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

References:

  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.