than 10 its normal levels. Affected infants may have extremely fragile skin that that can peel or blister on minimal impact is common. The manifestations of HEP resemble. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait. Last updated April 24, 2018, hepatoerythropoietic Porphyria (HEP) is a very rare form of hepatic porphyria that manifests as a skin condition. DNA testing to identify the specific mutations in an individuals urod genes is the most specific and sensitive test to confirm the diagnosis of HEP.
Anemia associated with HEP may be mild or severe. Fecal analysis may be necessary, particularly for late-onset cases. Epoetin for severe anemia in hepatoerythropoietic porphyria.
Affected offspring have two copies of the defective gene, one inherited from each parent. Hepatoerythropoietic Porphyria is described as the familial form of Porphyria Cutanea Tarda (or f-PCT).
In some infants and children, tiny skin bumps resembling milia may be observed. Help us create better content, what was the most helpful aspect of this article? H.gov/pubmed/12071824 Horina JH, Wolf. If susceptibility factors are present, heterozygotes are at increased risk of developing signs and symptoms of F-PCT. After exposure to light, the photo-activated porphyrins in the skin cause bullae (blistering) and the fluid-filled sacs rupture, and the lesions often get infected.
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