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.
Bell et al. (Fri,) studied this question.