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The porphyrias are disorders of heme biosynthesis, with each type of porphyria representing a defect of a different enzyme in the biosynthetic pathway. The acute hepatic porphyrias include acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and 5-aminolevulinic acid (ALA)–dehydratase porphyria (ADP). The non-acute porphyrias consist of porphyria cutanea tarda (PCT), erythropoietic protoporphyria (EPP), X-linked protoporphyria (XLP), and congenital erythropoietic porphyria (CEP). In this chapter, we describe the diagnosis and management of the porphyrias, highlighting recently approved treatments.

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Porphyrias

  • 章节

  • 发表日期：

    2026年

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  • Rebecca K. Leaf,
  • Amy K. Dickey

摘要

The porphyrias are disorders of heme biosynthesis, with each type of porphyria representing a defect of a different enzyme in the biosynthetic pathway. The acute hepatic porphyrias include acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and 5-aminolevulinic acid (ALA)–dehydratase porphyria (ADP). The non-acute porphyrias consist of porphyria cutanea tarda (PCT), erythropoietic protoporphyria (EPP), X-linked protoporphyria (XLP), and congenital erythropoietic porphyria (CEP). In this chapter, we describe the diagnosis and management of the porphyrias, highlighting recently approved treatments.