erythropoietic protoporphyria
MeSH: D046351ORPHA: 79278
Overview
acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with erythropoietic protoporphyria, sourced from HPO and Orphanet clinical annotations.
Eczematoid dermatitisEdemaPruritusCutaneous photosensitivityCholelithiasisCirrhosisDecreased liver functionMicrocytic anemiaAbnormal circulating porphyrin concentrationErythema
Classification & Codes
MeSH Code
D046351Orphanet Code
ORPHA:79278erythropoietic protoporphyria
| MeSH | D046351 |
| Orphanet | ORPHA:79278 |
| Treatments | 0 drug(s) |
| Symptoms on record | 10 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO