EPP (Erythropoetic Protoporphyria): A life without sun

EPP (Erythropoetic Protoporphyria) is a rare hereditary condition. About 200 people in the Netherlands suffer from this condition. People with this condition cannot tolerate sunlight. When they are exposed to sunlight they experience a lot of pain. How is it possible that these people cannot stand the sun?

What is Erythropoietic Protoporphyria?

EPP is a metabolic disease, it is hereditary and someone with the disease cannot tolerate sunlight. In someone without EPP, protoporphyrin is converted by an enzyme into another substance. Protoporphyrin is not converted in people with EPP, which is why they have too much protoporphyrin in their blood. The protoporphyrin can then spread throughout the body, especially to the skin, the gallbladder and sometimes also the liver. Protoporphyrin absorbs light, which causes inflammation of the skin. The skin may then become red, itchy, swollen and painful. One in twenty people who suffer from EPP also eventually develop damage to the liver.

How does the inheritance of EPP take place?

Every person has two genes in every cell of his or her body for the enzyme that converts protoporphyrin into another substance. One of those genes comes from the mother, the other gene comes from the father. EPP can be inherited in different ways. Sometimes it happens autosomal recessive and sometimes autosomal dominant. Autosomal recessive means that a person only suffers from the condition if he or she has received the gene for EPP from both mother and father. Autosomal dominant means that you suffer from the condition if you receive the gene for EPP from one of the parents. So you get the gene that causes EPP from one of the parents, and you get the healthy gene from the other parent.

Therapy

Unfortunately, EPP cannot be cured. There are some treatments available to reduce the symptoms. It is important to protect the skin as best as possible against light. This is best done by wearing clothing that covers most of the skin. There are also special films available to stick to the window, this way the sunlight is blocked. Because some people suffering from EPP are also sensitive to some forms of artificial light, the lamps must be taken into account. LED lamps are then the best choice. Some creams (creams containing zinc oxide or titanium oxide) help to block the light. In addition, light therapy and beta-carotene could reduce mild hypersensitivity.
Because people with EPP often have a vitamin D deficiency, it is necessary that they take it.

Psychosocial problems

Because EPP is not always visible, someone who suffers from it is not always taken seriously. This sometimes results in someone with EPP wanting to behave as normally as possible and still going outside, against their better judgment. In addition, it is very difficult for people with EPP to have social contacts. They can’t enjoy a day at the beach. And joining a sports club is only possible if it concerns an indoor sport. In this way, people suffering from EPP can end up isolated.

I have EPP

Do you have EPP? On the site http://www.epp.info/ you will find information about EPP and you can get in touch with people who also have EPP.