Why is misdiagnosis more likely among some people with rare diseases than others? Insights from a population-based cross-sectional study in China

Abstract

Background For 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. Results Three 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). Conclusions Our 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.

Factors affecting pathways to care for children and adolescents with complex vascular malformations: parental perspectives

“…Consequently, families with lower household income, more restrictive insurance, or who live far from specialist teams are likely at a higher risk of delayed diagnosis and insufficient care. For example, in other rare diseases, distance from a tertiary center was associated with misdiagnosis and delayed diagnosis [ 17 , 18 ] Future work should identify which families are at the highest risk of disparate medical care to support equitable health care delivery. Improving this care might require proactive outreach from VM specialists to community physicians.…”

“…These limitations in quantity and quality of information can lead parents to scavenge multiple information sources, including peer support, internet searches, and social media [ 20 , 21 ]. Information barriers in rare diseases have also been linked to delays in diagnosis and misdiagnosis [ 18 , 22 ] Similarly, studies have demonstrated deficiencies in clinician knowledge about rare diseases and called for trustworthy, accessible information sources for clinicians [ 23 ] Parents of children with rare disorders frequently report knowing more about the disease than their clinicians, which can lead to complications in the clinical relationship and diminished trust [ 24 , 25 ] Our findings suggest that, in the context of complex VMs, parents' increased advocacy and information-seeking results in them knowing more about the disease and system of care. Consequently, the burden of education and care coordination of care falls on parents.…”

Innovation in Informatics to Improve Clinical Care and Drug Accessibility for Rare Diseases in China

“…Difficulties in the diagnosis and treatment of rare diseases and high rates of misdiagnoses and missed diagnoses are common in China (Dong et al, 2020). In addition, rare disease medicine accessibility and affordability issues are prominent, and a data basis for policy formulation is lacking.…”

Prevalence and Classification of Misdiagnosis Among Hospitalised Patients in Five General Hospitals of Central Uganda

“…The reasons as to why uncommon diseases are likely to be misdiagnosed have been widely studied elsewhere. 34,35 In the setting of this study, it is likely that these conditions featured less among misdiagnosed patients simply not because clinicians are better prepared to diagnose them but because of their rare occurrence. When patients present with such uncommon illnesses, they meet clinicians who are less prepared to diagnose them appropriately due to the lack information about such diseases.…”