Erythropoietic protoporphyria

Written by Professor James Ferguson, consultant dermatologist

What is erythropoietic protoporphyria?

Erythropoietic protoporphyria (EPP) is a member of a group of diseases called the porphyrias.

Porphyrins are chemicals that are important for manufacturing blood and enzymes within the body. The porphyrias are diseases in which a problem has arisen with the porphyrin chemical pathway. As a result, a build-up of one or more of the chemicals occurs in the body, making the skin photosensitive.

In protoporphyria, a hereditary enzyme defect results in too much of a chemical (protoporphyrin) being present in the circulation and the skin. When in the skin, this chemical absorbs visible light, producing a reaction that the patient feels as a painful burning skin sensation.

How does EPP show itself?

EPP usually starts in childhood, although there is a late-onset form that first occurs when the person is an adult. Infants who are affected by EPP often scream soon after being taken out into the sun. An older child is capable of complaining of the sensation and describing it to an adult.

Frequently, the painful swelling of the skin may be relieved by cooling the affected areas in cold water. Often the visible changes to the skin are mild and more noticeable in those living in sunnier climates.

Who suffers from EPP?

Both males and females are affected and there is sometimes a family history.

How could I find out whether my child or I have EPP?

By seeking medical advice. The relevant history and, more importantly, special blood tests allow the doctor to decide whether EPP is the diagnosis or not.

How will this condition affect me?

Usually the effect is of a burning, painful discomfort, although occasionally skin thickening and mild scarring can occur on commonly photosensitive areas, such as the face and the backs of the hands.

I have no affected relatives; could I have the condition?

Yes. As there is not always a family history of the disease, it is possible to be the only affected family member. In many families, an inherited trait is carried through the mother and father, who may not have the condition.

The inheritance pattern of EPP is complicated and not yet clearly understood.

Will it ever clear of its own accord?

Yes, there is a significant chance that your condition will settle as you grow older. Some individuals, however, have it forever.

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