eMedicine Specialties > Dermatology > Metabolic Diseases

Congenital Erythropoietic Porphyria: Treatment & Medication

Author: Jeanette L Hebel, MD, Department of Dermatology, Lancaster General Hospital
Coauthor(s): 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: Jan 12, 2009

Treatment

Medical Care

  • Absolute avoidance of sun exposure is crucial. The effects of topical sunscreens are less than satisfactory, but sunscreens may provide some protection if they contain physical light–reflective agents such as zinc oxide or titanium dioxide. Long ultraviolet and visible light wavelengths must be blocked by additional physical means to achieve the protection that most porphyria patients require. Sun-protective clothing should be worn. Commercially available plastic films can be affixed to home and automobile windows to filter out many of the offending wavelengths. Fluorescent lamps can be replaced by incandescent bulbs, which emit less light of porphyrin-exciting wavelengths.
  • Oral beta-carotene has been used with limited benefit.5 Other oral measures that have been used include activated charcoal and cholestyramine to interrupt and prevent reabsorption of porphyrins. The large doses required of all of the oral agents often make their use somewhat impractical.
  • Attempts to reduce erythropoiesis and lower circulating porphyrin levels by means of erythrocyte transfusions have been successful in reducing the expression of the disease. However, the complications of a chronic transfusion regimen are potentially severe. Severe hemolytic anemia with subsequent splenomegaly is one of the most pronounced consequences of erythropoietic porphyria. Splenectomy decreases the hemolytic anemia by increasing the lifespan of erythrocytes; however, the benefits are short lived.
  • The use of oral alpha-tocopherol and ascorbic acid to quench reactive oxygen radicals has been advocated to reduce porphyrin-sensitized photodamage to skin elements and circulating erythrocytes.
  • Topical lubrication of the eyes improves the dry eye symptoms and may stabilize visual function.

Surgical Care

  • Bone marrow transplantation is reported to be successful; however, the long-term results are unknown. Life-threatening infectious complications limit the applicability of this therapeutic approach.6,7,8

    Stem cell cord blood transplantation has also been reported successful in a few patients.9

Consultations

  • A dermatologist may be consulted regarding sun avoidance measures and the treatment of secondary skin infections.
  • An ophthalmologist can monitor ocular complications.
  • A hematologist may be consulted to manage chronic transfusion therapy and to consider bone marrow transplantation.
  • A surgeon may be consulted for splenectomy when hemolytic anemia is severe.
  • An oral surgeon may be consulted for the application of dental resins to cover reddened teeth for cosmetic purposes.

Activity

  • Absolute avoidance of sun exposure must be practiced.
  • Sun-protective clothing, hats, and physical sunscreens should be used during daily activities.
  • Avoidance of mechanical trauma is advised to lessen erosions and resultant scarring.

Medication

The goals of pharmacotherapy are to reduce morbidity and prevent complications.

Oral photoprotectants

Oral photoprotectants may prevent tissue damage due to light exposure, possibly by forming an internal light screen.


Beta-carotene (Lumitene)

Exact mechanism of action not completely elucidated. Patient must be carotenemic before effects are observed. More than 1 internal light screen may be responsible for effects. May provide a limited level of photoprotection. Causes yellowing of skin (eg, carotenoderma). Photoprotection increases slowly over 4-6 weeks after treatment begins. When discontinued, skin color and benefits diminish over several weeks.

Adult

120-300 mg/d PO in divided doses

Pediatric

30-120 mg/d PO in divided doses

Coadministration with vitamin A may have additive toxic effects

Pregnancy

C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus

Precautions

Caution in renal or hepatic impairment; may increase risk for lung cancer in heavy smokers; may cause orange stools and diarrhea or loose stools at onset of therapy (These tend to resolve with continued use.)

More on Congenital Erythropoietic Porphyria

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

  1. Hillenkamp J, Reinhard T, Fritsch C, Kersten A, Böcking A, Sundmacher R. Ocular involvement in congenital erytropoietic porphyria (Günther's disease): cytopathological evaluation of conjunctival and corneal changes. Br J Ophthalmol. Mar 2001;85(3):371. [Medline].

  2. Berry AA, Desnick RJ, Astrin KH, Shabbeer J, Lucky AW, Lim HW. Two brothers with mild congenital erythropoietic porphyria due to a novel genotype. Arch Dermatol. Dec 2005;141(12):1575-9. [Medline].

  3. Phillips JD, Steensma DP, Pulsipher MA, Spangrude GJ, Kushner JP. Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. Blood. Mar 15 2007;109(6):2618-21. [Medline].

  4. Egbert BM, LeBoit PE, McCalmont T, Hu CH, Austin C. Caterpillar bodies: distinctive, basement membrane-containing structures in blisters of porphyria. Am J Dermatopathol. Jun 1993;15(3):199-202. [Medline].

  5. Mathews-Roth MM. Treatment of the cutaneous porphyrias. Clin Dermatol. Mar-Apr 1998;16(2):295-8. [Medline].

  6. Desnick RJ, Astrin KH. Congenital erythropoietic porphyria: advances in pathogenesis and treatment. Br J Haematol. Jun 2002;117(4):779-95. [Medline].

  7. Kauffman L, Evans DI, Stevens RF, Weinkove C. Bone-marrow transplantation for congenital erythropoietic porphyria. Lancet. Jun 22 1991;337(8756):1510-1. [Medline].

  8. Tezcan I, Xu W, Gurgey A, Tuncer M, Cetin M, Oner C, et al. Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation. Blood. Dec 1 1998;92(11):4053-8. [Medline].

  9. Harada FA, Shwayder TA, Desnick RJ, Lim HW. Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation. J Am Acad Dermatol. Aug 2001;45(2):279-82. [Medline].

  10. Fritsch C, Bolsen K, Ruzicka T, Goerz G. Congenital erythropoietic porphyria. J Am Acad Dermatol. Apr 1997;36(4):594-610. [Medline].

  11. Jensen JD, Resnick SD. Porphyria in childhood. Semin Dermatol. Mar 1995;14(1):33-9. [Medline].

  12. Lazebnik N, Lazebnik RS. The prenatal presentation of congenital erythropoietic porphyria: report of two siblings with elevated maternal serum alpha-fetoprotein. Prenat Diagn. Apr 2004;24(4):282-6. [Medline].

  13. Lim HW, Murphy GM. The porphyrias. Clin Dermatol. Jul-Aug 1996;14(4):375-87. [Medline].

  14. Mascaro JM. The porphyrias: a brief overview based on 25 years of experience (1969-1994) by the Department of Dermatology of the Hospital Clinic and Faculty of Medicine of Barcelona, Spain. J Dermatol. Nov 1995;22(11):823-8. [Medline].

  15. Poh-Fitzpatrick MB. Clinical features of the porphyrias. Clin Dermatol. Mar-Apr 1998;16(2):251-64. [Medline].

  16. Poh-Fitzpatrick MB. The porphyrias. In: Arndt KA, Robinson JK, Leboit PE, Wintroub BU, eds. Cutaneous Medicine and Surgery: An Integrated Program in Dermatology. Vol 2. Philadelphia, Pa: WB Saunders; 1996:1753-62.

  17. Zaider E, Bickers DR. Clinical laboratory methods for diagnosis of the porphyrias. Clin Dermatol. Mar-Apr 1998;16(2):277-93. [Medline].

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Further Reading

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Keywords

erythropoietic porphyria, Gunther's disease, Gunther disease, congenital erythropoietic porphyria, congenital porphyria, porphyria erythropoietica, congenital hematoporphyria, erythropoietic uroporphyria, porphyrin synthesis, heme synthesis, EP, uroporphyrinogen III synthase

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Contributor Information and Disclosures

Author

Jeanette L Hebel, MD, Department of Dermatology, Lancaster General Hospital
Jeanette L Hebel, MD is a member of the following medical societies: American Academy of Dermatology and American College of Mohs Surgery
Disclosure: Nothing to disclose.

Coauthor(s)

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

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.

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

Christen M Mowad, MD, Associate Professor, Department of Dermatology, Geisinger Medical Center
Christen M Mowad, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, and Phi Beta Kappa
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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