ArticleBMC health services research2023
Rare diseases: why is a rapid referral to an expert center so important?
Article in BMC health services research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 33 citations in OpenAlex.
- Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.Journal of inherited metabolic disease · 2026Review
- Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey.Journal of community genetics · 2026Article
- Patient- and Caregiver-Reported Experiences of Rare Diseases in Türkiye: A Patient-Organization-Recruited Online Survey.Journal of clinical medicine · 2026Article
- Diagnostic Performance of Large Language Models for Orthopedic-Related Rare Diseases and Their Impact on Physicians' Diagnostic Accuracy: 2-Stage Comparative Evaluation Study Based on the Chinese Rare Disease Catalog.Journal of medical Internet research · 2026Article
- Initial-Visit Specialty Triage in Rare Diseases Using Large Language Models: Retrospective Benchmarking Study.Journal of medical Internet research · 2026Article
- The "China model" for rare disease governance: Policy framework, local implementation, and pathways for optimization.Intractable & rare diseases research · 2026Review
- A comprehensive approach to users from a Brazilian clinical genetics service: an observational study.Orphanet journal of rare diseases · 2026Observational
- Evaluating algorithmic approaches to rare disease case-finding: a retrospective validation study using electronic health records.Orphanet journal of rare diseases · 2026Article
- Bridging data gaps of rare conditions in ICU: a multi-disease adaptation approach for clinical prediction.NPJ digital medicine · 2026Article
- Rare diseases in children-Knowledge, experiences and challenges faced by pediatricians in Tanzania.PLOS global public health · 2026Article
- Adequacy of electronic and in-person referrals to endocrinology: a prospective study of primary care and hospital consultations.Frontiers in endocrinology · 2026Article
- Developing a National Network for Leukodystrophy Research and Care in Canada: The CARELeuko Initiative.Neurology. Genetics · 2025Review
- A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare Diseases.Molecular genetics & genomic medicine · 2025Review
- Information content as a health system screening tool for rare diseases.NPJ digital medicine · 2025Article
- Cracking the code: a head-to-head comparison of expert clinicians and artificial intelligence in diagnosing rare diseases.Orphanet journal of rare diseases · 2025Article
- Comparative management practices of Wilson disease in Californian and Italian providers.Journal of health, population, and nutrition · 2025Article
- Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR).European journal of neurology · 2025Article
- Article
- Caregivers' experiences and challenges of the diagnostic odyssey in Dravet syndrome.Orphanet journal of rare diseases · 2025Article
- The cost of the diagnostic odyssey of patients with suspected rare diseases.Orphanet journal of rare diseases · 2025Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPatients with rare diseases usually go through years of diagnostic odysseys. The large number of rare diseases and the associated lack of expertise pose a major challenge to physicians. There are few physicians dealing with patients with rare diseases and they usually work in a limited number of specialized centers. The aim of this study was to evaluate the diagnostic efficiency of an expert center.
methodsThe diagnostic pathway of 78 patients of the outpatient clinic for rare inflammatory systemic diseases with renal involvement was analyzed retrospectively. For this purpose, each examination day was documented with the corresponding examinations performed from the onset of initial symptoms. Three time points were considered: The time when patients first visited a physician with symptoms, the time when patients consulted an expert, and the time when they received the correct diagnosis. In addition, it was documented whether the diagnosis could be made without the expert, or only with the help of the expert. The examinations that confirmed the diagnosis were also documented for each patient.
resultsA correct diagnosis was made without the help of the expert in only 21% of cases. Each patient visited an average of 6 physicians before consulting the expert. Targeted diagnostics enabled the expert to make the correct diagnosis with an average of seven visits, or one inpatient stay. However, referral to the expert took an average of 4 years.
conclusionThe data show that rapid and targeted diagnostics were possible in the expert center due to the available expertise and the interdisciplinary exchange. Early diagnosis is of great importance for many patients, as an early and correct therapy can be decisive for the course of the disease.
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