Erythropoietic Protoporphyria is a disease of porphyrin metabolism characterized by abnormally elevated levels of protoporphyrin IX in erythrocytes (red blood cells), feces and plasma (the fluid portion of circulating blood), and by sensitivity to visible light.  Many different mutations of the ferrochelatase gene have been found in various EPP families. Protoporphyrin accumulates in the bone marrow, red blood cells, and sometimes the liver. Excess protoporphyrin is excreted by the liver into the bile, after which it enters the intestine and is excreted in the feces. The urinary porphyrins are normal.  EPP is inherited as an autosomal dominant trait with poor penetrance.

Swelling, burning, itching, and redness of the skin may appear during or after exposure to sunlight, including sunlight that passes through window glass. This can cause mild to severe burning pain on sun-exposed areas of the skin.  Usually, these symptoms subside in 12 to 24 hours and heal without significant scarring or discoloration of the skin. Occasionally, the skin problems occur only after extended sunlight exposure. The skin lesions may progress to a chronic stage persisting for weeks and healing with superficial scars. However, blistering and scarring is less common than in other types of cutaneous porphyria.  Skin manifestations generally begin during childhood. They are more severe in the summer and can recur throughout life. Other manifestations may include gallstones containing protoporphyrin and, sometimes, severe liver complications. Some carriers of the gene for EPP have no symptoms and may even have normal porphyrin levels.

Diagnosis

The diagnosis of EPP is established by finding an abnormally high free erythrocyte protoporphyrin in the FEP test, which is done on red blood cells.  Note that the zinc protoporphyrin test (ZPP) is not appropriate so it is necessary to order the FEP test.  This test may also be known as the RBC protoporphyrin or red-cell protoporphyrin test. Another appropriate test is the porphyrins, fractionation, erythrocytes or RBC test, which also measures protoporphyrin, along with other porphyrins found in the red blood cells.

The tests can be performed at the following laboratories:

• Porphyria Center Labs University of Texas, 1-409-772-4661
• Quest/MetPath Labs, 1-800-222-0061
• Mayo Medical Labs, 1-800-533-1710 

EPP patients should have the following tests annually: an FEP test, a complete blood count and a blood chemistry panel including liver chemistries such as bilirubin, SGOT and SGPT.  People with EPP 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 supplements, as these substances can also have deleterious effects on the liver of a person with EPP.

Treatments

Since the main symptom of EPP is photosensitivity, it is important to follow protective measures to decrease damage that might result from light.  Sunlight is the first culprit, so an EPP person should avoid the sun according to their personal sensitivity.

Lumitene/Beta-Carotene Treatment 

Beta-carotene is the most effective therapy to date for EPP.  According to Dr. Micheline Mathews-Roth, EPP expert from Harvard University, it is important for EPP patients to ingest the proper formulation of beta-carotene to obtain its greatest beneficial effect. It is also important to make sure the preparation is made with pharmaceutical grade beta-carotene. The pharmaceutical grade formulation having the highest effective absorption is the "dry beta-carotene beadlets, 10%" made by Roche and distributed by Tishcon with the trade name Lumitene. Lumitene can be ordered by calling 1-800-866-0978 or via the website www.epic4health.com.

Please also note that preparations using beta-carotene crystals dissolved in vegetable oil, or beta- carotene-containing algae preparations, or dry beadlets made by other manufacturers are not suitable for use in treating EPP, because these preparations are erratically absorbed by the body, and in the case of algae preparations may contain algal components which might act as photosensitizers. Most brands of over-the-counter beta-carotene use these less-effective preparations, or may mix Roche beadlets with others which are not as well-absorbed. This is why Dr. Roth urges EPP people to use Lumitene and not purchase other brands of beta-carotene pills. These other brands may work well for cancer prevention but do not deliver the high absorption, and thus the high blood levels, needed for the effective treatment of EPP.

For more information about Lumitene, including a recommended dosing schedule, please see the Lumitene section of this website.

Important Considerations

Consult a  specialist.  Because EPP is a rare condition, most physicians are not knowledgeable about it.  Primary care or Emergency Room doctors can contact EPP expert: Dr. Micheline Mathews-Roth, Harvard Medical School, 617-525-8249. The American Porphyria Foundation, 713-266-9617 can also provide further information. 

Alert the anesthesiologist to use an anesthetic that doesn’t block bile flow.

Be careful with medication. Avoid damage to the liver.  Avoid griseofulvin, estrogen or any drugs that block bile flow.

Be careful with surgical lights. Strong operating room lights can cause photosensitivity in internal organs. Cover lights with clear window film, such as CL5-200-X from Madico Co. Keep skin covered with surgical drapes and keep exposed internal organs as covered as possible.   It is extremely important to shield the surgical lights during abdominal surgery.  The approach for superficial surgeries is to shield the skin as much as possible, and to work quickly.  In an emergency situation, where better shielding materials are not available, use as much cloth as possible to shield the site. 

Be careful with lights.  Problems with fluorescent lights are common. Incandescent bulbs are generally acceptable.  However, companies may be changing the filaments and thus varying output.

The risks from surgical lights, anesthetics and drugs are great enough that all EPP patients should wear Medic Alert bracelets, even those who have mild enough cases that they can lead quite normal lives with just a few adjustments.

Drugs

Vitamins:  Taking Vitamins A and D in excess can cause major health problems. Taking beta carotene, even in large doses as for EPP, does not lead to Vitamin A toxicity, because the body stops splitting beta-carotene into Vitamin A when it does not need the Vitamin A any more.  Vitamins E and K can also be toxic at several times the recommended dose.  

Celebrex:  It has been reported that Celebrex, a non-steroidal anti-inflammatory drug (NSAID), helped reduce photosensitivity.  This has not been proven.  NSAIDs are powerful drugs and can cause very severe complications, such as stomach and esophageal ulcers and hemorrhages, and some liver problems.  Thus, if you need to take NSAIDs for arthritis and other conditions and you find that they happen to decrease your photosensitivity, it is important to ask your doctor to monitor your liver chemistries and porphyrin levels every 4-6 months.

Laser Treatments 

Laser treatments for hair removal or eye surgery have been a subject for question.  According to Dr. Roth, laser treatments have not been a problem for EPP people, as long as they check with their doctor as to the output of the laser.  It should not be between 400 and 650 nanometers. In addition, if the person is having hair removal treatment, the doctor should irradiate a small area of the skin to be treated for the length of time it will take to do the hair removal to ascertain if the patient will get any EPP symptoms from the laser radiation. It is important to wait for as long as it usually takes your symptoms to develop following sun exposure.

Dietary Considerations 

There have been a number of reports to suggest that dietary fish oils seem to lessen the symptoms of EPP. At this point, none of these claims can be validated until careful studies under medical supervision are conducted and FDA approval is obtained. This would be a treatment, not a cure.  The oils may work by acting as anti-oxidants.  One major brand of fish oils is Maxepa, distributed by Twin Labs. EPP people sometimes have low hemoglobin. Therefore, it is suggested that you have enough iron in your diet to meet the recommended dietary allowance (RDA) for this nutrient to avoid becoming anemic. The RDA is 10 mg/day for men, 15 mg/day for women 25-50 years, and 10 mg/day for women over 50. For pregnant women, the suggested allowance is 30 mg/day.  It is important to check food labels for iron content.

Women and Osteoporosis 

There are several methods of treating osteoporosis, including increasing calcium intake, exercise, hormone (estrogen/progesterone) replacement therapy in postmenopausal women, testosterone therapy for certain men, and calcitonin. There are some experimental drugs being studied at this time, but they have not yet been approved by the FDA.

For women with EPP, hormone replacement therapy (HRT) can be used if you feel that the benefits outweigh the risks, according to our liver consultant Dr. Joseph Bloomer. The risk is that these hormones may impair protoporphyrin excretion from the liver and thus can lead to liver problems (the reason that EPP people are discouraged from taking birth-control pills).  If you do decide to take HRT, it is crucial to follow closely your protoporphyrin levels and your liver chemistry blood tests (at least twice a year). If there is any increase in either liver chemistry or protoporphyrin levels, HRT should be stopped immediately. Each case must be judged on an individual basis, so do discuss this with your personal physician. For men, osteoporosis is sometimes treated by giving testosterone—this hormone also affects the liver in the same way that estrogen does, thus the same cautions apply.

Youngsters with EPP

Camp Discovery

Camp Discovery offers a wonderful summer camping experience for young people with skin disorders like Porphyria.

Every year, the American Academy of Dermatology sponsors a week of fishing, boating, swimming, water skiing, arts and crafts, and just plain fun.

Under the expert care of dermatologists and nurses, Camp Discovery offers the opportunity to spend a week with other young people who have similar skin conditions. Many of the counselors have serious skin conditions as well, and can provide support and advice to campers.

There is no fee for camp. Full scholarships, including transportation, are provided by the American Academy of Dermatology through generous donations of their members and other organizations. Members of the Academy are asked to recommend candidates for Camp Discovery, so ask your child's doctor about sending your child to Camp Discovery.

Click here to go to the Camp Discovery Website.

Disneyland and Disney World for EPP Kids

Disneyland and Disney World are responsive to people with sun sensitivity. They will provide a pass to enable you to enter attractions without waiting in line in the sun.

Disneyland
Go to "Town Hall" and explain your problem with photosensitivity. You should bring a physician's letter with you as well as an APF brochure explaining the type of Porphyria you have. The staff will ask you some questions about your limitations (e.g., whether or not you can climb stairs) and how many are in your group. Next time you return, be sure to bring the old card with you, as it will only take about half as long to go through the process on your next trip.

Disney World
Proceed to the "Guest Relations" office at any park (Magic Kingdom, EPCOT, etc.) and request the Special Assistance Pass.

Remember to bring a doctor's note and explanation of your condition, because it is not necessarily visible. People on duty may not be familiar with light sensitivity and its consequences.

http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/EPP