Hereditary Coproporphyria Differential Diagnoses

Updated: Dec 27, 2017
  • Author: Thomas G DeLoughery, MD; Chief Editor: Emmanuel C Besa, MD  more...
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DDx

Diagnostic Considerations

In a retrospective analysis of 467 patients, Whatley et al examined the diagnostic accuracy of plasma fluorescence scanning, fecal porphyrin analysis, and porphobilinogen deaminase (PBGD) assay in differentiating between coproporphyria, acute intermittent porphyria (AIP), and variegate porphyria (VP). [5, 6] The authors determined that the specificity and sensitivity of the fecal coproporphyrin isomer ratio and of the fluorescence emission peak's wavelength were great enough to differentiate between the 3 conditions. They also found that in mutation-negative patients, the accuracy of deoxyribonucleic acid (DNA) analysis followed by PBGD assay was greater than that for either test individually, in the diagnosis or exclusion of AIP.

Differential Diagnoses