What is the role of genetic mutation analysis in the workup of acute intermittent porphyria (AIP)?

Updated: Jul 08, 2020
  • Author: Thomas G DeLoughery, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Attacks of AIP are clinically indistinguishable from those of hereditary coproporphyria and variegate porphyria, and there are few evidence-based diagnostic strategies for these conditions. Whatley et al conducted a retrospective analysis of 467 unrelated patients to determine the diagnostic sensitivity of mutation analysis of the HMBS, CPOX, or PPOX gene. [12] Findings included the following [12] :

  • In the presence of increased porphobilinogen excretion, plasma fluorescence scanning and the coproporphyrin ratio can identify the type of acute porphyria, with rare exceptions.

  • In cases in which the porphobilinogen, 5-aminolevulinate, and porphyrin analyses are within reference intervals and in which there is high suspicion of a previous illness caused by an acute porphyria, mutation analysis of the HMBS gene followed by porphobilinogen deaminase assay is an effective strategy for diagnosis or exclusion of AIP.

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