Type of disease: Rare conditions
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: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.