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Hepatoerythropoietic porphyria in Adult
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Hepatoerythropoietic porphyria in Adult

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Contributors: Carla Casulo MD
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Synopsis

Hepatoerythropoietic porphyria (HEP) is a very rare autosomal recessive form of chronic hepatic porphyria (see also porphyria cutanea tarda) caused by a deficiency of uroporphyrinogen decarboxylase and resulting in excess uroporphyrin in the liver and urine. HEP is characterized by bullous cutaneous lesions on sun-exposed skin (usually face and hands), hypertrichosis, scarring, and red urine. Other commons signs and symptoms include hemolytic anemia, hyperpigmented skin, and splenomegaly. Onset is typically during infancy and early childhood.

Management includes sheltering skin from sunlight, blood transfusions for anemia, and rarely hydroxyurea and splenectomy. Individuals should avoid known triggering agents, such as smoking, alcohol, and certain hormones and drugs.

For more information, see OMIM.

Codes

ICD10CM:
E80.0 – Hereditary erythropoietic porphyria

SNOMEDCT:
111386004  – Homozygous porphyria cutanea tarda

Differential Diagnosis & Pitfalls

Best Tests

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Therapy

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References

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Last Reviewed: 03/09/2017
Last Updated: 03/29/2017
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Hepatoerythropoietic porphyria in Adult
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Hepatoerythropoietic porphyria : Bullae, Hemolytic anemia, Hyperpigmented patch, Hypertrichosis, Photosensitivity, Atrophic scar, Splenomegaly
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