Erythropoietic protoporphyria, commonly abbreviated EPP, is a form of porphyria. It varies in severity between individuals and can be very painful. The condition arises from a deficiency in the enzyme ferrochelatase, which leads to abnormally high levels of protoporphyrin in the red blood cells (erythrocytes), in the plasma, in the skin and in the liver. A clinically similar form of porphyria, known as X-linked dominant protoporphyria, was identified in 2008. The record here reflects the mechanism stated in the source lead, an enzyme deficiency with protoporphyrin accumulation across blood, skin and liver, and does not offer any treatment or personal medical guidance.
Facts
Classification
ICD-10 ChapterIV: Endocrine, Nutritional and Metabolic Diseases 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category)Complication of Another Disease 2 First Described Sources
1. National Library of Medicine MeSH: MeSH descriptor Protoporphyria, Erythropoietic
National Library of Medicine MeSHMeSH tree numberQuote, MeSH tree number
<http://id.nlm.nih.gov/mesh/D046351> <http://id.nlm.nih.gov/mesh/vocab#treeNumber> <http://id.nlm.nih.gov/mesh/C17.800.827.742.812> .
2. Erythropoietic protoporphyria (Wikipedia)
Lead paragraph
It arises from a deficiency in the enzyme ferrochelatase
lead sentence 1
Erythropoietic protoporphyria (or commonly called EPP) is a form of porphyria, which varies in severity and can be very painful.
Article text
Erythropoietic protoporphyria was first described in 1953 by Kosenow and Treibs and completed in 1960 by Magnus et al. at the St John's Institute of Dermatology in London.
Lead
Erythropoietic protoporphyria (or commonly called EPP) is a form of porphyria, which varies in severity and can be very painful.
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