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Porphyria Cutanea Tarda

Marie L Borum, MD, EdD, MPH and Adam Z Horowitz, M.D. Reviewed 06/2022
 


BASICS

Porphyria cutanea tarda (PCT) is a condition caused by a defect in the heme biosynthesis pathway that results in decreased activity of the hepatic uroporphyrinogen decarboxylase (UROD), the fif...

DIAGNOSIS

The diagnosis of PCT can be established based on the cutaneous manifestations and the characteristic plasma, urinary, and fecal porphyrins. 

HISTORY

  • Development of skin changes with sun exposu...

TREATMENT

  • Therapeutic phlebotomy and hydroxychloroquine are equally efficacious at achieving disease remission.

  • Therapeutic phlebotomy is the preferred treatment for patients with iron overload.

    • Phlebot...

ONGOING CARE

Patients with PCT are at increased risk of developing hepatocellular carcinoma, especially if they have coexisting liver disease, viral hepatitis, or alcohol use. 

FOLLOW-UP RECOMMENDATIONS

REFERENCES

1
Frank  J, Poblete-Gutiérrez  P. Porphyria cutanea tarda—when skin meets liver. Best Pract Res Clin Gastroenterol.  2010; 24(5): 735– 745....

ADDITIONAL READING

  • Anderson  KE, Bloomer  JR, Bonkovsky  HL, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med. ...

CODES

ICD10

E80.1 Porphyria cutanea tarda 

SNOMED

  • 61860000 Porphyria cutanea tarda (disorder)

  • 402479002 Sporadic porphyria cutanea tarda (disorder)

  • 59229005 Familial porphyria cutanea tarda (disorder)

CLINICAL PEARLS

  • PCT is a condition that results from a defect in the UROD enzyme in the heme synthesis pathway, causing skin and liver manifestations.

  • Diagnosis should be considered in patients present...

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