Sections

Protoporphyria

Medication

Medication Summary

Synthetic beta-carotene (Lumitene), an oral photoprotective agent, is available as a nonprescription product. Cysteine showed benefit in clinical trials, but is rarely used. Pyridoxine was reported effective in two cases. H1-receptor blockade may reduce symptoms due to mast cell histamine release during acute phototoxic reactions if established prior to exposure. Whether H2-receptor antagonists reproducibly slow porphyrin production in various porphyrias remains unproven.

Afamelanotide is a synthetic alpha-melanocyte–stimulating hormone analogue that increases the production of eumelanin in skin, thus producing a tan. Afamelanotide binds to the melanocortin-1 receptor (MC1R). MC1R signaling up-regulates the synthesis of eumelanin and pheomelanin, induces antioxidant activity, enhances DNA repair processes, and modulates inflammation. It is administered as a subcutaneous implant containing 16 mg of afamelanotide. It is approved in the European Union and the United States for use in adults with erythropoietic protoporphyria (EPP).

Liver dysfunction warrants individualized design of therapeutic regimens that may include the administration of enteric sorbents to promote protoporphyrin excretion, bile acids to enhance porphyrin clearance from the liver, and hematin to repress porphyrin production. Combinations of these and other adjunctive agents and modalities may moderate the urgency presented by a failing organ, allowing orderly preparation for an optimal transplantation.

Class Summary

Alpha melanocyte stimulating hormone analogs increase production of eumelanin (the most common type of melanin) in the skin independent of exposure to sunlight or artificial light sources.

Afamelanotide (Scenesse)

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Erythropoietic protoporphyria is a rare disorder caused by mutations leading to impaired activity of ferrochelatase, an enzyme involved in heme production; decreased ferrochelatase activity leads to protoporphyrin IX (PPIX) accumulation in the body; light reaching the skin can react with PPIX causing intense skin pain and skin changes (eg, redness, thickening). Afamelanotide, a melanocortin-1 receptor (MC1-R) agonist, increases production of eumelanin (the most common type of melanin) in the skin independent of exposure to sunlight or artificial light sources. It is indicated to increase pain-free light exposure in adults with history of phototoxic reactions from erythropoietic protoporphyria (EPP).

Class Summary

Beta-carotene is a scavenger of singlet-exited oxygen and is believed to interfere with the efficiency of porphyrin-sensitized photoxidative damage in the skin. Ingestion of beta-carotene at recommended doses produces carotenodermia after several weeks. Increasing tolerance of sunlight develops during this loading period. Tolerance diminishes over several weeks when treatment is stopped. Only some individuals with EPP reported that beta-carotene provided photoprotection; others reported no noticeable benefit.

Beta carotene (Lumitene)

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The exact mechanism of action is not completely elucidated. The patient must become carotenemic before effects are observed. More than one internal light screen may be responsible for effects. This agent may provide a limited level of photoprotection. It causes yellowing of skin (carotenoderma). Any photoprotection afforded increases slowly over a 4- to 6-week period after drug therapy is commenced. When discontinued, skin color and benefit diminish over several weeks.

Class Summary

H1-receptor antagonists modulate effects of histamine in skin. If taken prior to anticipated strong sunlight exposure that cannot be avoided, acute reactions may be attenuated to some extent; minimal benefit is expected if taken afterward.

Fexofenadine (Allegra)

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Fexofenadine is a nonsedating second-generation medication with fewer adverse effects than first-generation medications. It competes with histamine for H1 receptors in the GI tract, blood vessels, and respiratory tract, reducing hypersensitivity reactions. Fexofenadine does not sedate. It is available in daily and twice-daily preparations.

Class Summary

These agents produce blockade of H2 receptors.

Cimetidine (Tagamet)

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Cimetidine is an H2 antagonist, which, when combined with an H1-type, may be useful in treating itching and flushing in urticaria. Porphyria-specific usage for inhibiting overproduction of porphyrins is experimental.

Class Summary

Agents that bind protoporphyrin in the intestinal lumen promote its excretion by interrupting enterohepatic recirculation, thereby reducing the porphyrin load presented to the liver for clearance.

Cholestyramine (Questran)

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Cholestyramine is a polymeric resin that binds bile acids, porphyrins, and other molecules to form nonabsorbable complexes that are excreted unchanged in feces. It adsorbs many drugs and nutrients; long-term use requires proper timing of oral drugs and may warrant supplementation of vitamins D, E, A, and K.

Activated charcoal (Actidose)

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Activated charcoal prevents absorption by adsorbing porphyrin in the intestine. Multidose charcoal may interrupt enterohepatic recirculation and enhance elimination by enterocapillary exsorption. It does not dissolve in water. It adsorbs many medications and nutrients; long-term use requires proper timing of oral drugs and may warrant supplementation of vitamins D, E, A, and K.

Class Summary

Increasing bile flow enhances secretion of protoporphyrin by the liver into the enteric tract and clearance from the body.

Ursodiol (Actigall)

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Ursodiol has been shown to promote bile flow in cholestatic conditions associated with a patent extrahepatic biliary system. It decreases the cholesterol content of bile and therefore reduces bile stone and sludge formation.

Class Summary

Intravenous infusion of a heme analogue may repress heme synthesis in liver and bone marrow cells, thereby reducing rate of protoporphyrin overproduction.

Hemin (Panhematin)

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Hemin in an enzyme inhibitor derived from processed red blood cells and is an iron-containing metalloporphyrin. It was previously known as hematin, a term used to describe the chemical reaction product of hemin and sodium carbonate solution.

It has an anticoagulant effect and may cause thrombophlebitis at the infusion site. It must be reconstituted from lyophilized powder. Reconstitute it with human serum albumin 25% (132 mL of 25% human serum albumin to 1 vial of hemin [301 mg heme]).

DeLeo VA, Poh-Fitzpatrick M, Mathews-Roth M, Harber LC. Erythropoietic protoporphyria. 10 years experience. Am J Med. 1976 Jan. 60(1):8-22. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Todd DJ. Erythropoietic protoporphyria. Br J Dermatol. 1994 Dec. 131(6):751-66. [QxMD MEDLINE Link].
Bissell DM, Anderson KE, Bonkovsky HL. Porphyria. N Engl J Med. 2017 Aug 31. 377 (9):862-872. [QxMD MEDLINE Link].
Karim Z, Lyoumi S, Nicolas G, Deybach JC, Gouya L, Puy H. Porphyrias: A 2015 update. Clin Res Hepatol Gastroenterol. 2015 Sep. 39 (4):412-25. [QxMD MEDLINE Link].
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. 1999 Mar 15. 93(6):2105-10. [QxMD MEDLINE Link].
Gouya L, Puy H, Robreau AM, et al. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. Nat Genet. 2002 Jan. 30(1):27-8. [QxMD MEDLINE Link].
Schmitt C, Ducamp S, Gouya L, Deybach JC, Puy H. [Inheritance in erythropoietic protoporphyria]. Pathol Biol (Paris). 2010 Oct. 58(5):372-80. [QxMD MEDLINE Link].
Whatley SD, Mason NG, Holme SA, Anstey AV, Elder GH, Badminton MN. Molecular epidemiology of erythropoietic protoporphyria in the U.K. Br J Dermatol. 2010 Mar. 162(3):642-6. [QxMD MEDLINE Link].
Frank J, Poblete-Gutiérrez P. Delayed diagnosis and diminished quality of life in erythropoietic protoporphyria: results of a cross-sectional study in Sweden. J Intern Med. 2011 Mar. 269(3):270-4. [QxMD MEDLINE Link].
Balwani M, Doheny D, Bishop DF, Nazarenko I, Yasuda M, Dailey HA. Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria. Mol Med. 2013. 19:26-35. [QxMD MEDLINE Link].
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. 2004 Aug. 41(8):e105. [QxMD MEDLINE Link].
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. 2006 Jan. 78(1):2-14. [QxMD MEDLINE Link].
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. 2006 Jan 1. 107(1):60-2. [QxMD MEDLINE Link].
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. 2002 Jun. 46(6):861-6. [QxMD MEDLINE Link].
Aplin C, Whatley SD, Thompson P, et al. Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells. J Invest Dermatol. 2001 Dec. 117(6):1647-9. [QxMD MEDLINE Link].
Whatley SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN. C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. Am J Hum Genet. 2008 Sep. 83(3):408-14. [QxMD MEDLINE Link].
Livideanu CB, Ducamp S, Lamant L, Gouya L, Rauzy OB, Deybach JC. Late-onset X-linked dominant protoporphyria: an etiology of photosensitivity in the elderly. J Invest Dermatol. 2013 Jun. 133(6):1688-90. [QxMD MEDLINE Link].
Yien YY, Ducamp S, van der Vorm LN, Kardon JR, Manceau H, Kannengiesser C, et al. Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria. Proc Natl Acad Sci U S A. 2017 Sep 19. 114 (38):E8045-E8052. [QxMD MEDLINE Link].
Poh-Fitzpatrick MB. Porphyrin-sensitized cutaneous photosensitivity: pathogenesis and treatment. Clin Dermatol. 1985 Apr-Jun. 3(2):41-82. [QxMD MEDLINE Link].
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. 1975 Dec. 56(6):1519-27. [QxMD MEDLINE Link].
Bloomer JR. The liver in protoporphyria. Hepatology. 1988 Mar-Apr. 8(2):402-7. [QxMD MEDLINE Link].
Gross U, Frank M, Doss MO. Hepatic complications of erythropoietic protoporphyria. Photodermatol Photoimmunol Photomed. 1998 Apr. 14(2):52-7. [QxMD MEDLINE Link].
Anstey AV, Hift RJ. Liver disease in erythropoietic protoporphyria: insights and implications for management. Gut. 2007 Jul. 56(7):1009-18. [QxMD MEDLINE Link].
Brenner DA, Didier JM, Frasier F, Christensen SR, Evans GA, Dailey HA. A molecular defect in human protoporphyria. Am J Hum Genet. 1992 Jun. 50(6):1203-10. [QxMD MEDLINE Link].
Saruwatari H, Ueki Y, Yotsumoto S, Shimada T, Fukumaru S, Kanekura T, et al. Genetic analysis of the ferrochelatase gene in eight Japanese patients from seven families with erythropoietic protoporphyria. J Dermatol. 2006 Sep. 33(9):603-8. [QxMD MEDLINE Link].
Yasuda M, Chen B, Desnick RJ. Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes. Mol Genet Metab. 2018 Nov 30. [QxMD MEDLINE Link].
Nakano H, Nakano A, Toyomaki Y, Ohashi S, Harada K, Moritsugu R, et al. Novel ferrochelatase mutations in Japanese patients with erythropoietic protoporphyria: high frequency of the splice site modulator IVS3-48C polymorphism in the Japanese population. J Invest Dermatol. 2006 Dec. 126 (12):2717-9. [QxMD MEDLINE Link].
Risheg H, Chen FP, Bloomer JR. Genotypic determinants of phenotype in North American patients with erythropoietic protoporphyria. Mol Genet Metab. 2003 Sep-Oct. 80(1-2):196-206. [QxMD MEDLINE Link].
Lau K, Lam C. DNA-based diagnosis of erythropoietic protoporphyria in two families and the frequency of a low-expression FECH allele in a Chinese population. Clin Chim Acta. 2009. 400:132-4. [Full Text].
Wiman A, Floderus Y, Harper P. Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria. J Hum Genet. 2003. 48(2):70-6. [QxMD MEDLINE Link].
Mizawa M, Makino T, Nakano H, Sawamura D, Shimizu T. Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene. Br J Dermatol. 2016 Jan. 174 (1):172-5. [QxMD MEDLINE Link].
Ducamp S, Schneider-Yin X, de Rooij F, Clayton J, Fratz EJ, Rudd A. Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP). Hum Mol Genet. 2013 Apr 1. 22(7):1280-8. [QxMD MEDLINE Link].
Ninomiya Y, Kokunai Y, Tanizaki H, Akasaka E, Nakano H, Moriwaki S. X-linked dominant protoporphyria: The first reported Japanese case. J Dermatol. 2015 Sep 21. 42:1-5. [QxMD MEDLINE Link].
Landefeld C, Kentouche K, Gruhn B, Stauch T, Rößler S, Schuppan D, et al. X-linked protoporphyria: Iron supplementation improves protoporphyrin overload, liver damage and anaemia. Br J Haematol. 2015 Jul 20. [QxMD MEDLINE Link].
Lecha M, Puy H, Deybach J-C. Erythropoietic protoporphyria. Orphanet Journal of Rare Diseases. 10 September 2009. 4:1-19. [Full Text].
Poh-Fitzpatrick MB. Human protoporphyria: reduced cutaneous photosensitivity and lower erythrocyte porphyrin levels during pregnancy. J Am Acad Dermatol. 1997 Jan. 36(1):40-3. [QxMD MEDLINE Link].
Whalin S, Floderus Y, Stal P, Harper P. Erythropietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics. J Intern Med. 2010. 269:278-288.
Livideanu CB, Ducamp S, Lamant L, Gouya L, Rauzy OB, Deybach JC, et al. Late-onset X-linked dominant protoporphyria: an etiology of photosensitivity in the elderly. J Invest Dermatol. 2013 Jun. 133 (6):1688-90. [QxMD MEDLINE Link].
Cripps DJ, Gilbert LA, Goldfarb SS. Erythropoietic protoporphyria: juvenile protoporphyrin hepatopathy cirrhosis and death. J Pediatr. 1977 Nov. 91(5):744-8. [QxMD MEDLINE Link].
Rand EB, Bunin N, Cochran W, Ruchelli E, Olthoff KM, Bloomer JR. Sequential liver and bone marrow transplantation for treatment of erythropoietic protoporphyria. Pediatrics. 2006 Dec. 118(6):e1896-9. [QxMD MEDLINE Link].
McGuire BM, Bonkovsky HL, Carithers RL Jr, et al. Liver transplantation for erythropoietic protoporphyria liver disease. Liver Transpl. 2005 Dec. 11(12):1590-6. [QxMD MEDLINE Link].
Méndez M, Poblete-Gutiérrez P, Morán-Jiménez MJ, Rodriguez ME, Garrido-Astray MC, Fontanellas A. A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma. Br J Dermatol. 2009 Jun. 160(6):1330-4. [QxMD MEDLINE Link].
Holme SA, Whatley SD, Roberts AG, Anstey AV, Elder GH, Ead RD. Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. J Invest Dermatol. 2009 Mar. 129(3):599-605. [QxMD MEDLINE Link].
Shehade SA, Chalmers RJ, Prescott RJ. Predictable and unpredictable hazards of erythropoietic protoporphyria. Clin Exp Dermatol. 1991 May. 16(3):185-7. [QxMD MEDLINE Link].
Herbert A, Corbin D, Williams A, Thompson D, Buckels J, Elias E. Erythropoietic protoporphyria: unusual skin and neurological problems after liver transplantation. Gastroenterology. 1991 Jun. 100(6):1753-7. [QxMD MEDLINE Link].
Rank JM, Carithers R, Bloomer J. Evidence for neurological dysfunction in end-stage protoporphyric liver disease. Hepatology. 1993 Dec. 18(6):1404-9. [QxMD MEDLINE Link].
Gross U, Frank M, Doss MO. Hepatic complications of erythropoietic protoporphyria. Photodermatol Photoimmunol Photomed. 1998 Apr. 14(2):52-7. [QxMD MEDLINE Link].
Doss MO, Frank M. Hepatobiliary implications and complications in protoporphyria, a 20-year study. Clin Biochem. 1989 Jun. 22(3):223-9. [QxMD MEDLINE Link].
Holme SA, Worwood M, Anstey AV, Elder GH, Badminton MN. Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria. Blood. 2007 Dec 1. 110 (12):4108-10. [QxMD MEDLINE Link].
Mathews-Roth MM. Letter: Anemia in erythropoietic protoporphyria. JAMA. 1974 Nov 11. 230(6):824. [QxMD MEDLINE Link].
Gordeuk VR, Brittenham GM, Hawkins CW, Mukhtar H, Bickers DR. Iron therapy for hepatic dysfunction in erythropoietic protoporphyria. Ann Intern Med. 1986 Jul. 105(1):27-31. [QxMD MEDLINE Link].
Bentley DP, Meek EM. Clinical and biochemical improvement following low-dose intravenous iron therapy in a patient with erythropoietic protoporphyria. Br J Haematol. 2013 Oct. 163 (2):289-91. [QxMD MEDLINE Link].
Holme SA, Thomas CL, Whatley SD, Bentley DP, Anstey AV, Badminton MN. Symptomatic response of erythropoietic protoporphyria to iron supplementation. J Am Acad Dermatol. 2007 Jun. 56 (6):1070-2. [QxMD MEDLINE Link].
McClements BM, Bingham A, Callender ME, Trimble ER. Erythropoietic protoporphyria and iron therapy. Br J Dermatol. 1990 Mar. 122(3):423-4. [QxMD MEDLINE Link].
Milligan A, Graham-Brown RA, Sarkany I, Baker H. Erythropoietic protoporphyria exacerbated by oral iron therapy. Br J Dermatol. 1988 Jul. 119 (1):63-6. [QxMD MEDLINE Link].
Spelt JM, de Rooij FW, Wilson JH, Zandbergen AA. Vitamin D deficiency in patients with erythropoietic protoporphyria. J Inherit Metab Dis. 2010 Dec. 33 Suppl 3:S1-4. [QxMD MEDLINE Link].
Allo G, del Carmen Garrido-Astray M, De Salamanca RE, Martínez G, Hawkins F. Bone mineral density and vitamin D levels in erythropoietic protoporphyria. Endocrine. 2013 Dec. 44(3):803-7. [QxMD MEDLINE Link].
Wahlin S, Aschan J, Bjornstedt M, Broomé U, Harper P. Curative bone marrow transplantation in erythropoietic protoporphyria after reversal of severe cholestasis. J Hepatol. 2007 Jan. 46(1):174-9. [QxMD MEDLINE Link].
Wahlin S, Stal P, Adam R, Karam V, Porte R, Seehofer D. Liver transplantation for erythropoietic protoporphyria in Europe. Liver Transpl. 2011 Sep. 17(9):1021-6. [QxMD MEDLINE Link].
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. [QxMD MEDLINE Link].
Epstein JH, Tuffanelli DL, Epstein WL. Cutaneous changes in the porphyrias. A microscopic study. Arch Dermatol. 1973 May. 107(5):689-98. [QxMD MEDLINE Link].
Minder EI. Afamelanotide, an agonistic analog of a-melanocyte-stimulating hormone, in dermal phototoxicity of erythropoietic protoporphyria. Expert Opin Investig Drugs. 2010 Dec. 19(12):1591-602. [QxMD MEDLINE Link].
Kim ES, Garnock-Jones KP. Afamelanotide: a review in erythropoietic protoporphyria. Am J Clin Dermatol. 2016 Apr. 17 (2):179-85. [QxMD MEDLINE Link].
Minder EI, Barman-Aksoezen J, Schneider-Yin X. Pharmacokinetics and pharmacodynamics of afamelanotide and its clinical use in treating dermatologic disorders. Clin Pharmacokinet. 2017 Aug. 56 (8):815-823. [QxMD MEDLINE Link].
SCENESSE (afamelanotide) implant, for subcutaneous use [package insert]. West Menlo Park, Calif: CLINUVEL, INC. October 2019. Available at [Full Text].
Langendonk JG, Balwani M, Anderson KE, Bonkovsky HL, Anstey AV, Bissell DM, et al. Afamelanotide for Erythropoietic Protoporphyria. N Engl J Med. 2015 Jul 2. 373 (1):48-59. [QxMD MEDLINE Link]. [Full Text].
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. [QxMD MEDLINE Link].
Roelandts R. Photo(chemo)therapy and general management of erythropoietic protoporphyria. Dermatology. 1995. 190(4):330-1. [QxMD MEDLINE Link].
Mathews-Roth MM, Pathak UA, Fitzpatrick TB, Harber LC, Kass EH. Beta-carotene as an oral photoprotective agent in erythropoietic protoporphyria. JAMA. 1974 May 20. 228(8):1004-8. [QxMD MEDLINE Link].
Mathews-Roth MM. Carotenoid functions in photoprotection and cancer prevention. J Environ Pathol Toxicol Oncol. 1990 Jul-Oct. 10(4-5):181-92. [QxMD MEDLINE Link].
Mathews-Roth MM, Rosner B. Long-term treatment of erythropoietic protoporphyria with cysteine. Photodermatol Photoimmunol Photomed. 2002 Dec. 18(6):307-9. [QxMD MEDLINE Link].
Yamamoto S, Hirano Y, Horie Y. Cimetidine reduces erythrocyte protoporphyrin in erythropoietic protoporphyria. Am J Gastroenterol. 1993 Sep. 88(9):1465-6. [QxMD MEDLINE Link].
Tu JH, Sheu SL, Teng JM. Novel Treatment Using Cimetidine for Erythropoietic Protoporphyria in Children. JAMA Dermatol. 2016 Nov 1. 152 (11):1258-1261. [QxMD MEDLINE Link].
Tishler PV, Rosner B. Treatment of erythropoietic protoporphyria with the oral sorbent colestipol: A proof-of-concept clinical trial. J Amer Acad Dermatol. 2014. 70 (2):391-2.
Bloomer JR, Rank JM, Payne WD, et al. Follow-up after liver transplantation for protoporphyric liver disease. Liver Transpl Surg. 1996 Jul. 2(4):269-75. [QxMD MEDLINE Link].
McCullough AJ, Barron D, Mullen KD, et al. Fecal protoporphyrin excretion in erythropoietic protoporphyria: effect of cholestyramine and bile acid feeding. Gastroenterology. 1988 Jan. 94(1):177-81. [QxMD MEDLINE Link].
Gorchein A, Foster GR. Liver failure in protoporphyria: long-term treatment with oral charcoal. Hepatology. 1999 Mar. 29(3):995-6. [QxMD MEDLINE Link].
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. 1988 Dec. 33(12):1621-5. [QxMD MEDLINE Link].
Dellon ES, Szczepiorkowski ZM, Dzik WH, et al. Treatment of recurrent allograft dysfunction with intravenous hematin after liver transplantation for erythropoietic protoporphyria. Transplantation. 2002 Mar 27. 73(6):911-5. [QxMD MEDLINE Link].
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. 2002 Feb 15. 73(3):469-72. [QxMD MEDLINE Link].
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. 2000 Nov. 18(3):298-309. [QxMD MEDLINE Link].
Eichbaum QG, Dzik WH, Chung RT, Szczepiorkowski ZM. Red blood cell exchange transfusion in two patients with advanced erythropoietic protoporphyria. Transfusion. 2005 Feb. 45(2):208-13. [QxMD MEDLINE Link].
Dowman JK, Gunson BK, Mirza DF, Badminton MN, Newsome PN,. UK experience of liver transplantation for erythropoietic protoporphyria. J Inherit Metab Dis. 2011 Apr. 34(2):539-45. [QxMD MEDLINE Link].
Meerman L, Verwer R, Slooff MJ, et al. Perioperative measures during liver transplantation for erythropoietic protoporphyria. Transplantation. 1994 Jan. 57(1):155-8. [QxMD MEDLINE Link].
Wahlin S, Srikanthan N, Hamre B, Harper P, Brun A. Protection from phototoxic injury during surgery and endoscopy in erythropoietic protoporphyria. Liver Transpl. 2008 Sep. 14(9):1340-6. [QxMD MEDLINE Link].
Graham-Brown MP, Ilchyshyn A. Development of acute phototoxic reaction during surgery in a patient with erythropoietic protoporphyria. Clin Exp Dermatol. 2013 Jul. 38 (5):566-8; quiz 568. [QxMD MEDLINE Link].
Morris SD, Mason NG, Elder GH, Hawk JL, Sarkany RP. Ferrochelatase gene polymorphism analysis for accurate genetic counselling in erythropoietic protoporphyria. Br J Dermatol. 2002 Sep. 147(3):572-4. [QxMD MEDLINE Link].
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. 2000 Oct. 159(10):719-25. [QxMD MEDLINE Link].
Redeker AG, Sterling RE. The "glucose effect" in erythropoietic protoporphyria. Arch Intern Med. 1968 May. 121(5):446-8. [QxMD MEDLINE Link].
Bonkovsky HL, Schned AR. Fatal liver failure in protoporphyria. Synergism between ethanol excess and the genetic defect. Gastroenterology. 1986 Jan. 90(1):191-201. [QxMD MEDLINE Link].

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Author

Jose A Plaza, MD Director of Dermatopathology, Professor of Pathology and Dermatology, The Ohio State University Wexner Medical Center

Jose A Plaza, MD is a member of the following medical societies: American Medical Association, American Society for Clinical Pathology, American Society of Dermatopathology, International Society of Dermatopathology

Disclosure: Nothing to disclose.

Specialty Editor Board

David F Butler, MD Former Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Association of Military Dermatologists, Phi Beta Kappa, Texas Dermatological Society

Disclosure: Nothing to disclose.

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, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology

Disclosure: Received income in an amount equal to or greater than $250 from: Elsevier; WebMD<br/>Served as a speaker for various universities, dermatology societies, and dermatology departments.

Additional Contributors

Maureen B Poh-Fitzpatrick, MD Professor Emerita of Dermatology and Special Lecturer, Columbia University College of Physicians and Surgeons

Maureen B Poh-Fitzpatrick, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, New York Academy of Medicine, New York Dermatological Society

Disclosure: Nothing to disclose.

Acknowledgements

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.

Protoporphyria Medication

Medication Summary

Alpha-Melanocyte Stimulating Hormone Analog

Class Summary

Afamelanotide (Scenesse)

Afamelanotide (Scenesse)

Photoprotectants

Class Summary

Beta carotene (Lumitene)

Beta carotene (Lumitene)

Antihistamines

Class Summary

Fexofenadine (Allegra)

Fexofenadine (Allegra)

Antihistamines, H2 blocker

Class Summary

Cimetidine (Tagamet)

Cimetidine (Tagamet)

Enteric adsorbents

Class Summary

Cholestyramine (Questran)

Cholestyramine (Questran)

Activated charcoal (Actidose)

Activated charcoal (Actidose)

Gallstone dissolution agents

Class Summary

Ursodiol (Actigall)

Ursodiol (Actigall)

Heme analogues

Class Summary

Hemin (Panhematin)

Hemin (Panhematin)

Protoporphyria Medication

Medication Summary

Alpha-Melanocyte Stimulating Hormone Analog

Class Summary

Afamelanotide (Scenesse)

Photoprotectants

Class Summary

Beta carotene (Lumitene)

Antihistamines

Class Summary

Fexofenadine (Allegra)

Antihistamines, H2 blocker

Class Summary

Cimetidine (Tagamet)

Enteric adsorbents

Class Summary

Cholestyramine (Questran)

Activated charcoal (Actidose)

Gallstone dissolution agents

Class Summary

Ursodiol (Actigall)

Heme analogues

Class Summary

Hemin (Panhematin)

References

Tables

Contributor Information and Disclosures

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