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Abstract
We wish to present two cases of variegate porphyria with faecal isocoproporphyrin. It is not expected for VP patients to demonstrate the presence of faecal isocoproporphyrin, and textbooks state that this is pathognomonic for porphyria cutanea tarda (PCT). Both of our patients have a clear diagnosis of variegate porphyria (VP) clinically, on Plasma Spectrofluorimetry (Peptide X) and genetic testing. The authors postulate that patients with acute hepatic porphyrias, including VP, could express faecal isocoproporphyrin in the setting of liver dysfunction or hepatic iron overload. Both patients had mildly elevated liver function tests. When the one patient‘s liver function normalised and iron levels dropped, the faecal isocoproporphyrin was no longer able to be detected. The other patient has remained positive for faecal isocoproporphyrin over time, and is completely asymptomatic, in keeping with latent VP.
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