Rare diseases: 8 questions to ask
Did you know that 8 questions asked to your patients can already guide you in the case of a rare disease?
If you can answer most of these 8 questions with 'yes' and your intuition confirms it, it would be wise to consider a rare disease.
- Does the patient present with acute or chronic symptoms that are inexplicable, inconsistent or non-specific, or symptoms at an unusually young age?
- Is there a family history?
- Have there been a number of periods of illness with different or identical symptoms?
- Is there a history of consultations with different medical specialities without satisfactory results?
- Are there any pathological or borderline results that are inconclusive at first sight?
- Has there ever been any suspicion of psychosomatic aetiology?
- Have there been phases of the illness going back several years?
- Are certain exposure scenarios known (in relation to food, leisure activities, housing, animals, travel or work)?
- Do not hesitate to refer your patient to a health specialist or geneticist, preferably linked to one of our designated centres of expertise for rare diseases, who are better placed to make a diagnosis.
For more information, visit https://ulbgenetics.be/fonctions-maladies-rares/
* These 8 questions were written by rare disease experts involved in the EMRaDi project.