Intractable & Rare Diseases Research | A CiteSpace-Based Visualized Analysis of TCM Diagnosis and Treatment Literature for Rare Diseases in Mainland China

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This study utilizes CiteSpace to conduct a visualized analysis of 3,058 literature records on traditional Chinese medicine (TCM) treatment of rare diseases, systematically revealing the current research landscape, hotspots, and trends, while clarifying the therapeutic advantages of TCM in multiple rare diseases and outlining future research directions.

 

Literature Overview

This article, 'A CiteSpace-Based Visualized Analysis of TCM Diagnosis and Treatment Literature for Rare Diseases in Mainland China,' published in the journal Intractable & Rare Diseases Research, reviews and summarizes 3,058 literature records on TCM treatment of 207 rare diseases, sourced from CNKI, VIP, Wanfang, and Chaoxing databases. The study employs CiteSpace software for co-authorship, institutional collaboration, keyword co-occurrence, and clustering analysis, systematically mapping the development trajectory, research hotspots, and future trends in the field of TCM for rare disease diagnosis and treatment. Through annual publication trends, core author and institutional distribution, and keyword clustering and burst detection, the study reveals prominent therapeutic advantages of TCM in idiopathic pulmonary fibrosis, multiple sclerosis, Wilson's disease, retinitis pigmentosa, and osteosarcoma, while noting that current research largely relies on renowned physicians' clinical experience and case-control studies, lacking high-quality multicenter clinical evidence. This study provides a systematic reference for research planning and clinical decision-making in TCM treatment of rare diseases.

Background Knowledge

Rare diseases refer to disorders with extremely low prevalence, with over 7,000 known types globally, approximately 80% of which have a genetic basis. Due to the small number of patients and complex pathophysiological mechanisms, diagnosis and treatment of rare diseases have long faced significant challenges. In the absence of specific therapies, traditional medical systems such as TCM have become important complementary and alternative approaches due to their holistic perspective, individualized treatment, and multi-target intervention advantages. Through syndrome differentiation and regulation of bodily balance, TCM holds potential value in symptom improvement, disease progression delay, and quality of life enhancement. However, TCM research in the field of rare diseases still faces issues such as low evidence levels, fragmented research teams, and weak collaboration networks. Current mainstream studies mostly rely on clinical experience summaries, case reports, and retrospective analyses, lacking large-scale randomized controlled trials (RCTs) and mechanistic exploration. Furthermore, standardization of TCM terminology, construction of efficacy evaluation systems, and optimization of integrated Chinese-Western medicine treatment protocols remain pressing scientific challenges. This study systematically organizes the existing research landscape through bibliometric methods, precisely identifying advantageous disease areas and research gaps, thereby providing strategic direction for future construction of multicenter collaboration networks, high-quality clinical research, and mechanistic exploration.

 

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Research Methods and Experiments

The study retrieved literature on TCM treatment of rare diseases from CNKI, VIP, Wanfang, and Chaoxing databases, covering the period from database inception to July 31, 2025, and precisely matched them with the two batches of nationally listed rare diseases totaling 207 conditions. After deduplication and screening, 3,058 articles were included. CiteSpace 6.4.R1 software was used for visualized analysis, with a time slice set from 1958 to 2025 (one year per slice), and node types including authors, institutions, and keywords. Term sources included titles, abstracts, author keywords, and Keywords Plus. Network pruning was performed using Pathfinder and Pruning sliced networks to generate co-authorship networks, institutional collaboration networks, keyword co-occurrence networks, cluster maps, timeline maps, and burst term maps, enabling analysis of collaboration patterns, thematic distribution, evolutionary trends, and research frontiers.

Key Conclusions and Insights

• TCM demonstrates clear therapeutic advantages in five rare diseases: idiopathic pulmonary fibrosis, multiple sclerosis, Wilson's disease, retinitis pigmentosa, and osteosarcoma, with relatively in-depth and continuously active research
• TCM shows potential as an adjunctive therapy for malignant melanoma, amyotrophic lateral sclerosis (ALS), hyperhomocysteinemia, primary biliary cholangitis, and lymphangioleiomyomatosis
• Research hotspots focus on etiology and pathogenesis, syndrome differentiation and treatment, renowned physicians' experience summaries, and formula and herb pattern analysis, with data mining and network pharmacology methods gradually emerging in recent years
• Core research institutions are primarily traditional Chinese medicine universities and their affiliated hospitals, such as Beijing University of Chinese Medicine and Tianjin University of Traditional Chinese Medicine, but inter-regional collaboration remains relatively weak
• Current research mainly involves case-control studies and mechanistic exploration, with clinical research gradually transitioning toward integrated Chinese-Western medicine models, though high-quality multicenter RCTs are still lacking
• Although overall publication volume shows an upward trend, a large-scale core author group has not yet formed, and collaboration among teams and institutions needs further strengthening to enhance research impact

Research Significance and Outlook

This study is the first to systematically map the research landscape of TCM treatment of rare diseases in mainland China, clarifying advantageous disease areas and research hotspots, thus providing strategic reference for research institutions and clinical teams. The study reveals the unique value of TCM in symptom improvement and quality of life enhancement, particularly in diseases affecting the pulmonary, neurological, and hepatobiliary systems. Future efforts should focus on strengthening multicenter collaboration networks, promoting the development of standardized treatment protocols, and conducting high-quality randomized controlled trials to provide higher-level evidence.

The study also highlights current challenges in the field, including fragmented research teams, low evidence levels, and lack of multidisciplinary integration. Therefore, future directions should focus on establishing a national TCM rare disease research alliance, integrating clinical, basic, and data science resources, exploring the molecular mechanisms of TCM interventions, and promoting real-world studies and long-term follow-up cohort construction. Additionally, optimization and evaluation of integrated Chinese-Western medicine treatment protocols should be strengthened to elevate the role of TCM in comprehensive rare disease management.

 

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Conclusion

This study conducted a systematic visualized analysis of 3,058 literature records on TCM treatment of rare diseases using CiteSpace, comprehensively revealing the current research status and development trends in this field in mainland China. The results show that TCM has clear diagnostic and therapeutic advantages in five diseases: idiopathic pulmonary fibrosis, multiple sclerosis, Wilson's disease, retinitis pigmentosa, and osteosarcoma, with strong research depth and continuity. Additionally, potential adjunctive value is also demonstrated in diseases such as amyotrophic lateral sclerosis and primary biliary cholangitis. Research hotspots have long centered on syndrome differentiation, etiology and pathogenesis, and renowned physicians' experience, with data mining and network pharmacology methods gradually emerging in recent years. Although publication volume has steadily increased, a large-scale core research team has not yet formed, institutional collaboration networks are sparse, and high-quality clinical evidence remains scarce. Future efforts should focus on strengthening multicenter collaboration, promoting standardized protocol development, conducting large-sample randomized controlled trials, and deepening mechanistic research to enhance the scientific rigor and impact of TCM in rare disease diagnosis and treatment. This study provides an important reference for optimizing research planning, promoting resource integration, and guiding clinical practice.

 

Yun Shi, Shijing Xiao, and Da He. Visualization analysis of the use of traditional Chinese medicine in the diagnosis and treatment of rare diseases in mainland China based on CiteSpace. Intractable & Rare Diseases Research.