Acute Porphyrias: Diagnosis and Management

AYALEW TEFFERI, JOSEPH P. COLGAN, LAWRENCE A. SOLBERG

Research output: Contribution to journalReview article

19 Scopus citations

Abstract

To summarize recent information about acute porphyrias and to provide clinicians with a practical diagnostic and management approach, we reviewed the pertinent literature and our clinical experience. The acute porphyrias are characterized by recurrent attacks of abdominal pain with or without additional manifestations of autonomic dysfunction or neuropsychiatric symptoms. On the basis of the potential of these disorders to affect the skin, they are further subdivided into neuroporphyrias and neurocutaneous porphyrias. During acute attacks, acute porphyria is always associated with increased levels of urinary porphyrin precursors. Between attacks, patients with neurocutaneous porphyrias may have normal urinary porphyrins; therefore, stool porphyrins, which are invariably increased, are the most helpful. Latent disease can be detected by the measurement of either urinary and stool porphyrins or cellular enzyme activity. Specific intravenous therapy with hematin has resulted in biochemical remissions, but its clinical benefit remains controversial. Measurement of urinary and stool porphyrins or porphyrin precursors is critical for the diagnosis of clinically overt acute porphyria. Enzyme assays are helpful in supporting the diagnosis but are best used to identify family members with latent disease. Preventive measures and supportive therapy are the mainstays of current management of patients with porphyria.

Original languageEnglish (US)
Pages (from-to)991-995
Number of pages5
JournalMayo Clinic proceedings
Volume69
Issue number10
DOIs
StatePublished - Jan 1 1994

Keywords

  • AIP
  • ALA
  • HCP
  • PBG
  • PP
  • VP
  • acute intermittent porphyria
  • hereditary coproporphyria
  • plumboporphyria
  • porphobilinogen
  • variegate porphyria
  • δ-aminolevulinic acid

ASJC Scopus subject areas

  • Medicine(all)

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