STUDY IDENTIFIES RED FLAGS OF RARE DISEASE

Published in Orphanet Journal of Rare Diseases

21st May 2024: A new study, by Medics4RareDiseases, has identified seven ‘red flags, or clinical clues, that point to a patient having an underlying rare condition. The findings have the potential to form a clinical tool to aid earlier detection of ‘rare disease’ in general practice and other non-specialist health services. 

Rare diseases share many similarities; often being genetic, multi-organ conditions that manifest in childhood. Patients with these conditions face common challenges such as delayed diagnoses, misdiagnoses and multi-discipline involvement. As well as impact on their everyday lives like schooling and forming relationships. 

Back in 2018 M4RD worked with rare disease patients, carers, clinicians and advocates to co-create a survey to investigate the commonalities of rare disease. Patient advocacy groups were then invited to complete the survey and the results have been used to deduce a list of ‘red flags’ that can be used to help identify patients with underlying rare conditions. 

Red flags are signs or symptoms that raise the clinical possibility of an underlying disease. While other red flags for rare disease exist they are usually based on clinical findings and therefore require the doctor to already be thinking of an underlying condition. This is the only research that we know of that has brought together the expertise of PAGs from different rare disease areas to paint a more holistic picture of how someone may present with an undiagnosed rare condition.