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Hepatoerythropoietic porphyria (HEP) is an inherited cutaneous porphyria caused by a deficiency of the enzyme uroporphyrinogen decarboxylase. It is the autosomal recessive form of familial Porphyria Cutanea Tarda (f-PCT). The manifestations of HEP resemble Congenital Erythropoietic Porphyria (CEP), with symptoms of skin blistering that usually begin in infancy. Treatment may include scheduled phlebotomy and low dose hydroxychloroquine.
Source: GARD Last updated on 05-01-20
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