Jornal de Pesquisa em Dermatologia Clínica e Experimental
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Abstrato

Bitopertin for Erythropoietic Protoporphyria Lowers Protoporphyrin IX Levels and Improves Symptoms and Quality of Life

Gayle Ross*

Erythropoietic Protoporphyria (EPP) is a rare, predominantly inherited photodermatosis in which exposure to visible violet light causes severe cutaneous pain. Deficiency of the ferrochelatase enzyme caused by FECH mutations leads to accumulation of Protoporphyrin IX (PPIX) in erythroid cells and endothelial cells. Light hitting the PPIX in dermal vessels causes free radical formation and vascular and dermal damage. Management to date has largely consisted of strict sunlight avoidance, pain relief for painful episodes, and liver monitoring due to the approximately 5% risk of acute liver failure [1]. Whilst bone marrow transplantation is curative, it is considered too risky to be considered in most patients, other than those with liver failure warranting liver transplantation. Antioxidants such as beta-carotene, vitamin E and oral cysteine, and bile-acid binding agents such as cholestyramine have been used with limited benefit [1]. Afamelanotide is a subcutaneous alpha melanocyte-stimulating hormone analogue, which received EMA approval in 2014 and FDA approval in 2019. It has become the standard of care for EPP in countries with access to it.