Acute hepatic porphyrias

Porphyrias are inborn errors of metabolism that cause deficient activity within the eight‑step heme synthetic pathway.1

The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms.1

The 4 acute hepatic porphyrias are:2

  • δ‑aminolevulinate dehydratase deficiency porphyria (a very rare autosomal recessive disorder)
  • Acute intermittent porphyria (autosomal dominant)
  • Hereditary coproporphyria (autosomal dominant)
  • Variegate porphyria (autosomal dominant)

Their diagnoses are often missed or delayed because the clinical symptoms mimic other more common disorders.1


  1. Wang B, Rudnick S, Cengia B, et al. Acute Hepatic Porphyrias: Review and Recent Progress. Hepatol Commun 2019;3(2):193‑206.
  2. Bonkovsky HL, Maddukuri VC, Yazici C, Anderson KE, Bissell M, Bloomer JR, et al. Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium. Am J Med 2014;127:1233‑1241.