Porphyria cutanea tarda

Last reviewed: 29 Oct 2022
Last updated: 31 Aug 2022

Summary

Definition

History and exam

Key diagnostic factors

  • blistering skin lesions
More key diagnostic factors

Other diagnostic factors

  • skin hyperpigmentation
  • hypertrichosis
  • scarring alopecia
  • red urine
Other diagnostic factors

Risk factors

  • male, middle-aged, white people
  • alcohol use
  • smoking
  • estrogen therapy
  • 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
More risk factors

Diagnostic investigations

1st investigations to order

  • plasma total porphyrins
  • plasma fluorescence emission
  • urinary total porphyrins
  • erythrocyte total porphyrins
More 1st investigations to order

Investigations to consider

  • fractionation of plasma porphyrins by high-performance liquid chromatography (HPLC)
  • fractionation of urinary porphyrins by HPLC
  • erythrocyte uroporphyrinogen decarboxylase (UROD) activity
  • fecal porphyrins
  • DNA studies
  • Liver function tests
  • serum ferritin
  • liver biopsy
  • skin biopsy
  • serum HIV enzyme-linked immunosorbent assay
  • serum hepatitis C surface antibodies
  • creatinine
  • BUN
  • hematocrit
  • hemoglobin
More investigations to consider

Treatment algorithm

ACUTE

no phlebotomy contraindications

phlebotomy contraindicated or poorly tolerated

ONGOING

relapse after remission

Contributors

Authors

Gagan Sood, MD

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 topic.

Karl E. Anderson, MD

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 topic. KEA has received consulting fees, advisory board fees, and grants to the university from Alnylam Pharmaceuticals; consulting fees, advisory board fees, and grants from Recordati Rare Diseases; and consulting fees and grants from Mitsubishi Tanabe Pharma America.

Peer reviewers

Robert S. Dawe, MBChB, MRCP(UK), MD(Glasgow)

Consultant Dermatologist

Honorary Clinical Senior Lecturer

Department of Dermatology

Ninewells Hospital & Medical School

Dundee

UK

Disclosures

RSD declares that he has no competing interests.

Jeffrey P. Callen, MD

Professor of Medicine (Dermatology)

University of Louisville

Louisville

KY

Disclosures

JPC declares that he has no competing interests.

Montgomery Bissell, MD

Professor and Chief

Gastroenterology

University of California

San Francisco

CA

Disclosures

MB declares that he has no competing interests.

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