An Extremely Rare Case of Congenital Erythropoietic Porphyria Diagnosed In Adulthood with Unusual Life Threatening Complications
Journal Title: Journal of Medical Science And clinical Research - Year 2017, Vol 5, Issue 5
Abstract
Congenital erythropoietic porphyria (CEP) is an autosomal recessive inborn error of heme synthesis that results from the markedly deficient activity of uroporphyrinogen III synthase (UROS). We describe a 44-yearold male with history of passing red urine since infancy, progressive blistering and scarring of the skin and severe hemolytic anemia. After years of skin damage, his face is mutilated; hands are deformed, he has scleromalacia and prominent areas of hypertrichosis and skin darkening. Patient presented to us in shock with severe anaemia and derangement of haepatorenal and coagulation profile. Uroporphyrin 1 and coproporphyin 1 levels were markedly raised in urine. Patient was stabilized with intravenous fluids, hematinics and blood transfusion. Inspite of conservative treatment and photoprotective measures patient’s lesions are progressing. Bone marrow transplantation and/or gene therapy are proposed as the next steps in his treatment.
Authors and Affiliations
Dr Sandhya Chauhan
Keywords
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