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Erythropoietic Protoporphyria – A Genetic Disorder

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Erythropoietic Protoporphyria

Photosensitivity in Erythropoietic Protoporphyria

Erythropoietic Protoporphyria (EPP) is a genetic disorder that involves the presence of an elevated protoporphyrin IX in the blood cells and the plasma. This abnormal levels of protoporphyrin IX cause extreme sensitivity to visible light. The condition usually manifests during the early childhood and may be present throughout a person's lifetime. EPP is a form of porphyria that is most common in children. EPP is characterized by a painful sensitivity to light.

Erythropoietic Protoporphyria disease features

EPP involves higher levels of photosensitivity that usually begins to manifest in the early childhood or during infancy. One will experience the symptoms of burning, pain and tingling sensations upon sunlight exposure. Itching is also present which is usually accompanied by redness and inflammation. The initial reaction to sunlight appears within minutes from the time of exposure and the symptoms may persist within hours or days. The symptoms are often described as phototoxic reactions of the skin due to light or sunlight sensitivity. Children with EPP will usually have the condition throughout their lifetime.

Liver dysfunction is often diagnosed among the 20% to 30% of individuals with EPP. An elevated liver enzyme is present and about 5% of those with this condition may acquire a more serious form of liver disease that may be accompanied by the manifestation of motor neuropathy. In the absence of the complication of a liver disease, the morbidity of the EPP is low without any significant effect on the life expectancy.

Diagnosis of Erythropoietic Protoporphyria

An increase level of the free erythrocyte protoporphyrin or FECH is indicative of EPP. The genetic mutation involved in the EPP often confirms the impression of EPP. The presence of non-blistering photosensitivity also confirms the diagnosis of EPP, especially when the condition is already present during childhood.

Treatment for Erythropoietic Protoporphyria

There is no cure for EPP. Preventive management of the condition is the mainstay form of treatment approach for EPP. Because there is no FDA approved medication and treatment for the disease, a conservative approach in management is often used. The body is not responding to narcotic analgesics and relief from pain is often difficult to achieve.  The best preventive measures against EPP involves reducing the exposure to sunlight by wearing protective clothing that will prevent the exposure of the skin to sunlight.

Adjusting to living a normal life is often difficult for a person with EPP. Most of the time, it is hard to carry out day time activities because one needs to avoid sunlight exposure. This can affect a person's employment, recreational activities and other forms of lifestyle enjoyment. Even fluorescent lighting should be avoided if you have an EPP. Wearing protective clothes like long sleeved clothing, gloves, a broad beam hat, and trousers can help avoid light exposure of the skin.

Beta carotene is also known to help reduce the sensitivity of the skin to light exposure. It produces reactive oxygen products that protect the body against the adverse effects of increased production of protoporphyrin when activated by exposure to light.

Coping with EPP

Persons with EPP should have a constant monitoring of their liver because they are at higher risk of developing liver diseases. They should avoid alcohol intake in their diet, as well as taking anesthetics drugs that can result in cholestasis. Yearly monitoring of the condition is recommended to monitor the health of the liver. Because avoiding the sunlight is important, the person with EPP should be taking a vitamin D supplement which is necessary for bone health. Some doctors also recommend the administration of hepatitis A and B immunization in person with Erythropoietic Protoporphyria.