Acute hepatic porphyrias: Recommendations for diagnosis and management with real-world examples

Akshata Moghe, Amy Dickey, Angelika Erwin, Rebecca K. Leaf, Alan O'Brien, John G. Quigley, Manish Thapar, Karl E. Anderson

Research output: Contribution to journalComment/debatepeer-review


Acute hepatic porphyria (AHP) is a group of four rare inherited diseases, each resulting from a deficiency in a distinct enzyme in the heme biosynthetic pathway. Characterized by acute neurovisceral symptoms that may mimic other medical and psychiatric conditions, lack of recognition of the disease often leads to a delay in diagnosis and initiation of effective treatment. Biochemical testing for pathway intermediates that accumulate when the disease is active forms the basis for screening and establishing a diagnosis. Subsequent genetic analysis identifies the pathogenic variant, supporting screening of family members and genetic counseling. Management of AHP involves avoidance of known exogenous and hormonal triggers, symptomatic treatment, and prevention of recurrent attacks. Here we describe six case studies from our own real-world experience to highlight current recommendations and challenges associated with the diagnosis and long-term management of the disease.

Original languageEnglish (US)
Article number107670
JournalMolecular Genetics and Metabolism
Issue number3
StatePublished - Nov 2023


  • Heme
  • Porphobilinogen
  • Porphyrias
  • Porphyrins
  • siRNA
  • δ-Aminolevulinic acid

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology


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