Diseases
erythropoietic protoporphyria
For healthcare professionals — reference only. This page is a brief summary, not medical advice and not a substitute for official labeling or clinical judgement. Always verify before prescribing or dispensing.
Overview
Erythropoietic protoporphyria (EPP) is an inherited porphyria resulting in the accumulation of protoporphyrins in red blood cells that causes acute, painful photosensitivity and potential liver disease. It typically presents in early childhood with immediate pain and crying upon exposure to bright sunlight.
Symptoms
- severe pain on sun exposure
- may also be sensitive to some types of artificial light
Causes
- erythropoietic protoporphyria (epp) is a rare inherited metabolic disorder caused by a deficiency of the enzyme ferrochelatase (fech), which results from changes (mutations) in the fech gene.
Risk factors
- family history.
Diagnosis
- blood tests.
- genetic testing
Medicines used
Frequently asked questions
What is erythropoietic protoporphyria?
Erythropoietic protoporphyria (EPP) is an inherited porphyria resulting in the accumulation of protoporphyrins in red blood cells that causes acute, painful photosensitivity and potential liver disease. It typically presents in early childhood with immediate pain and crying upon exposure to bright sunlight.
What are the symptoms of erythropoietic protoporphyria?
severe pain on sun exposure, may also be sensitive to some types of artificial light
What causes erythropoietic protoporphyria?
erythropoietic protoporphyria (epp) is a rare inherited metabolic disorder caused by a deficiency of the enzyme ferrochelatase (fech), which results from changes (mutations) in the fech gene.
Which medicines are used for erythropoietic protoporphyria?
beta carotene
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