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Erythropoietic Protoporphyria ( EPP ) is a rarefied inherited porphyria in which there is accumulation of a specific porphyrin , protoporphyrin , due to unreasonable production from the bone marrow . The cause of this is lack of the enzyme ferrochelatase , which lead to accumulation of Protoporphyrin in the red blood cells , liverand theskinresulting in skin predisposition to sunshine . EPP commonly starts in puerility . It affects both men and woman every bit .
There is no remedy for Erythropoietic Protoporphyria ( EPP ) . Treatment aims at manage the symptoms so that the affected role can live a normal spirit as much as potential .
Causes of Erythropoietic Protoporphyria (EPP)
The drive is deficiency of a converting enzyme , ferrochelatase , the map of which is to oblige the iron to protoporphyrin in edict to bring forth hemoglobin . The famine of this enzyme leads to increase levels of protoporphyrin in the blood . When the blood circulate in the skin , the protoporphyrin absorbs the full force out of the sun guide to generation of a chemic chemical reaction , which can damage the skirt tissue . This causesburning painor itching eccentric of sensation . If the blood vas are involve , then there can be a slight leakage of blood resulting in swelling of the hide .
Signs and Symptoms of Erythropoietic Protoporphyria (EPP)
Symptoms vary from patient to patient in severity and commonly comprise of :
Investigations for Erythropoietic Protoporphyria (EPP)
Treatment for Erythropoietic Protoporphyria (EPP)
As of now , there is no known therapeutic for Erythropoietic Protoporphyria Treatment is done to manage this condition well by render the skin auspices from the sunlight , so it can tolerate it better .
Medications Given in Erythropoietic Protoporphyria (EPP) Include:
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