Porphyria overview
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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Overview
Overview
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
Historical Perspective
Classification
Classification
Pathophysiology
Pathophysiology
Causes
Causes
Differentiating Porphyria from Other Diseases
Differentiating Porphyria from Other Diseases
Epidemiology and Demographics
Epidemiology and Demographics
Risk Factors
Risk Factors
Screening
Screening
Natural History, Complications, and Prognosis
Natural History, Complications, and Prognosis
Diagnosis
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
Treatment
Treatment
Medical Therapy
Surgery
Prevention
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