Erythropoietic protoporphyrias: Pathogenesis, diagnosis and management
Anna‐Elisabeth Minder,
Louisa G. Kluijver,
Jasmin Barman‐Aksözen
et al.
Abstract:The erythropoietic protoporphyrias consist of three ultra‐rare genetic disorders of the erythroid heme biosynthesis, including erythropoietic protoporphyria (EPP1), X‐linked protoporphyria (XLEPP) and CLPX‐protoporphyria (EPP2), which all lead to the accumulation of protoporphyrin IX (PPIX) in erythrocytes. Affected patients usually present from early childhood with episodes of severe phototoxic pain in the skin exposed to visible light. The quantification of PPIX in erythrocytes with a metal‐free PPIX ≥3 time… Show more
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