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Semin Liver Dis 1998; 18(1): 57-65
DOI: 10.1055/s-2007-1007141
ORIGINAL ARTICLE

© 1998 by Thieme Medical Publishers, Inc.

Diagnosis of Porphyric Syndromes: A Practical Approach in the Era of Molecular Biology

Herbert L. Bonkovsky, Graham F. Barnard
  • Division of Digestive Disease and Nutrition, and the Center for Study of Disorders of Iron and Porphyrin Metabolism, University of Massachusetts Medical Center, Worcester, Massachusetts
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Publication History

Publication Date:
17 March 2008 (online)

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ABSTRACT

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 vesiculo-bullous 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.

KEY WORDS

5-aminolevulinate - diagnostic testing - enzymatic assays - lead poisoning - molecular diagnostic studies - porphobilinogen - porphyrias - porphyrins

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