Porphyria overview

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

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## Overview

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Porphyrias are a group of inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). They are broadly classified as hepatic porphyrias or erythropoietic porphyrias, based on the site of the overproduction and mainly accumulation of the porphyrins (or their chemical precursors). They manifest with either skin problems or with neurological complications (or occasionally both).

## Historical Perspective

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## Classification

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## Pathophysiology

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## Causes

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## Differentiating Porphyria from Other Diseases

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## Epidemiology and Demographics

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## Risk Factors

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## Screening

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## Natural History, Complications, and Prognosis

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## Diagnosis

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### Diagnostic Criteria

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### History and Symptoms

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### Physical Examination

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### Laboratory Findings

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### Imaging Findings

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### Other Diagnostic Studies

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## Treatment

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### Medical Therapy

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### Surgery

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### Prevention

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## References

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