Congenital Erythropoietic Porphyria Treatment & Management
- Author: Jeanette L Hebel, MD; Chief Editor: Dirk M Elston, MD more...
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. 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.
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.[9, 10, 11]
Stem cell transplantation has also been reported successful.[6, 12, 13]
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.
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.
Katugampola RP, Badminton MN, Finlay AY, Whatley S, Woolf J, Mason N. Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases. Br J Dermatol. 2012 Oct. 167(4):901-13. [Medline].
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. 2001 Mar. 85(3):371. [Medline].
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. 2005 Dec. 141(12):1575-9. [Medline].
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. 2007 Mar 15. 109(6):2618-21. [Medline].
Egbert BM, LeBoit PE, McCalmont T, Hu CH, Austin C. Caterpillar bodies: distinctive, basement membrane-containing structures in blisters of porphyria. Am J Dermatopathol. 1993 Jun. 15(3):199-202. [Medline].
Wenner C, Neumann NJ, Frank J. [Congenital erythropoietic porphyria : An update]. Hautarzt. 2015 Dec 2. [Medline].
Mathews-Roth MM. Treatment of the cutaneous porphyrias. Clin Dermatol. 1998 Mar-Apr. 16(2):295-8. [Medline].
Katugampola RP, Anstey AV, Finlay AY, et al. A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases. Br J Dermatol. 2012 Oct. 167(4):888-900. [Medline].
Desnick RJ, Astrin KH. Congenital erythropoietic porphyria: advances in pathogenesis and treatment. Br J Haematol. 2002 Jun. 117(4):779-95. [Medline].
Kauffman L, Evans DI, Stevens RF, Weinkove C. Bone-marrow transplantation for congenital erythropoietic porphyria. Lancet. 1991 Jun 22. 337(8756):1510-1. [Medline].
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. 1998 Dec 1. 92(11):4053-8. [Medline].
Karakurt N, Tavil B, Azik F, Tunc B, Karakas Z, Uckan-Cetinkaya D. Successful hematopoietic stem cell transplantation in a child with congenital erythropoietic porphyria due to a mutation in GATA-1. Pediatr Transplant. 2015 Nov. 19 (7):803-5. [Medline].
Harada FA, Shwayder TA, Desnick RJ, Lim HW. Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation. J Am Acad Dermatol. 2001 Aug. 45(2):279-82. [Medline].
Poh-Fitzpatrick MB. Clinical features of the porphyrias. Clin Dermatol. 1998 Mar-Apr. 16(2):251-64. [Medline].
Poh-Fitzpatrick MB. The porphyrias. Arndt KA, Robinson JK, Leboit PE, Wintroub BU, eds. Cutaneous Medicine and Surgery: An Integrated Program in Dermatology. Philadelphia, Pa: WB Saunders; 1996. Vol 2: 1753-62.