ArticleOrphanet journal of rare diseases2020
Why is misdiagnosis more likely among some people with rare diseases than others? Insights from a population-based cross-sectional study in China.
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 64 citations in OpenAlex.
- Trial
- A text mining and ontology-based approach using phenotypes to obtain relevant literature for rare diseases.iScience · 2026Article
- Initial-Visit Specialty Triage in Rare Diseases Using Large Language Models: Retrospective Benchmarking Study.Journal of medical Internet research · 2026Article
- Diagnostic yield and genetic landscape of rare pediatric diseases in Vietnam identified by exome sequencing.Scientific reports · 2026Article
- Grounding large language models in clinical diagnostics.Nature communications · 2026Article
- Comparing disease burden of rare diseases with common medical conditions in china: evidence from a national online health survey in 2022.Archives of public health = Archives belges de sante publique · 2026Article
- Co-creation process of an app for people with rare diseases - a citizen science approach.Orphanet journal of rare diseases · 2025Article
- Strategies for Creating Robust Patient Groups to Study Diverse Conditions with Electronic Health Records.Annual review of biomedical data science · 2025Review
- Comparative analysis of large language models on rare disease identification.Orphanet journal of rare diseases · 2025Article
- An ontology-based rare disease common data model harmonising international registries, FHIR, and Phenopackets.Scientific data · 2025Article
- Quality of life and its contributors among patients with homozygous familial hypercholesterolemia in China.Frontiers in public health · 2025Article
- The economic burden of diagnostic uncertainty on rare disease patients.BMC health services research · 2024Article
- Latent profiles and predictors of barriers to care in Swiss children and adolescents with rare diseases.Journal of pediatric psychology · 2024Article
- Budget impact analysis of high-priced orphan medicinal products intended for the treatment of rare diseases in China: evidence from a densely populated metropolis of Chengdu.BMC health services research · 2024Article
- Artificial Intelligence and Health Equity: Opportunities and Obstacles.JACC. Advances · 2024Article
- Patterns of the Health and Economic Burden of 33 Rare Diseases in China: Nationwide Web-Based Study.JMIR public health and surveillance · 2024Article
- Time to diagnosis for a rare disease: managing medical uncertainty. A qualitative study.Orphanet journal of rare diseases · 2024Article
- Current situation and prospect for the diagnosis and treatment of pediatric critical rare diseases in China.Pediatric investigation · 2024Review
- Factors affecting the ability of patients with complex vascular anomalies to navigate the healthcare system.Orphanet journal of rare diseases · 2024Article
- Measurement properties of the EQ-5D-5L and PROPr in patients with spinal muscular atrophy.Health and quality of life outcomes · 2023Article
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFor patients with rare diseases (RD), misdiagnosis (or erroneous diagnosis) is one of the key issues that hinder RD patients' accessibility to timely treatment. Yet, little is known about the main factors that are associated with RD patients' misdiagnosis. The objective of this study is to analyze data from a national survey among 2040 RD patients from China to explore the association between misdiagnosis and various factors, including patients' demographics, socio-economic status, medical history, and their accessibility to RD information.
resultsThree binary logistic regression analyses were performed to assess the relationships between misdiagnosis and level of rarity of the RDs (mild, moderate, and severe), demographics, health insurance levels, and accessibility to disease-related information by using the total sample, and the adult and non-adult sub-samples. We found that accessibility to RD information is the most critical factor influencing the patients' chances of being misdiagnosed (odds ratio [OR] = 4.459, p < 0.001). In other words, the greater the difficulty in accessing the information on RD management, the higher the possibility of experiencing misdiagnosis. Such influences of information accessibility on misdiagnosis were repeatedly discovered when examining the adult (OR = 3.732, p < 0.001) and the non-adult (OR = 5.174, p < 0.001) sub-samples. The association between perceived economic status and misdiagnosis was only significant in the total sample. The only other factor significantly associated with misdiagnosis was disease multimorbidity: participants who reported no multimorbidity are less likely to experience misdiagnosis (OR = 0.42, p < 0.001).
conclusionsOur study indicated that patients with RDs who have difficulty in accessing disease-related information are two to five times more likely to have experienced misdiagnosis. Even after adjusting for the patients' age, gender, economic levels, and education levels, the impact of information accessibility was still significant. Our finding highlights the importance of access to information in reducing misdiagnosis among RD patients.
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