Erythropoietic protoporphyria

Erythropoietic protoporphyria (EPP) is a rare metabolic disorder that primarily affects the skin and, in some cases, the liver. It is one of the most common types of porphyria and is caused by a deficiency in the enzyme ferrochelatase.

Symptoms

The main symptom of EPP is photosensitivity, resulting in painful, itchy skin lesions on exposure to sunlight. Other symptoms can include redness, swelling, and a burning sensation on the skin. In severe cases, exposure to sunlight can cause second-degree burns.

Causes

EPP is caused by mutations in the FECH gene, which provides instructions for making the enzyme ferrochelatase. This enzyme is involved in the last step of the heme production pathway. Heme is a vital molecule for all of the body's organs. It is a component of hemoglobin, the molecule that carries oxygen in the blood.

Diagnosis

Diagnosis of EPP is based on the clinical symptoms, a physical examination, and specialized tests that measure the porphyrins in the blood, urine, and stool. Genetic testing can also be done to identify mutations in the FECH gene.

Treatment

There is currently no cure for EPP. Treatment is focused on managing symptoms and includes avoiding sunlight, wearing protective clothing, and in some cases, taking medication to reduce the skin's sensitivity to sunlight. In severe cases, a liver transplant may be necessary.

See also

• Porphyria
• Photosensitivity
• Liver transplant

References

Erythropoietic protoporphyria Resources
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