Faecal Porphyrins as a Diagnostic Index between Acute Intermittent Porphyria and Porphyria Variegata

Abstract

Wetterberg, L., Haeger-Aronsen, Birgitta & Stathers, G. Faecal Porphyrins as a Diagnostic Index between Acute Intermittent Porphyria and Porphyria Variegata. Scand. J. clin. Lab. Invest. 22, 131-136, 1968. In connection with a neuro-psychiatric and genetic investigation of 40 Swedish families with supposed acute intermittent porphyria (AIP) urine and faecal samples were obtained from 116 siblings. Sixty-five were found to have manifest porphyria, 20 were latent and 31 unaffected. Three propositi were found to have distinctly higher values of faecal porphyrins than the remaining 113 cases. Genealogic studies showed that two of the propositi belonged to the same pedigree (in 1773). Their porphyrin excretion patterns were those usually found in porphyria variegata (PV). The family of the third propositus had a porphyrin excretion pattern of the type seen in hereditary coproporphyria.

In patients with AIP there appeared to be a grouping on the basis of high urinary porphyrin precursors-low faecal porphyrins, and vice versa.

The primary result of the investigation was that faecal porphyrin levels were found to be distinctly higher in PV than in AIP.

Key Words:

• Porphyrin
• porphyria
• faeces