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Erythropoietic Protoporphyria is a medical condition, where protoporphyrin builds up in the blood plasma, red blood cells, and bone marrow, resulting in skin photosensitivity. In such jereditary porphyries, deficiency of the enzyme called ferrochelatase, occurs. The lack of ferrochelatase enzyme, which is inherited from 1 parent, results in protoporphyrin to concentrate in the blood and bone marrow. Excessive amounts of protoporphyrin passes through the person’s liver, into the bile and is excreted in the stool. The symptoms of erythropoietic protoporphyria generally begin in childhood. Swelling and pain progress soon after the person’s skin is exposed to sunlight. A doctor does not always recognize the disease, because of scarring and blistering is unusual. Diagnosis of erythropoietic protoporphyria is difficult to determine because protoporphyrin is not excreted in the urine and is very insoluble. The diagnoses made when excessive photoporphyrin levels are discovered in red blood cells and plasma. The erythropoietic protoporphyria severity varies significantly from one individual to another, even within the members of the family, for unknown reasons. One individual can be severely affected by this disease, while a close relative with similar gene defect can have no or little porphyrins increase without no symptoms. The treatment of erythropoietic protoporphyria consists of avoiding sunlight exposure. Beta-carotenes, when used in proper amounts to result in slight skin yellowing is particularly effective, as it makes many individuals more tolerant of sunlight. Individuals, who have erythropoietic protoporphyria, may progress gallstones consisting of protoporphyrin; such gallstones can require surgical removal. A more serious complication is damage of the liver, which in some cases requires liver transplantation.
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