investigations

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  • urine - marked increase of porphobilinogen (PBG) during an acute attack which is usually normal after the acute episode (cf. acute intermittent porphyria). ALA and uroporphyrin are also increased during an acute attack but may be normal/slightly increased during remission (1)
  • stool - marked increase in protoporphyrin and coproporphyrin during an attack, remission or only with skin manifestations
  • blood - porphyrin levels not increased
  • plasma fluorescence scanning - shows a fluorescence emission peak of 626–628 nm (1)

Reference:

Last reviewed 01/2018