Diagnostic Delays and Patient Experiences in Erythropoietic Protoporphyria: A Multi-Site Study in Australia

Erythropoietic protoporphyria (EPP) is a rare photodermatosis associated with delayed diagnosis and limited access to specialist care. In this patient-reported survey, we found a median diagnostic delay of 6 years, with many participants expressing unmet needs in follow-up and treatment, and high interest in emerging therapies. These findings highlight the importance of early recognition and improved referral pathways to optimise care for individuals with EPP.