eMedicine Specialties > Dermatology > Metabolic Diseases

Erythropoietic Protoporphyria: Follow-up

Author: Maureen B Poh-Fitzpatrick, MD, Professor Emerita of Dermatology and Special Lecturer, Columbia University; Professor of Medicine (Dermatology), University of Tennessee
Contributor Information and Disclosures

Updated: Feb 23, 2009

Follow-up

Complications

  • Severe neurological dysfunction (eg, encephalopathy, axonal polyneuropathy, respiratory failure) characteristic of attacks of acute porphyrias has been observed in persons with end-stage hepatic failure associated with protoporphyria.48,49,55
  • Pregnancy is not complicated by protoporphyria. Pregnancy does not cause worsening of protoporphyria. Photosensitivity may actually improve during gestation.56

Prognosis

  • In the absence of hepatic failure, individuals with erythropoietic protoporphyria have normal life expectancies.
 
Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous Chief Editor, William D. James, MD, to the development and writing of this article.



More on Erythropoietic Protoporphyria

Overview: Erythropoietic Protoporphyria
Differential Diagnoses & Workup: Erythropoietic Protoporphyria
Treatment & Medication: Erythropoietic Protoporphyria
Follow-up: Erythropoietic Protoporphyria
References
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References

  1. Cox TM. Erythropoietic protoporphyria. J Inherit Metab Dis. Jun 1997;20(2):258-69. [Medline].

  2. Parker M, Corrigall AV, Hift RJ, Meissner PN. Molecular characterization of erythropoietic protoporphyria in South Africa. Br J Dermatol. Jul 2008;159(1):182-91. [Medline].

  3. DeLeo VA, Poh-Fitzpatrick M, Mathews-Roth M, Harber LC. Erythropoietic protoporphyria. 10 years experience. Am J Med. Jan 1976;60(1):8-22. [Medline].

  4. Baart de la Faille H, Bijlmer-Iest JC, van Hattum J, Koningsberger J, Rademakers LH, van Weelden H. Erythropoietic protoporphyria: clinical aspects with emphasis on the skin. Curr Probl Dermatol. 1991;20:123-34. [Medline].

  5. Todd DJ. Erythropoietic protoporphyria. Br J Dermatol. Dec 1994;131(6):751-66. [Medline].

  6. Gouya L, Puy H, Lamoril J, et al. Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation. Blood. Mar 15 1999;93(6):2105-10. [Medline].

  7. Gouya L, Puy H, Robreau AM, et al. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. Nat Genet. Jan 2002;30(1):27-8. [Medline].

  8. Whatley SD, Mason NG, Khan M, et al. Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease. J Med Genet. Aug 2004;41(8):e105. [Medline].

  9. Gouya L, Martin-Schmitt C, Robreau AM, et al. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet. Jan 2006;78(1):2-14. [Medline].

  10. Goodwin RG, Kell WJ, Laidler P, et al. Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells. Blood. Jan 1 2006;107(1):60-2. [Medline].

  11. Poh-Fitzpatrick MB, Wang X, Anderson KE, Bloomer JR, Bolwell B, Lichtin AE. Erythropoietic protoporphyria: altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations. J Am Acad Dermatol. Jun 2002;46(6):861-6. [Medline].

  12. Aplin C, Whatley SD, Thompson P, et al. Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells. J Invest Dermatol. Dec 2001;117(6):1647-9. [Medline].

  13. Poh-Fitzpatrick MB. Porphyrin-sensitized cutaneous photosensitivity: pathogenesis and treatment. Clin Dermatol. Apr-Jun 1985;3(2):41-82. [Medline].

  14. Piomelli S, Lamola AA, Poh-Fitzpatrick MF, Seaman C, Harber LC. Erythropoietic protoporphyria and lead intoxication: the molecular basis for difference in cutaneous photosensitivity. I. Different rates of disappearance of protoporphyrin from the erythrocytes, both in vivo and in vitro. J Clin Invest. Dec 1975;56(6):1519-27. [Medline].

  15. Bloomer JR. The liver in protoporphyria. Hepatology. Mar-Apr 1988;8(2):402-7. [Medline].

  16. Gross U, Frank M, Doss MO. Hepatic complications of erythropoietic protoporphyria. Photodermatol Photoimmunol Photomed. Apr 1998;14(2):52-7. [Medline].

  17. Anstey AV, Hift RJ. Liver disease in erythropoietic protoporphyria: insights and implications for management. Gut. Jul 2007;56(7):1009-18. [Medline].

  18. Cripps DJ, Gilbert LA, Goldfarb SS. Erythropoietic protoporphyria: juvenile protoporphyrin hepatopathy cirrhosis and death. J Pediatr. Nov 1977;91(5):744-8. [Medline].

  19. Rand EB, Bunin N, Cochran W, Ruchelli E, Olthoff KM, Bloomer JR. Sequential liver and bone marrow transplantation for treatment of erythropoietic protoporphyria. Pediatrics. Dec 2006;118(6):e1896-9. [Medline].

  20. McGuire BM, Bonkovsky HL, Carithers RL Jr, et al. Liver transplantation for erythropoietic protoporphyria liver disease. Liver Transpl. Dec 2005;11(12):1590-6. [Medline].

  21. Brenner DA, Didier JM, Frasier F, Christensen SR, Evans GA, Dailey HA. A molecular defect in human protoporphyria. Am J Hum Genet. Jun 1992;50(6):1203-10. [Medline].

  22. Risheg H, Chen FP, Bloomer JR. Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria. Mol Genet Metab. Sep-Oct 2003;80(1-2):196-206. [Medline].

  23. Gross U, Frank M, Doss MO. Hepatic complications of erythropoietic protoporphyria. Photodermatol Photoimmunol Photomed. Apr 1998;14(2):52-7. [Medline].

  24. Doss MO, Frank M. Hepatobiliary implications and complications in protoporphyria, a 20-year study. Clin Biochem. Jun 1989;22(3):223-9. [Medline].

  25. Poh-Fitzpatrick MB, Whitlock RT, Leftkowitch JH. Changes in protoporphyrin distribution dynamics during liver failure and recovery in a patient with protoporphyria and Epstein-Barr viral hepatitis. Am J Med. May 1986;80(5):943-50. [Medline].

  26. Mathews-Roth MM. Letter: Anemia in erythropoietic protoporphyria. JAMA. Nov 11 1974;230(6):824. [Medline].

  27. Wahlin S, Aschan J, Bjornstedt M, Broomé U, Harper P. Curative bone marrow transplantation in erythropoietic protoporphyria after reversal of severe cholestasis. J Hepatol. Jan 2007;46(1):174-9. [Medline].

  28. Wolff K, Honigsmann H, Rauschmeier W, Schuler G, Pechlaner R. Microscopic and fine structural aspects of porphyrias. Acta Derm Venereol Suppl (Stockh). 1982;100:17-28. [Medline].

  29. Epstein JH, Tuffanelli DL, Epstein WL. Cutaneous changes in the porphyrias. A microscopic study. Arch Dermatol. May 1973;107(5):689-98. [Medline].

  30. Bloomer JR, Rank JM, Payne WD, et al. Follow-up after liver transplantation for protoporphyric liver disease. Liver Transpl Surg. Jul 1996;2(4):269-75. [Medline].

  31. Johnson JA, Fusaro RM. Broad-spectrum photoprotection: the roles of tinted auto windows, sunscreens and browning agents in the diagnosis and treatment of photosensitivity. Dermatology. 1992;185(4):237-41. [Medline].

  32. Roelandts R. Photo(chemo)therapy and general management of erythropoietic protoporphyria. Dermatology. 1995;190(4):330-1. [Medline].

  33. Mathews-Roth MM, Pathak UA, Fitzpatrick TB, Harber LC, Kass EH. Beta-carotene as an oral photoprotective agent in erythropoietic protoporphyria. JAMA. May 20 1974;228(8):1004-8. [Medline].

  34. Mathews-Roth MM. Carotenoid functions in photoprotection and cancer prevention. J Environ Pathol Toxicol Oncol. Jul-Oct 1990;10(4-5):181-92. [Medline].

  35. Mathews-Roth MM, Rosner B. Long-term treatment of erythropoietic protoporphyria with cysteine. Photodermatol Photoimmunol Photomed. Dec 2002;18(6):307-9. [Medline].

  36. Ross JB, Moss MA. Relief of the photosensitivity of erythropoietic protoporphyria by pyridoxine. J Am Acad Dermatol. Feb 1990;22(2 Pt 2):340-2. [Medline].

  37. Farr PM, Diffey BL, Matthews JN. Inhibition of photosensitivity in erythropoietic protoporphyria with terfenadine. Br J Dermatol. Jun 1990;122(6):809-15. [Medline].

  38. Yamamoto S, Hirano Y, Horie Y. Cimetidine reduces erythrocyte protoporphyrin in erythropoietic protoporphyria. Am J Gastroenterol. Sep 1993;88(9):1465-6. [Medline].

  39. McCullough AJ, Barron D, Mullen KD, et al. Fecal protoporphyrin excretion in erythropoietic protoporphyria: effect of cholestyramine and bile acid feeding. Gastroenterology. Jan 1988;94(1):177-81. [Medline].

  40. Gorchein A, Foster GR. Liver failure in protoporphyria: long-term treatment with oral charcoal. Hepatology. Mar 1999;29(3):995-6. [Medline].

  41. van Wijk HJ, van Hattum J, Baart de la Faille H, van den Berg JW, Edixhoven-Bosdijk A, Wilson JH. Blood exchange and transfusion therapy for acute cholestasis in protoporphyria. Dig Dis Sci. Dec 1988;33(12):1621-5. [Medline].

  42. Dellon ES, Szczepiorkowski ZM, Dzik WH, et al. Treatment of recurrent allograft dysfunction with intravenous hematin after liver transplantation for erythropoietic protoporphyria. Transplantation. Mar 27 2002;73(6):911-5. [Medline].

  43. Do KD, Banner BF, Katz E, Szymanski IO, Bonkovsky HL. Benefits of chronic plasmapheresis and intravenous heme-albumin in erythropoietic protoporphyria after orthotopic liver transplantation. Transplantation. Feb 15 2002;73(3):469-72. [Medline].

  44. Gordeuk VR, Brittenham GM, Hawkins CW, Mukhtar H, Bickers DR. Iron therapy for hepatic dysfunction in erythropoietic protoporphyria. Ann Intern Med. Jul 1986;105(1):27-31. [Medline].

  45. McClements BM, Bingham A, Callender ME, Trimble ER. Erythropoietic protoporphyria and iron therapy. Br J Dermatol. Mar 1990;122(3):423-4. [Medline].

  46. Komatsu H, Ishii K, Imamura K, et al. A case of erythropoietic protoporphyria with liver cirrhosis suggesting a therapeutic value of supplementation with alpha-tocopherol. Hepatol Res. Nov 2000;18(3):298-309. [Medline].

  47. Eichbaum QG, Dzik WH, Chung RT, Szczepiorkowski ZM. Red blood cell exchange transfusion in two patients with advanced erythropoietic protoporphyria. Transfusion. Feb 2005;45(2):208-13. [Medline].

  48. Shehade SA, Chalmers RJ, Prescott RJ. Predictable and unpredictable hazards of erythropoietic protoporphyria. Clin Exp Dermatol. May 1991;16(3):185-7. [Medline].

  49. Herbert A, Corbin D, Williams A, Thompson D, Buckels J, Elias E. Erythropoietic protoporphyria: unusual skin and neurological problems after liver transplantation. Gastroenterology. Jun 1991;100(6):1753-7. [Medline].

  50. Meerman L, Verwer R, Slooff MJ, et al. Perioperative measures during liver transplantation for erythropoietic protoporphyria. Transplantation. Jan 1994;57(1):155-8. [Medline].

  51. Morris SD, Mason NG, Elder GH, Hawk JL, Sarkany RP. Ferrochelatase gene polymorphism analysis for accurate genetic counselling in erythropoietic protoporphyria. Br J Dermatol. Sep 2002;147(3):572-4. [Medline].

  52. Schneider-Yin X, Gouya L, Meier-Weinand A, Deybach JC, Minder EI. New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care. Eur J Pediatr. Oct 2000;159(10):719-25. [Medline].

  53. Redeker AG, Sterling RE. The "glucose effect" in erythropoietic protoporphyria. Arch Intern Med. May 1968;121(5):446-8. [Medline].

  54. Bonkovsky HL, Schned AR. Fatal liver failure in protoporphyria. Synergism between ethanol excess and the genetic defect. Gastroenterology. Jan 1986;90(1):191-201. [Medline].

  55. Rank JM, Carithers R, Bloomer J. Evidence for neurological dysfunction in end-stage protoporphyric liver disease. Hepatology. Dec 1993;18(6):1404-9. [Medline].

  56. Poh-Fitzpatrick MB. Human protoporphyria: reduced cutaneous photosensitivity and lower erythrocyte porphyrin levels during pregnancy. J Am Acad Dermatol. Jan 1997;36(1):40-3. [Medline].

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Further Reading

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Keywords

erythropoietic protoporphyria, erythrohepatic protoporphyria, congenital erythropoietic protoporphyria, protoporphyria, porphyria, light sensitivity, photoprotection, end-stage liver disease, endstage liver disease, ESLD, ferrochelatase, FECH

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Contributor Information and Disclosures

Author

Maureen B Poh-Fitzpatrick, MD, Professor Emerita of Dermatology and Special Lecturer, Columbia University; Professor of Medicine (Dermatology), University of Tennessee
Maureen B Poh-Fitzpatrick, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, and New York Academy of Medicine
Disclosure: Nothing to disclose.

Medical Editor

Günter Burg, MD, Professor and Chairman Emeritus, Department of Dermatology, University of Zürich School of Medicine; Delegate of The Foundation for Modern Teaching and Learning in Medicine Faculty of Medicine, University of Zürich, Switzerland
Günter Burg, MD is a member of the following medical societies: American Academy of Dermatology, American Dermatological Association, International Society for Dermatologic Surgery, North American Clinical Dermatologic Society, and Pacific Dermatologic Association
Disclosure: Nothing to disclose.

Pharmacy Editor

David F Butler, MD, Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic
David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Managing Editor

Edward F Chan, MD, Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania School of Medicine
Edward F Chan, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, and Society for Investigative Dermatology
Disclosure: Nothing to disclose.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

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