ArticleOrphanet journal of rare diseases2016
Characteristics of patients contacting a center for undiagnosed and rare diseases.
Article in Orphanet journal of rare diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- A decision tree-based algorithm for structured risk stratification of rare rheumatic diseases in a tertiary referral setting.Frontiers in medicine · 2026Article
- Article
- [Retrospective analysis of a patient cohort with suspicion of systemic amyloidosis, finally not confirmed].Deutsche medizinische Wochenschrift (1946) · 2025Article
- The economic burden of diagnostic uncertainty on rare disease patients.BMC health services research · 2024Article
- [Faster diagnosis of rare diseases with artificial intelligence-A precept of ethics, economy and quality of life].Innere Medizin (Heidelberg, Germany) · 2023Review
- The Impact of Artificial Intelligence on Optimizing Diagnosis and Treatment Plans for Rare Genetic Disorders.Cureus · 2023Review
- Rare diseases: why is a rapid referral to an expert center so important?BMC health services research · 2023Article
- [Healthcare for people with rare diseases: recommendations for successful intersectoral collaboration].Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz · 2023Article
- Frequency-based rare diagnoses as a novel and accessible approach for studying rare diseases in large datasets: a cross-sectional study.BMC medical research methodology · 2023Article
- Psychological distress of adult patients consulting a center for rare and undiagnosed diseases: a cross-sectional study.Orphanet journal of rare diseases · 2023Article
- The Impact of Artificial Intelligence in the Odyssey of Rare Diseases.Biomedicines · 2023Review
- [ZSE-DUO - dual guidance structure at the centre for rare diseases].Innere Medizin (Heidelberg, Germany) · 2022Review
- Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).Orphanet journal of rare diseases · 2022Article
- Personalized medicine for rare neurogenetic disorders: can we make it happen?Cold Spring Harbor molecular case studies · 2022Article
- White blood cell count profile in patients with physical complaints without known causes.SAGE open medicine · 2022Article
- Health economic benefits through the use of diagnostic support systems and expert knowledge.BMC health services research · 2021Article
- How to design a registry for undiagnosed patients in the framework of rare disease diagnosis: suggestions on software, data set and coding system.Orphanet journal of rare diseases · 2021Article
- [Importance of psychosomatic medicine for people with rare diseases].Der Internist · 2019Review
- [Computer-assisted diagnosis of rare diseases].Der Internist · 2018Article
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5 authors.
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Abstract
backgroundLittle is known about the characteristics of patients seeking help from dedicated centers for undiagnosed and rare diseases. However, information about their demographics, symptoms, prior diagnoses and medical specialty is crucial to optimize these centers' processes and infrastructure.
methodsUsing a questionnaire, structured information from 522 adult patients contacting a center for undiagnosed and rare diseases was obtained. The information included basic sociodemographic data (age, gender, insurance status), previous hospital admissions, primary symptoms of complaint and previously determined diagnosis.
resultsThe majority of patients completing the questionnaire were female, 300 (57 %) vs. 222 men (43 %). The median age was 52 years (range 18-92). More than half, 309 (59 %), of our patients had never been admitted to a university hospital. Common diagnoses included other soft tissue disorders, not classified elsewhere (ICD M79, n = 63, 15.3 %), somatoform disorders (ICD F45, n = 51, 12.3 %) and other polyneuropathies (ICD G62, n=36, 8.7 %). The most frequent symptoms were general weakness (n = 180, 36.6 %) followed by arthralgia (n = 124, 25.2 %) and abdominal discomfort (n = 113, 23.0 %). The majority of patients had either internal medicine (81.3 %) and/or neurologic (37.6 %) health problems.
conclusionsPain-associated diagnoses and the typical "unexplained" medical conditions (chronic fatigue syndrome, fibromyalgia, irritable bowel syndrome) are frequent among people contacting a center dedicated to undiagnosed diseases. The chief symptoms are mostly unspecific. An interdisciplinary organizational approach involving mainly internal medicine, neurology and psychiatry/psychosomatic care is needed.
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