Erythropoietic Protoporphyria - Treatment and Prognosis

Treatment and Prognosis

There is no cure for this disorder; however, symptoms can usually be managed by limiting sun exposure. Protective clothing is also very helpful. Since the photosensitivity results from light in the visible spectrum, most sunscreens (with the exception of light-reflecting substances such as zinc oxide) are of little use. Some individuals may decrease their sun sensitivity with daily doses of beta carotene, though a recent meta analysis of carotene treatment has called its effectiveness into question. Some patients gradually build a protective layer of melanin by regularly exposing themselves for short times to ultraviolet radiation.

EPP is considered one of the least severe of the porphyrias. The ferrochelatase enzyme is the last step before actual heme production and then actual hemoglobin production. The steps before protoporphyrin production also have enzymes that produce intermediaries. If the first enzyme in the production process is defective, that porphyria is generally the most severe. If the next enzyme in the step-wise process is the defective one, the porphyria is generally less severe, and-so-on until the ferrochelatase step. One thing to keep in mind is the fact that low blood sugar activates the cytochrome p450 system. The cytochrome p450 system is the system that contains the subsystem that produces the porphyrin ring. Therefore infusion of glucose into the blood stream to produce slightly higher than normal blood sugar produces relief. Transfusion of healthy blood cells in whole blood into the patient also gives relief. Protoporphyrins sometimes accumulate to toxic levels in the liver, causing liver failure; if this occurs, a liver transplant becomes necessary.

The individual symptoms of this condition are multiple, and many of those symptoms can occur in other conditions. Therefore other diagnoses are often made and the patient can go through life as an undiagnosed and untreated person with EPP.