Erythropoietic Protoporphyria is a Rare Inherited Disorder

Erythropoietic Protoporphyria, also known as EPP is a rare inherited disorder. This disorder causes the patient to have a decreased activity of the enzyme known as protoporphyria IX. This enzyme is located in the red blood cells. This disorder causes the build-up of the protoporphyrin, which in turn causes the skin to be extremely sensitive to sunlight. Those with this disorder often experience pain when they are exposed to the sun or high-powered artificial light. In some people, the pain is extremely severe. This disorder is still extremely rare. Typically, only 1 in 74,300 people is infected. It is typically seen most often in children. This disorder will affect both men and women. At this time, there is no known cure for erythropoietic protoporphyria, but there are treatment options that can help to manage the condition.

Causes of Erythropoietic Protoporphyria

This disorder is caused by mutations in the gene known as ferrochelatase. In some cases, it may be caused by a mutation in other genes as well. This gene is passed down from both parents. One parent will have a stronger mutation, and the other parent will have a weaker mutation. The child will receive both mutations, but the stronger one will prevail. A parent with a strong mutation will not have any symptoms if they do not also possess a weaker mutation. They will just be the carrier for the disorder. This gene mutation will cause a buildup of protoporphyrin IX. This will build up in the plasma and red blood cells of the body. It will also build up in the liver and bone marrow.

Symptoms of Erythropoietic Protoporphyria

The main symptom that is associated with EPP is photosensitivity. A person with this disorder will experience symptoms of itching, burning, swelling, and pain when exposed to the sun or strong artificial lighting. The pain can be severe for many people. Symptoms can be felt wherever there has been sun exposure, but the most commonly affected areas include the arms, hands, and face.

Some people may have only mild symptoms, while others will have more severe symptoms that may affect their day to day life. For most people, the symptoms will only last for around 24 hours. Typically, people with EPP do not suffer long-lasting skin damage. It is also important to note that people with this disorder can also experience liver damage. This is from the build-up of protoporphyrin in the body. Most people do not experience severe liver damage from this disorder. Complications are seen in about five percent of the population with EPP. Some people may also experience problems with their gallbladder, gallstones and gallbladder inflammation.

Treatment Options

The best course of treatment for those with EPP is for them to lessen their exposure to the sun and fluorescent lighting. Staying indoors is not always an option, so it is important to use sun protection whenever a person goes out. Sunscreen, wearing clothing that covers much of the body, wearing hats, and sunglasses are imperative. If a person has the disorder, they should also consider tinting the windows in their vehicles as well as their homes. There are some supplements and drugs that may help this condition. Those with EPP will also have to be careful when they take certain prescription drugs. There are drugs out there that can increase photosensitivity problems that will only enhance the symptoms of EPP. If a patient has EPP and needs to have surgery, special care will have to be taken due to the strong lighting that is used in overhead lighting.


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