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Am J Clin Pathol. 2003 Jun;119 Suppl:S86-93.

Guide to porphyrias. A historical and clinical perspective.

Author information

  • 1Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.

Abstract

Porphyrias are a group of inherited disorders of heme biosynthesis classified as neurovisceral, cutaneous, or mixed. A deficiency of any of the 8 enzymes in the biosynthetic pathway can lead to a variety of clinical symptoms. Classification depends on the defective enzyme. Porphyrias often are misdiagnosed because patients have vague symptoms. However, acute forms of porphyria can be life-threatening, so it is important to make an accurate diagnosis and initiate proper medical management. We discuss the history, pathogenesis, clinical manifestations, diagnosis, and treatment of porphyrias and then briefly describe the 8 types of porphyrias and their distinguishing features.

PMID:
12951846
[PubMed - indexed for MEDLINE]
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