Last reviewed: November 2017
Last updated: September  2016

Summary

Definition

History and exam

Key diagnostic factors

  • blistering skin lesions

Other diagnostic factors

  • skin hyperpigmentation
  • hypertrichosis
  • scarring alopecia
  • red urine

Risk factors

  • males, middle age, white
  • alcohol use
  • smoking
  • estrogen use
  • hepatitis C
  • HIV
  • hereditary hemochromatosis gene (HFE) mutation
  • uroporphyrinogen decarboxylase (UROD) mutations
  • exposure to halogenated polycyclic aromatic hydrocarbons
  • reduced levels of antioxidants
  • end-stage renal disease
  • diabetes mellitus

Diagnostic investigations

1st investigations to order

  • plasma total porphyrins
  • plasma fluorescence emission
  • urinary total porphyrins
Full details

Investigations to consider

  • fractionation of plasma porphyrins by HPLC
  • fractionation of urinary porphyrins by HPLC
  • erythrocyte total porphyrins
  • erythrocyte uroporphyrinogen decarboxylase (UROD) activity
  • fecal porphyrins
  • DNA studies
  • LFTs
  • serum ferritin
  • liver biopsy
  • skin biopsy
  • serum HIV ELISA
  • serum hepatitis C surface antibodies
  • creatinine
  • BUN
  • hematocrit
  • hemoglobin
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

Associate Professor

Department of Medicine and Surgery

Baylor College of Medicine

Houston

TX

Disclosures

GS is an author of a number of references cited in this monograph.

Professor

Departments of Preventive Medicine and Community Health and Internal Medicine

University of Texas Medical Branch

Galveston

TX

Disclosures

KEA has received grants from the National Institutes of Health, the US Food and Drug Administration, and Alnylam Pharmaceuticals; he is an author of a number of references cited in this monograph.

Peer reviewers VIEW ALL

Consultant Dermatologist

Honorary Clinical Senior Lecturer

Department of Dermatology

Ninewells Hospital & Medical School

Dundee

UK

Disclosures

RSD declares that he has no competing interests.

Professor of Medicine (Dermatology)

University of Louisville

Louisville

KY

Disclosures

JPC declares that he has no competing interests.

Professor and Chief

Gastroenterology

University of California

San Francisco

CA

Disclosures

MB declares that he has no competing interests.

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