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Erythropoietic Protoporphyria

Erythropoietic Protoporphyria Causes

Protoporphyria, erythropoietic, is caused by the lack of ferrochelatase enzyme in the cell. Exact reasons of this deficiency have not yet been determined.

Erythropoietic Protoporphyria Definition

Protoporhyria, erythropoietic is a painful form of porphyria which is caused by the lack of the ferrochelatase enzyme. Because of this the tissue gains extremely high levels of protopohyrin that causes the skin's photosensitivity.

Erythropoietic Protoporphyria Symptoms and Signs

The main symptom of protoporphyria, erythropoietic is painful photosensitivity in the skin. The skin then suffers a burning sensation when exposed to light. The disease begins to develop during childhood and can be seen on the face as well as the hands and feet. Long term exposure to the sun can lead to edema and blistering. Persons with the disease are more susceptible to acquiring gallstones and liver failure.

Erythropoietic Protoporphyria Treatment

There is no cure for the disease. Symptoms can only be controlled by limiting exposure to sunlight. Wearing protective clothing is also helpful. Others take a daily dose of beta-carotene to lower their sensitivity to sunlight.

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