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Porphyria cutanea tarda and hepatoerythropoietic porphyria: Management and prognosis

Ashwani K Singal, MD, MS
Karl E Anderson, MD, FACP
Section Editor
Stanley L Schrier, MD
Deputy Editor
Jennifer S Tirnauer, MD


The porphyrias are metabolic disorders caused by altered activity of enzymes in the heme biosynthetic pathway. Porphyria cutanea tarda (PCT; previously called symptomatic porphyria, chemical porphyria, toxic porphyria) is the most common and the most readily treated of the porphyrias.

This topic review discusses the management and prognosis of PCT, a cutaneous porphyria (acquired or inherited) caused by deficient activity of uroporphyrinogen decarboxylase (UROD) in the liver, and hepatoerythropoietic porphyria (HEP), an extremely rare condition caused by biallelic UROD mutation. The pathogenesis, clinical manifestations, and diagnostic evaluation for PCT and HEP are presented in detail separately. (See "Porphyria cutanea tarda and hepatoerythropoietic porphyria: Clinical manifestations and diagnosis".)

Additional topic reviews discuss management of other cutaneous porphyrias:

Congenital erythropoietic porphyria (CEP) – (See "Congenital erythropoietic porphyria", section on 'Management'.)

Erythropoietic protoporphyria (EPP) – (See "Erythropoietic protoporphyria and X-linked protoporphyria", section on 'Management'.)

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Literature review current through: Dec 2017. | This topic last updated: Aug 18, 2017.
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  1. Monastirli A, Georgiou S, Bolsen K, et al. Treatment of porphyria cutanea tarda with oral thalidomide. Skin Pharmacol Appl Skin Physiol 1999; 12:305.
  2. Miyauchi S, Shiraishi S, Miki Y. Small volume plasmapheresis in the management of porphyria cutanea tarda. Arch Dermatol 1983; 119:752.
  3. Ayres S Jr, Mihan R. Porphyria cutanea tarda: response to vitamin E. A review and two case reports. Cutis 1978; 22:50.
  4. Binet H, Simonart T, Van Vooren JP, et al. Porphyria cutanea tarda in a human immunodeficiency virus-infected patient: treatment with N-acetyl-cysteine. Int J Dermatol 1998; 37:718.
  5. Bertoli LF, Barton JC. Remission of porphyria cutanea tarda after anastrozole treatment of breast cancer. Clin Breast Cancer 2007; 7:716.
  6. Perry HO, Mullanax MG, Wiegand SE. Metabolic alkalinization therapy in porphyria cutanea tarda. Arch Dermatol 1970; 102:359.
  7. Aarsand AK, Boman H, Sandberg S. Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies. Clin Chem 2009; 55:795.
  8. Sood G, Anderson KE. Porphyrias. In: Evidence-Based Hematology, 1st edition, Mark A. Crowther, Jeffrey Ginsberg, Holger Schünemann, Ralph M Meyer, Richard Lottenberg (Eds), Wiley, 2008. p.229-237.
  9. Singal AK, Kormos-Hallberg C, Lee C, et al. Low-dose hydroxychloroquine is as effective as phlebotomy in treatment of patients with porphyria cutanea tarda. Clin Gastroenterol Hepatol 2012; 10:1402.
  10. Dereure O, Jumez N, Bessis D, et al. Measurement of liver iron content by magnetic resonance imaging in 20 patients with overt porphyria cutanea tarda before phlebotomy therapy: a prospective study. Acta Derm Venereol 2008; 88:341.
  11. Rocchi E, Gibertini P, Cassanelli M, et al. Iron removal therapy in porphyria cutanea tarda: phlebotomy versus slow subcutaneous desferrioxamine infusion. Br J Dermatol 1986; 114:621.
  12. Ratnaike S, Blake D, Campbell D, et al. Plasma ferritin levels as a guide to the treatment of porphyria cutanea tarda by venesection. Australas J Dermatol 1988; 29:3.
  13. Ippen H. Treatment of porphyria cutanea tarda by phlebotomy. Semin Hematol 1977; 14:253.
  14. Ramsay CA, Magnus IA, Turnbull A, Baker H. The treatment of porphyria cutanea tarda by venesection. Q J Med 1974; 43:1.
  15. Epstein JH, Redeker AG. Porphyria cutanea tarda. A study of the effect of phlebotomy. N Engl J Med 1968; 279:1301.
  16. Lundvall O. The effect of phlebotomy therapy in porphyria cutanea tarda. Its relation to the phlebotomy-induced reduction of iron stores. Acta Med Scand 1971; 189:33.
  17. Chlumský J, Malina L, Chlumská A. The effect of venesection therapy on liver tissue in porphyria cutanea tarda. Acta Hepatogastroenterol (Stuttg) 1973; 20:124.
  18. Epstein JH, Redeker AG. Porphyria cutanea tarda symptomatica (PCT-S). A study of the effect of phlebotomy therapy. Arch Dermatol 1965; 92:286.
  19. Anderson KE, Goeger DE, Carson RW, et al. Erythropoietin for the treatment of porphyria cutanea tarda in a patient on long-term hemodialysis. N Engl J Med 1990; 322:315.
  20. Shieh S, Cohen JL, Lim HW. Management of porphyria cutanea tarda in the setting of chronic renal failure: a case report and review. J Am Acad Dermatol 2000; 42:645.
  21. Easterbrook M. An ophthalmological view on the efficacy and safety of chloroquine versus hydroxychloroquine. J Rheumatol 1999; 26:1866.
  22. Chlumska A, Chlumsky J, Malina L. Liver changes in porphyria cutanea tarda patients treated with chloroquine. Br J Dermatol 1980; 102:261.
  23. Ashton RE, Hawk JL, Magnus IA. Low-dose oral chloroquine in the treatment of porphyria cutanea tarda. Br J Dermatol 1984; 111:609.
  24. Freesemann A, Frank M, Sieg I, Doss MO. Treatment of porphyria cutanea tarda by the effect of chloroquine on the liver. Skin Pharmacol 1995; 8:156.
  25. Wolff C, Armas R, Krause P, et al. [Treatment of porphyria cutanea tarda with chloroquine and its effect on associated liver disease: retrospective analysis]. Rev Med Chil 1996; 124:456.
  26. Kordac V, Papezová R, Semrádová M. Chloroquine in the treatment of porphyria cutanea tarda. N Engl J Med 1977; 296:949.
  27. Ryan Caballes F, Sendi H, Bonkovsky HL. Hepatitis C, porphyria cutanea tarda and liver iron: an update. Liver Int 2012; 32:880.
  28. Malkinson FD, Levitt L. Hydroxychloroquine treatment of porphyria cutanea tarda. Arch Dermatol 1980; 116:1147.
  29. Stölzel U, Köstler E, Schuppan D, et al. Hemochromatosis (HFE) gene mutations and response to chloroquine in porphyria cutanea tarda. Arch Dermatol 2003; 139:309.
  30. Thornsvard CT, Guider BA, Kimball DB. An unusual reaction to chloroquine-primaquine. JAMA 1976; 235:1719.
  31. Liu AC. Hepatotoxic reaction to chloroquine phosphate in a patient with previously unrecognized porphyria cutanea tarda. West J Med 1995; 162:548.
  32. Sweeney GD, Jones KG. Porphyria cutanea tarda: clinical and laboratory features. Can Med Assoc J 1979; 120:803.
  33. Bulaj ZJ, Franklin MR, Phillips JD, et al. Transdermal estrogen replacement therapy in postmenopausal women previously treated for porphyria cutanea tarda. J Lab Clin Med 2000; 136:482.
  34. Elder GH. Porphyrin metabolism in porphyria cutanea tarda. Semin Hematol 1977; 14:227.
  35. Millar JW. Rifampicin-induced porphyria cutanea tarda. Br J Dis Chest 1980; 74:405.
  36. Singal AK, Venkata KVR, Jampana S, et al. Hepatitis C Treatment in Patients With Porphyria Cutanea Tarda. Am J Med Sci 2017; 353:523.
  37. Aguilera P, Laguno M, To-Figueras J. Treatment of chronic hepatitis with boceprevir leads to remission of porphyria cutanea tarda. Br J Dermatol 2014; 171:1595.
  38. Combalia A, To-Figueras J, Laguno M, et al. Direct-acting antivirals for hepatitis C virus induce a rapid clinical and biochemical remission of porphyria cutanea tarda. Br J Dermatol 2017; 177:e183.
  39. Marchesi L, Di Padova C, Cainelli T, et al. A comparative trial of desferrioxamine and hydroxychloroquine for treatment of porphyria cutanea tarda in alcoholic patients. Photodermatol 1984; 1:286.
  40. Pandya AG, Nezafati KA, Ashe-Randolph M, Yalamanchili R. Deferasirox for porphyria cutanea tarda: a pilot study. Arch Dermatol 2012; 148:898.
  41. Moran-Jimenez MJ, Ged C, Romana M, et al. Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria. Am J Hum Genet 1996; 58:712.
  42. Meguro K, Fujita H, Ishida N, et al. Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria. J Invest Dermatol 1994; 102:681.
  43. Pimstone NR, Gandhi SN, Mukerji SK. Therapeutic efficacy of oral charcoal in congenital erythropoietic porphyria. N Engl J Med 1987; 316:390.
  44. Horina JH, Wolf P. Epoetin for severe anemia in hepatoerythropoietic porphyria. N Engl J Med 2000; 342:1294.
  45. Elder GH, Smith SG, Herrero C, et al. Hepatoerythropoietic porphyria: a new uroporphyrinogen decarboxylase defect or homozygous porphyria cutanea tarda? Lancet 1981; 1:916.
  46. Fontanellas A, Mazurier F, Moreau-Gaudry F, et al. Correction of uroporphyrinogen decarboxylase deficiency (hepatoerythropoietic porphyria) in Epstein-Barr virus-transformed B-cell lines by retrovirus-mediated gene transfer: fluorescence-based selection of transduced cells. Blood 1999; 94:465.
  47. Badenas C, To-Figueras J, Phillips JD, et al. Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives. Clin Genet 2009; 75:346.
  48. Ged C, Ozalla D, Herrero C, et al. Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus. Arch Dermatol 2002; 138:957.
  49. Elder GH. Porphyria cutanea tarda and related disorders. In: The Porphyrin Handbook, Kadish K, Smith K, Guilard R (Eds), Elsevier Science, San Diego 2003. Vol 14, p.67.