EP is primarily a disorder of bone marrow heme synthesis. It occurs most often in whites but can also occur in people of any origin. Erythropoietic protoporphyria occurs equally in men and women. EP occurs in both males and females with approximately equal frequencies. More than 85 different mutations of the ferrochelatase gene have been identified to date. EP typically occurs in infants or young children. EPP is inherited as an autosomal dominant trait with poor penetrance. Swelling, burning, itching, and redness of the skin may appear during or after exposure to sunlight, including sunlight that passes through window glass. This can cause mild to severe burning pain on sun-exposed areas of the skin.
EP is caused by autosomal trait inheritance of genes that encode abnormal uroporphyrinogen III synthase enzyme protein. About 10% develop more severe liver disease, presenting with malaise, pain under the ribs on the right, jaundice and increasing photosensitivity. Gallstones cause characteristic abdominal pain. Liver damage may lead to increasing liver failure, with jaundice and enlargement of the spleen. Protect the skin from exposure to operating lamps during a surgical procedure. Avoid unnecessary exposure to sunlight and wear protective clothing and wide-brimmed hats. Narrowband UVB phototherapy increases melanin content and induces skin thickening so may reduce sun sensitivity. Cysteine 500mg twice daily reduces photosensitivity
Topical lubrication of the eyes improves the dry eye symptoms and may stabilize visual function. Colestyramine reduces photosensitivity and hepatic protoporphyrin content. Magnesium sulfate and bromides have also been used in porphyria seizures. Beta-carotene, when taken in sufficient amounts to cause slight yellowing of the skin, makes many people more tolerant of sunlight; however, sunlight should still be avoided. People who develop gallstones that contain protoporphyrin may need to have them surgically removed. Topical lubrication of the eyes improves the dry eye symptoms and may stabilize visual function. Narrowband UVB phototherapy increases melanin content and induces skin thickening so may reduce sun sensitivity.
Erythropoietic Protoporphyria - Prevention and Treatment Tips
4. Beta-carotene, when taken in sufficient amounts to cause slight yellowing of the skin.
5. Sunlight avoidance is mandatory.
6. Sun-protective clothing, hats, and physical sunscreens should be used during daily activities.
7. Colestyramine reduces photosensitivity and hepatic protoporphyrin content.
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