Table 2 Recommendations for red flags
Red Flag | Recommendation setting | Recommendation |
|---|---|---|
Multi-system involvement (3 or more) | Healthcare settings, especially primary care | Utilise a holistic approach to assessment in clinical environments, consider the patient’s history and be aware of the most common systems affected by rare disease (CNS, Musculoskeletal, Sensory) |
Genetic inheritance pattern | Healthcare settings, especially primary care | Consider the importance of family history in primary care settings and aim to understand the patient’s family history |
Presentation in both childhood and adulthood | Healthcare settings, especially primary care | Maintain awareness that rare diseases can present in both childhood and adulthood and do not rule out a rare disease simply due to a patient's age |
Difficulties at school e.g. especially absences, difficulty participating in physical education and bullying/social isolation | Education settings | Raise awareness amongst teachers and educators of these signs and how to recognise them. Provide advice on how educators can support parents to seek clinical assessment |
Multiple specialist referrals | Healthcare settings, especially primary care and specialist care | Consider the patient’s history of engagement with healthcare providers. If a patient has seen multiple specialists and has not yet had a diagnosis, consider a rare disease |
Delayed diagnosis | Healthcare settings, especially primary care | Consider the possibility of rare disease diagnosis in a patient who has not received a diagnosis after one year of seeking medical support for a health issue |
Misdiagnosis | Healthcare settings, especially primary care | Consider the possibility of rare disease diagnosis in a patient who has received several misdiagnoses Do not rule out a rare disease simply because a patient has an established diagnosis of epilepsy or arthritis; given that these may be secondary processes |