Erythropoietic protoporphyria
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Erythropoietic protoporphyria (or commonly called EPP) is a form of porphyria, which varies in severity and can be very painful. It arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the red blood cells (erythrocytes), plasma, skin, and liver.[2] The severity varies significantly from individual to individual.
Quick Facts Other names, Specialty ...
Erythropoietic protoporphyria | |
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Other names | EPP[1] |
Chronic skin lesions of EPP | |
Specialty | Endocrinology, dermatology |
Risk factors | pain and irritation |
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A clinically similar form of porphyria, known as X-Linked dominant protoporphyria, was identified in 2008.[3]