This document summarizes the diagnosis, management and treatment of erythropoietic protoporphyria (EPP).
The diagnosis of EPP is established by finding an abnormally high "free erythrocyte protoporphyrin" (FEP) test. Note that the zinc protoporphyrin test (ZPP) is not appropriate - be sure to order an FEP test. Quest/MetPath Labs (1-800-222-0061), Smith-Kline Beecham Labs (1-800-832-8355) and Mayo Medical Labs (1-800-533-1710) perform these tests. (Labs may call the test RBC protoporphyrin or red-cell protoporphyrin test.) Your physician's laboratory should call them to find out specimen collection requirements and shipping or pick-up instructions.
Annually, EPP patients should have an FEP test, a complete blood count and a blood chemistry panel including liver chemistries such as bilirubin, SGOT and SGPT. EPP people tend to run low hemoglobins, but not usually so low as to need treatment. To try and prevent anemia, patients should be encouraged to eat iron-containing foods such as red meat, spinach, baked potato with skin, red kidney beans, raisins, etc.. In an occasional patient, protoporphyrin causes liver problems, so monitoring liver function is important. EPP patients should also not use any drug or anesthetic which causes cholestasis (slowing down bile flow), and should also avoid alcohol. Women should avoid medications containing estrogen (birth-control pills, hormone replacement therapy), and men should avoid testosterone, as these substances also can have deleterious effects on an EPP patient's liver.
Beta-carotene is the most effective therapy to date for EPP: the following dosage schedule is recommended.
- For ages 1-4 years: 2-3 30 mg. capsules per day.
- For ages 4-8 years: 3-4 30 mg capsules per day.
- For ages 8-12 years: 4-5 30 mg. capsules per day.
- For ages 12-16 years: 5-6 30 mg. capsules per day.
- For ages 16 and older: 6-10 30 mg capsules per day.
Rarely does a patient need to take more than 6 pills a day - the US FDA did approve up to 10/day. The preparation we recommend, because it has the best bioavailability, is Lumitene (Tishcon - 1-800-848-8442). We do not recommend products containing crystalline carotene in oil because of its poor bioavailability, or algal carotenoid preparations, because of the potential presence of photosensitizers (chlorophyll and other algal products).
Please do not hesitate to contact Dr. Micheline Mathews-Roth if you have any questions.
For more information, email Micheline M. Mathews-Roth, MD or call (617) 525-8249.
Send Feedback to: 
