| Erythropoietic protoporphyria | |
|---|---|
| Other names | EPP[1] |
 | |
| Chronic skin lesions of EPP | |
| Specialty | Endocrinology, dermatology  |
| Risk factors | pain and irritation |
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.
A clinically similar form of porphyria, known as X-Linked dominant protoporphyria, was identified in 2008.[3]
- ^ "Autosomal erythropoietic protoporphyria". Orphanet. Retrieved 17 April 2019.
- ^ Casanova-González MJ, Trapero-Marugán M, Jones EA, Moreno-Otero R (September 2010). "Liver disease and erythropoietic protoporphyria: a concise review". World Journal of Gastroenterology. 16 (36): 4526–4531. doi:10.3748/wjg.v16.i36.4526. PMC 2945483. PMID 20857522.
- ^ Seager MJ, Whatley SD, Anstey AV, Millard TP (January 2014). "X-linked dominant protoporphyria: a new porphyria". Clinical and Experimental Dermatology. 39 (1): 35–37. doi:10.1111/ced.12202. PMID 24131146. S2CID 1971165.