What’s erythropoietic protoporphyria?

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Erythropoietic protoporphyria is a genetic disorder that causes extreme sensitivity to sunlight, resulting in skin irritation, inflammation, and pain. It can also cause liver and gallbladder complications. There is no cure, but minimizing sun exposure and regular medical checkups can help manage symptoms. The disorder is caused by a mutation that impairs the function of an enzyme called ferrochelatase, leading to a buildup of protoporphyrin in the body. Protective clothing, sunscreen, and tinted windows can help prevent overexposure to sunlight. Surgery may be needed for liver complications.

Erythropoietic protoporphyria is a genetic disorder that predisposes people to extreme sensitivity to sunlight. The condition causes irritation, inflammation, swelling, and pain of the exposed skin. Permanent blisters and scars may develop on the hands or face. Also, some children and adults with erythropoietic protoporphyria have potentially serious complications of the gallbladder and liver. There is no clear cure for the disorder, but taking steps to minimize sun exposure and getting regular medical checkups can limit your risks of serious health problems.

Decades of genetic research have uncovered the underlying cause of erythropoietic protoporphyria. An inherited mutation impairs the function of an enzyme called ferrochelatase, which normally helps build hemoglobin and other blood components. The abnormal enzymes cause a buildup of protoporphyrin in the bone marrow, bloodstream, and body tissues. Protoporphyrin is extremely sensitive to light, and accumulations near the skin trigger inflammation when the body is exposed to sunlight.

When a person with erythropoietic protoporphyria spends a short amount of time in the sun, their skin can feel itchy and tender. Spending more than an hour outdoors can cause redness, swelling and painful burning sensations. The longer a person stays in the sun, the worse the symptoms tend to get. Multiple and prolonged periods of exposure to sunlight can cause blisters and open lesions that eventually become scars.

A small number of people with erythropoietic protoporphyria develop liver problems. Protoporphyrin can accumulate in bile and liver tissue, causing gallstones or minor hepatitis. Eventual liver failure is possible if the underlying condition is not diagnosed and treated properly.

A doctor can diagnose erythropoietic protoporphyria by carefully evaluating your symptoms and doing a series of blood and bile tests. If unusually high levels of protoporphyrin are found, other problems such as eczema, allergies, and lupus can be ruled out. Ultrasounds and X-rays may also be done if your doctor suspects liver damage or gallstones.

Prevention of overexposure to sunlight is the key component of treating erythropoietic protoporphyria. Patients are asked to wear protective clothing, apply sunscreen, and limit the time they spend outdoors. Additionally, they may be encouraged to tint the windows of their cars and homes to further prevent exposure. Topical medications may be prescribed to relieve itching and burning symptoms, and oral medications such as beta-carotene might be used to reduce sensitivity to light.

If a patient has gallstones or other liver complications, surgery may be needed to repair the problem and restore normal functioning. Most people are able to recover from acute liver problems after surgery, but there are risks that stones or tissue inflammation could return in the future. Regular checkups are important to make sure symptoms are caught before they become severe.

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