Chapter 122: Hepatoerythropoietic Porphyria

HEPATOERYTHROPOIETIC PORPHYRIA

Therapeutic Approach

Hepatoerythropoietic porphyria (HEP) is the homozygous form of familial (type 2) porphyria cutanea tarda (PCT), resulting from inheritance of a hepatic uroporphyrinogen decarboxylase (UROD) mutation from each parent. HEP is characterized by blistering skin lesions, hypertrichosis, scarring, and hemolytic anemia. Severity varies widely, with some resembling PCT and more severe cases similar to congenital erythropoietic porphyria (CEP). Protection from sunlight is the only intervention known to improve symptoms reliably. Therapies typically used in PCT, such as phlebotomy or low-dose hydroxychloroquine, are not effective. See Table 122-1.

Levels of evidence are based on the Journal of the American Academy of Dermatology guidelines: level IA evidence includes evidence from meta-analysis of randomized controlled trials; level IB evidence includes evidence from ≥1 randomized controlled trial; level IIA evidence includes evidence from ≥1 controlled study without randomization; level IIB evidence includes evidence from ≥1 other type of experimental study; level III evidence includes evidence from nonexperimental descriptive studies, such as comparative studies, correlation studies, and case control studies; and level IV evidence includes evidence from expert committee reports or opinions or clinical experience of respected authorities, or both.

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