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ISSN 2063-5346
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UNDERSTANDING ERYTHROPOIETIC PROTOPORPHYRIA(EPP) IS ESSENTIAL IN AN INDIAN CONTEXT. A PROSPECTIVE REVIEW

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Dr Mohan Kale, Dr Rishabh Singhal, Dr Neha Deokar
ยป doi: 10.48047/ecb/2023.12.sa1.510

Abstract

In people with EPP, a genetic porphyrin metabolism disorder, protoporphyrin levels are high in RBC, plasma, and feces. The disease appears in infants with varied photosensitivity. There is no animal model where high erythroid protoporphyrin levels may be produced under controlled circumstances to imitate human disease. EPP is a biochemically separate porphyrin and heme production disease. Patients acquire extreme, immediate photosensitivity to sunlight and other intense visible light. Gallstones often affect young people. Studies proved that liver disease, which may lead to pigmentary cirrhosis and liver transplantation, affects 1โ€“3% of people. This is due to the fact that excess PP, which may be hepatotoxic, is eliminated through hepatocyte absorption and bile excretion. Since PP overproduction is largely due to red blood cell production, bone marrow or stem cell transplantation is needed to cure the disease. More longitudinal researches are needed in future.

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