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Hepatoerythropoietic Porphyria.

Authors

Liu LU, Phillips J, Bonkovsky H; Porphyrias Consortium of the Rare Diseases Clinical Research Network.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2013 Oct 31 [updated 2016 Dec 22].

Excerpt

CLINICAL CHARACTERISTICS:

Hepatoerythropoietic porphyria (HEP) is characterized by blistering skin lesions, hypertrichosis, and scarring over the affected skin areas. Disease manifestations occur during infancy or childhood and with similar frequency in females and males. Individuals with HEP are not reported to be at increased risk for hepatocellular carcinoma.

DIAGNOSIS/TESTING:

The diagnosis of HEP is established in a proband by identification of elevated porphyrins in the urine (predominantly uroporphyrin and heptacarboxylporphyrin) and significantly increased erythrocyte zinc protoporphyrin. Identification of biallelic pathogenic variants in UROD confirms the diagnosis.

MANAGEMENT:

Treatment of manifestations: Avoidance of sunlight (including the long-wave ultraviolet light sunlight that passes through window glass) by use of protective clothing and topical application of opaque sunscreens. Phlebotomy and chloroquine, which are usually effective in treating familial porphyria cutanea tarda, are generally less effective in individuals with HEP. Prevention of primary manifestations: Protection from sunlight. Agents/circumstances to avoid: Exposure to sunlight in persons of all ages. Older individuals should avoid known precipitating factors: alcohol, oral estrogen, smoking, and drugs that induce the cytochrome P450s. Evaluation of relatives at risk: If the family-specific UROD pathogenic variants are known, clarify the genetic status of at-risk relatives so that those with biallelic UROD pathogenic variants can be counseled regarding sun protection and avoidance of known susceptibility factors.

GENETIC COUNSELING:

HEP is inherited in an autosomal recessive manner. Each sib of an affected individual has a 25% chance of being affected, a 50% chance of being heterozygous and at risk of developing familial porphyria cutanea tarda, and a 25% chance of being unaffected and not heterozygous. Once the UROD pathogenic variants have been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic diagnosis for HEP are possible.

Copyright © 1993-2017, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

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