome had the highest rate (95.90%), followed by POEMS syndrome (88.89%) and Fanconi anemia (42.86%).
• The median length of hospital stay was seven days (4–11 days), with most patients admitted through outpatient clinics (85.17%) and emergency departments (13.72%).

Research Significance and Future Directions
This study represents the first systematic analysis of the epidemiological features and healthcare cost structure of rare disease inpatients in Western China, offering data support for regional rare disease prevention systems, insurance policy optimization, and clinical multidisciplinary collaboration. Future efforts should focus on training primary care physicians, optimizing early screening mechanisms for rare diseases, and promoting the development of multidisciplinary treatment platforms. Additionally, the study notes the impact of the pandemic on hospitalization rates from 2020 to 2022, suggesting that healthcare resource fluctuations should be considered in epidemiological analyses.

 

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Conclusion
Rare diseases not only pose significant medical challenges but also impose heavy social and economic burdens. Based on a decade of hospitalization data from Western China, this study reveals notable differences in age, gender, system-based disease classification, hospitalization costs, and readmission rates. Neurological diseases were found to be the most common, with diagnostics and medication costs constituting a major portion of hospitalization expenses, while surgical costs were significant for certain diseases. High readmission rates indicate substantial difficulties in patient management. The study also highlights insufficient awareness of rare diseases among primary healthcare workers and uneven regional healthcare resource distribution as key causes of misdiagnosis and treatment delays. Therefore, enhancing regional training, establishing multidisciplinary consultation platforms, optimizing insurance policies, and improving drug supply mechanisms are essential for improving rare disease management in Western China. This study fills a research gap in the region, providing foundational data for policy development and clinical practice.

 

Qi Wang, Liang Guo, Yan Yang, and Jin He. Characteristics of rare diseases cases: A summary analysis of hospitalized patients at a hospital in Western China from 2015 to 2023. Intractable & Rare Diseases Research.