Diagnosis of porphyric syndromes: a practical approach in the era of molecular biology

Semin Liver Dis. 1998;18(1):57-65. doi: 10.1055/s-2007-1007141.


For cost-effective diagnosis of porphyric syndromes, a logical stepwise approach is best. If neurovisceral features suggest an acute porphyric syndrome, a rapid screening test for urinary porphobilinogen should be performed. If clinical features suggest a cutaneous porphyria, then for solar urticaria and acute photosensitivity (suggesting protoporphyria) screening tests for increased erythrocytic porphyrins should be done; for vesiculobullous formation (suggesting porphyria cutanea tarda, hereditary coproporphyria, or variegate porphyria) a screening test for urinary porphyrins should be done. Positive screening tests should be confirmed with targeted quantitative testing. Enzymatic assays and DNA-based testing are not usually needed for rapid diagnosis or management of symptomatic subjects, but they are useful for kindred evaluation and genetic counseling.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Acute Disease
  • Diagnosis, Differential
  • Genetic Techniques
  • Humans
  • Porphyrias / diagnosis*
  • Porphyrins / analysis


  • Porphyrins