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Orphanet rare disease emergency guidelines

Orphanet rare disease emergency guidelines, originally prepared in French through funding from the first French National Plan for Rare Diseases, are now available in five other languages: (English, German, Italian, Portuguese and Spanish.

Emergency care professionals will be able to consult in six European languages information concerning the nature and progression of a particular rare disease, possible emergency scenarios that can occur with the condition, medicinal products typically prescribed and their possible interactions with other products, as well as emergency procedure recommendations, including how to evaluate the severity of the emergency condition, possible immediate therapeutic measures to take, anaesthesia administration considerations, website links and references for the diseases osteogenesis imperfecta, Marfan syndrome, Dravet syndrome, paroxysmal nocturnal haemoglobinuria, nonhistamine-induced angioedema, tuberous sclerosis, amyotrophic lateral sclerosis, acute hepatic porphyria, and porphyria cutanea tarda. These first emergency guidelines were prioritised from the over 5000 diseases in the Orphanet database following an investigation into the needs and experience of emergency room professionals. Orphanet plans to create some 30 rare disease emergency care guidelines per year.

Orphanet homepage