INFO FOR THE PATIENT

When you believe that you or your child has EPP you can better contact a recognized Porphyria Centre (see links), a centre for metabolic illness close-by or local specialist or dermatologist in your area to make an appointment.

Unfortunately, EPP is a rare condition that is not easily recognized by most doctors. It may take along time before you receive the EPP diagnosis,

At the moment that the diagnosis came, you probably had a lot of different emotions at once. Wat now? How further? You may have been relieved to finally have a diagnosis. On the other sides, you may thinking: What now? Wat is EPP? Your first reaction may be of anger or “Why me?”

This site has been made especially for you and/or your children. You can refer doctors, schools and other people for more information about EPP. It is a site where you can find more information and most important of all a site where you can ask questions or share experiences with others like yourself.

Hopefully you will find all your answers on this site. You contributions to this site may also be important to other patients.

Together we make the future of the EPP patient alot easier.

ANNOUNCEMENT:
WE ARE CURRENTLY STARTING WITH A PATIENT ORGANISATION IN BELGIUM – SHOULD YOU BE INTERESTED TO HELP OR BECOME A MEMBER PLEASE CONTACT US AT info@eppinfo.be

EPP is a rare condition and you should weapons yourself with as much as possible information about EPP. EPP is rare, and not every doctor or person you will come across will know about or have heard about the disease. A doctor or other professional probably will not know how to treat you or know what is or is not allowed.

Therefore, it is very important that you accommodate your environment according to your EPP needs to protect yourself against your light sensitivity, as well as to know what is or is not allowed.

You will need to account for the following:

• Protect yourself or your child from all visible light

• Avoidance of alcohol and barbiturates, no birth control pills, no medicine that can do damage to your liver, and do not vast

• Yearly checkup of your gallbladder and liver functions by a specialist

• Yearly checkup of your vitabin D, calcium and iron bloodlevels

left a typical EPP reaction of redness, swelling, pain - right a picture of another reaction with thanks to Tia, a young English patient

The condition usually manifest itself at a young age, but sometimes it can be years before the parents realise that something is wrong or that a patient receives the diagnosis. As a parent you should not feel guilty as even most doctors are not capable of recognising EPP.

EPP can also start at a later age.

A lot of patients are seen as big exaggerators. Doctors and people have them: “You exaggerate”; “You are a hypochondriac because medically we can find nothing wrong”; “your problems are because you are obese or some other excuse.” …

The condition can also manifest itself in different degrees. Some patients are more light sensitive than others. Some patients carry the disease without any symptoms.

Symptoms can vary from patient to patients and it also depends on the degree of light sensitivity of the patient. Please note that not all symptoms are visible.  The most common symptoms are:

• Acute skin reactions, under as well on the visible skin after exposure to visible light

• jaundice

• severe pain that can last till 24 hours after exposure

• skin infections, redness and swelling

• deep tissue pain

• severe itching

• blisters after exposure

• bruising

• skin lesions and scarring

• dry and/or damaged skin

• unexplainable stomachaches

• gallstones

• by small amount of patients occurs sever liver damage

• goosebumps or chills with or without fever

• insomnia because of the pain

• extreme fatigue and exhaustion

• less sweating

• headache

Secondary symptoms can be:

• elevated hemoglobin levels possibly resulting in secondary polycythemia (with symptoms as dizziness, headaches, enlarged spleen, …)

• neurological symptoms

• low vitamin blood levels (A, D, iron, calcium)

• chronic fatigue syndrome

• depression as a result of psycho social

• psychic conditions

Gallstones manifest in the general population at a later age (from about 40 years old). When a child has gallstones, the physicians should always first consider EPP or another rare condition. A child with gallstones should always be examines for the possibility of EPP.

Not all physicians have knowledge about EPP. It is, therefore, very important that a patient weapon him- or herself with as much as possible information or knowledge about EPP.

An EPP patient should self monitor over medication that can damage the liver as well as avoidance of all visible light.

Discuss every thing with your physician or specialist where you under go treatment or care. If you must have an operation it is very important that the operating rooms are adjusted with special filters to avoid serieus and sometimes life threatening phototoxic reactions.

Every EPP patient should visit a liver specialist on a yearly basis to monitor the liver and gallbladder. A regular check-up of your vitamins blood levels and liver functions are very important. A yearly liver biopsy is recommended.

Some patients develop problems with their liver due to accumulation of protoporphyrine levels in the liver. One should avoid all medicine that are bad for the liver and can cause obstruction of the bilirubin in the liver.

At this moment, there is no cure for EPP. The most important treatment for EPP is to protect the exposed skin from exposure through clothes and the adjusting of the environment of the patient (more information later on the page). Living by strict rules is important to prevent an acute EPP reaction

A high factor sunblock of 50+ anti UVA and UVB (factor 85+ in the USA) is recommended, however, not all patients are helped with a sunblock. A sunblock does not protect you from all radiation and especially those where EPP patients are most sensitive for.

One can take betacarotene supplements in high doses, but these must be in pure form (in the States Lumitene) and should not have gel crystals. Betacarotene can lessen light sensitivity in some patients a little bit. Betacarotene can colour the skin orange. In Belgium there is no healthcare payback for Betacarotene.

Some patients develop liver problems because of the accumulation of protoporphyrins. In addition, possible risk factors for liver disease should be avoided. This means that patients should avoid fasting, alcoholic beverages, barbiturates, sulfonamides, estrogen compounds and birth control pills.

Some patients have reported an increase in sensitivity after drinking alcohol. Therefore, it is strongly recommended to avoid drinking alcohol.

Photo-therapy (aka light therapy) can help a patient improve there light sensitivity. The sessions usually start around april – may for about 20+ times. Our experience is that we can only go minutes longer outside, but that we do have a lessening of itching. Unfortunately, we still have daily pain. A patient should not expect a miracle cure but his or her light sensitivity will improve about 3 times. For example, if a patient can normally go out about 10 minutes, he can now expect to go out about 30 minutes; before treatment was exposure 1 hour it will increase to about 3 hours. After stopping treatment, the light sensitivity will slowly increase again and about 2 months later be back as it was.

In the Netherlands and a couple of other countries, there is a trial research into a new drug form the company Clinuvel (see links page). The studies have just started and are still inconclusive whether it works or if it has any bad side effects. Most important there is no study available if the drug can do damage to the liver or other bodily functions in an EPP patient. Cautions is thus advised until research is completed.

It is recommended that every EPP patient obtain a 'Medic Alert' or a SOS talisman. We have a talisman (bought at the Dutch ANWB, Belgian Touring or a jewelry store). A talisman is a chain or bracelet where one can provide all important medical information so that physicians or first aid care persons can see that you need special medical attention. Do not forget to write about EPP and that you have sensitivity to visible light and operating lamps. You can also refer to this website or another for more information.

As an EPP patient or parent of a patient, you must follow or teach your child strict rules to follow to avoid exposure to visible light. With every activity you must keep EPP in mind and take the necessary actions to avoid exposure.

EPP patients should protect there exposed skin from light by wearing clothing in layers, or possibly in combination with UV – protective clothing, gloves, scarf, hat or cap, and sunglasses. Wearing of natural materials like cotton are preferred, especially jeans since they protect better then polyester clothing.

The environment of the patients should also be adjusted according to their needs. UV radition passes through glass and a patient is not safe behind glass. Using special yellow foils on the windows of you house and car can be important.

A large number of patients are also sensitive for artificial lighting, spots, energy-saving lamps and other strong lamps. Lamps also give off radiation. The old fashioned bulb is the best lamp to use.

A high factor sunscreen (europe 50+, states 85+ minimum) anti UV-A and UV-B is recommend, however, not all patients will benefit from it. A sunscreen does not protect for the higher radiations for which most EPP patients are just the most sensitivity to.

Some patients can decrease their sensitivity by taking high dosis of pure beta-carotene (50 to 180 mg). Be aware that carotene can cause the skin to turn orange.  At this moment beta-carotene is not covered in Belgium.

Some patients develop liver problems because of the accumulation of protoporphyrins. In addition, possible risk factors for liver disease should be avoided.  This means that patients should avoid fasting, alcoholic beverages, barbiturates, sulfonamides, estrogen compounds and birth control pills.
Some patients have reported an increase in sensitivity after drinking alcohol. Therefore, it is strongly recommended to avoid drinking alcohol. 

Most patient can still attend school or go to work when they have changed their school or work environment and take precautionary measures accordingly. Do not forget to keep your transport measurement in account.

To prevent from bullying at school, ask the school for a meeting or a special class education about EPP. You can always refer your school to the special children's page on this website.

When the EPP diagnosis has fallen, you as parent or patient may feel at first relieved that you finally have received a diagnosis. More often than not, follows a feeling of anger and frustration.

You may have experienced incomprehension or were seen as an exaggerator.

It is important that you speak with your family and treating physician about this. It is not easy to get a diagnosis as EPP nor for the patients family and environment. The diagnosis can bring big changes in ones live.

Patients can also feel as social outcast. You will maybe not be able to sit outside with you co-workers or attend a barbecue outside.

We are in the process of starting a Belgian self-help group and platform so that patients can exchange information and experiences.

If you should feel depressed or have any other medical problems talk about with your physician or another professional confidential counsellor.

In Belgium you can apply for a parking card or other benefits by the OCMW of your township.

We recommend you check in you own home country for which benefits you may apply.

At the moment we are in the process of starting the first Belgian EPP platform. If you are interested in helping us of wishes to become a member, please contact us.

We are also a member of the Dutch platform 'Vereniging van patienten met Erythropoetische Protoporphyrie." (www.epp.info).

For other platforms please see links.

Here follows some questions that I recently received. If you have any questions feel free to forward these to me and I will give you an answer or find the answer for you.

> What happend when you had a phototoxic reaction?

Last december my gallbladder was removed and a part of my liver (due to the EPP). The operating room was adjusted with special filters, but I still had a phototoxic reaction on the lights. The exposed skin was burned and I still have a dark brown rectangle on my stomach in the liver region. My scar is thick and red and still burns and hurts like I'm being branded with an Iron. The scar had to be cut open several times after the surgery because it would not heal properly and start with infectious holes. The skin on the rectangle has no feeling at the moment. I hope that overtime it will come back.

> What about the dentist and eye doctor visits? Do we need to do anything different there?

The lights can be quite strong and burn. Your son may not feel it at the time but can get burnmarks. You should tell the dentist he has EPP. Also you should be carefull with anestetics.

> I also had my children on a basic multi-vitamin but found that it contained an algael based ingredient? Are there other things (foods, Drugs) that can cause a problem?

EPP patients that do not get a minimum of 15 minutes direct sunlight need supplements of 10 milligram of vitamin D3 so that their body can absorb calcium. Many EPP patients also have irondeficiencies. You should have your dokter check
his levels. I've been told that other supplements especially multi-vitamin are not that good for EPP patients as our bodies do not absorb it as well. You should be carefull which D supplements you give him as it may contain other vitamins as well.

> A friend had thought also that a sunless tan might help a little because it would cause a bit of a barrier? My son is very fair. What do you think?

A recent Dutch study and several other international studies have proven that a sunless tann will make the EPP patient more sensitive to light. It is not recommended to do this as it will cause more harm than good. It causes no protection at all!

> Do EPP patients have changes in their urine color?  I also have a 10 month old son and the pediatrician says that there is no reason to test him yet, but I would rather avoid 3-4 years of upset before he is able to tell us that something is wrong?

EPP patients do not have changes in their urine color. The protoporphyrines are not watersoluable and leave the body via the feces (hence the stomachaches). If the urine does change color then it is possible that the patient has a
dualporphyria. To test your other son, only a simple bloodtest will suffice. Blood is taken and the tube is covered with aluminum so that light can not affect the blood and the porphyrine level is counted.