Congenital Erythropoietic Porphyria Treatment & Management

Updated: Mar 04, 2016
  • Author: Jeanette L Hebel, MD; Chief Editor: Dirk M Elston, MD  more...
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Treatment

Medical Care

Absolute avoidance of sun exposure is crucial. [6] 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. [7] 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.

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Surgical Care

Bone marrow transplantation is reported to be successful [8] ; 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]

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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.

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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.

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