
doi: 10.1093/ced/llaf306
pmid: 40692281
Erythropoietic protoporphyria (EPP) is a rare but severely debilitating photodermatosis triggered by exposure to visible and longwave ultraviolet A light, causing intense and prolonged pain that leads to extreme sunlight avoidance and a markedly reduced quality of life. Afamelanotide, the only licensed medication for EPP phototoxicity, is currently being assessed under the Scottish Medicines Consortium’s ultra-orphan pathway, which supports access to treatments for very rare conditions. This is the first report of afamelanotide use in patients with EPP in Scotland. It demonstrates a significant improvement in the time that patients with EPP can spend in sunlight without experiencing painful symptoms and significantly enhancing their overall quality of life.
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