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
- Wang B, Rudnick S, Cengia B, et al. Acute Hepatic Porphyrias: Review and Recent Progress. Hepatol Commun 2019;3(2):193‑206.
- 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.