Dr Emma Huskinson
Medical Communications Lead, Medics for Rare Disease
A study, published in the Orphanet Journal of Rare Diseases has identified key clinical clues or ‘red flags’ that can help doctors suspect when a patient may have an underlying rare condition.1
Findings could help form a clinical tool for healthcare professionals, such as GPs, to help them detect when a patient has an underlying undiagnosed rare condition. The study came from a collaboration between Medics for Rare Disease and patient advocacy groups, lived experience leaders and clinicians, representing a broad spectrum of different rare diseases. Findings highlighted both common clinical and social challenges of living with a rare condition.
One discipline approach to rare disease
There are over 6,000 rare diseases, affecting approximately 6% of the population.2 Common features include having a genetic origin, starting in childhood, affecting multiple body systems. Additionally, people with rare conditions can share painfully similar clinical journeys; fraught with misdiagnoses and seeing multiple specialists, resulting in an average five-year delay from symptom onset to reaching a final diagnosis.
Medics for Rare Disease advocates for a ‘one discipline approach’ to rare disease education for healthcare professionals, drawing on these common aspects of rare disease highlighted in the study. Across the spectrum of rare disease, patients express a desire to feel heard, believed and be involved in their care. A clinical acknowledgement of ‘rare disease’ greatly improves patient experience, leading to validation, trust and informed decision-making.
People with rare conditions can
share painfully similar clinical journeys.
Clinical tool to support diagnosis
A ‘red flag’ is a clinical clue, sign or symptom from a patient’s history that raises the clinical possibility of a specific underlying disease. They are often used by GPs, as part of a clinical tool or guideline, to help rule in/rule out the presence of a condition.While there may be diagnostic criteria for individual rare diseases, there is currently limited guidance to help healthcare professionals to ‘think rare’ in the first instance.
Medics for Rare Disease is using the findings from the study in its training of medical professionals. Simply having ‘undiagnosed rare disease’ as a differential diagnosis would be a huge step forward, a milestone in clinical decision-making that has the power to place patients on a pathway to a final diagnosis and support.
Medics for Rare Disease is the working name for Medics 4 Rare Diseases — a charity registered in England and Wales. Charity number 1183996.
[1] https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03143-8
[2] https://www.nature.com/articles/s41431-019-0508-0
