Conditions / Genetic
erythropoietic protoporphyria
info · Genetic · ICD-10: E80.0
An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.
Signs and symptoms
- Hepatic failure
- Hypertriglyceridemia
- Edema
- Low tissue ferrochelatase activity
- Hemolytic anemia
- Cholelithiasis
- Eczematoid dermatitis
- Pruritus
- Erythema
- Increased erythrocyte protoporphyrin concentration
Medications that may treat it
Also known as: EPP; Protoporphyria