Undiagnosed Rare Diseases

In medicine, the diagnosis of a patient’s condition is the touchstone which allows the basis of prognosis. But what about those who do not have a diagnosis readily available?

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Sep 24, 2019
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In medicine, the diagnosis of a patient’s condition is the touchstone which allows the basis of prognosis. It allows health professionals to offer the most appropriate treatment and develop a therapeutic plan and adequate management over time. In many cases however, patients affected by rare diseases present non-specific clinical manifestations that progress insidiously over time with a significant degree of complexity. This leads many patients to remain undiagnosed for a long time, bringing about a diagnostic odyssey consisting of multiple laboratory or imaging tests (sometimes invasive), visits to different health professionals, and risks of receiving erroneous diagnoses.

The term “undiagnosed disease” has emerged as a concept and category which helps properly guide the patient's management within the health system and reduce the time to obtain a correct diagnosis. This new series from Orphanet Journal of Rare Diseases, guest edited by David Adams, will delve into the questions which need to be answered, in order to better the lives of those with these conditions.

- What is the value of a diagnosis to the integral management of the patient?
- What are the best approaches to utilize data-sharing tools to solve rare and undiagnosed disease cases?
- What is the best way to optimize communication between busy clinicians and researchers around diagnostic hypotheses requiring research-level investigation?
- The resources required for studying undiagnosed diseases are often beyond what is available for routine medical care. Record review, literature review, and re-analysis of data and clinician-researcher collaborations are time-intensive activities. What is the best way to support these activities?

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Go to the profile of Joseph Hasan

Joseph Hasan

Senior Journal Development Editor, BMC

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