Version July 2025
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What is porphyria? —
This is a condition that affects how the body makes a substance called "heme." Heme contains iron and helps blood cells carry oxygen around the body.
In people with porphyria, problems making heme can cause certain substances to build up in the body. This can cause symptoms.
There are several different kinds of porphyria:
●"Cutaneous" porphyrias cause skin symptoms. "Cutaneous" means skin.
●"Acute" porphyrias cause symptoms like belly pain, seizures, and changes in brain function or mood. They are called "acute" because the symptoms can start suddenly.
Erythropoietic protoporphyria ("EPP") and X-linked protoporphyria ("XLP") are cutaneous porphyrias. In both, a substance called "protoporphyrin" builds up in the blood and skin.
EPP and XLP are caused by changes in genes that are passed on from parents to children. EPP is more common than XLP.
What are the symptoms of EPP and XLP? —
Symptoms typically start in young children and continue throughout the person's life. Symptoms might appear for the first time in adults, but this is rare.
The main symptom is a painful skin reaction that happens right after being in sunlight:
●The main areas that are affected are the face and hands.
●The reaction usually starts with itching, tingling, stinging, or mild burning. If the person does not get out of the sunlight, the reaction can turn into severe burning pain. The skin can swell and might look red, like a sunburn. Some people get a rash that looks like small dots on their face.
●Some people have a reaction as soon as they are in sunlight, within minutes. Other people can be in the sun for some time before the reaction begins.
●Sunlight passing through a window or car windshield can also cause a skin reaction in people with EPP or XLP. It's even possible to have a reaction to strong indoor lights, like fluorescent light bulbs or the lights in an operating room.
●The skin reaction and pain usually last a few days and then go away without serious scarring. Over time, the skin over the knuckles might become thick.
Sometimes, EPP and XLP can lead to other problems. These are less common. They include:
●Gallstones – These are small stones that form inside the gallbladder, a small organ under the liver. They can cause belly pain, nausea, and vomiting.
●Liver disease – Although it is rare, some people with EPP or XLP get liver disease. This can cause pain, often in the upper right area of the belly. It can also cause nausea, vomiting, and jaundice (a condition that turns skin and eyes yellow).
●Having too little iron – This can cause something called "anemia," which is when the body does not make enough red blood cells. Anemia can make you feel tired or weak.
●Low vitamin D – People get vitamin D from the sun, as well as certain foods and drinks. People with EPP or XLP need to avoid sunlight, so they might not get enough vitamin D.
Will I need tests? —
Yes. If you might have EPP or XLP, your doctor will order a blood test to measure the amount of protoporphyrin in your red blood cells. It's important that this test be done in a lab that understands porphyria testing. This is because some labs do not understand the testing and do it wrong. Only blood can be tested for porphyria, not urine or stool.
If the first test is positive, you will get more blood tests. These might include tests for changes in a gene that causes EPP or XLP.
Some people might have other tests before finding out they have EPP or XLP. That's because many different conditions can cause the skin to react to sunlight.
If you have EPP or XLP, you will need blood tests throughout your life, including:
●Regular blood tests to check that you are getting enough iron and vitamin D
●Tests to check how well your liver is working
●Tests to measure protoporphyrin about once a year, especially if your liver is not working well
How are EPP and XLP treated? —
The main treatment is to protect yourself (or your child) from the sun and other strong lights.
●Protect your skin:
•Wear a hat, long sleeves, and gloves whenever you are outside.
•Use a mineral sunscreen. This can help block some of the sun's rays, but it cannot completely prevent the skin reaction that happens in EPP and XLP.
•Get special tinted glass for your house and car windows.
•Avoid bright lights inside if they cause skin symptoms.
•If you need surgery, tell your surgeon and anesthesiologist you have EPP or XLP. That way, they can protect you from lights in the operating room.
•For bad skin pain, cold compresses can help. Pain medicines usually do not help.
•Afamelanotide is a medicine that comes as an implant. It is only used in adults. It is injected under the skin every other month. It makes your skin darker and better able to tolerate sunlight. This means you might be able to spend more time outside before you start having skin symptoms.
If you cannot use afamelanotide, you can try a medicine called beta-carotene. It comes as pills you can buy without a prescription. It makes the skin turn a yellow or orange color, especially the palms of the hands. It might help you stay outside longer.
●Protect your liver:
•It's important to get vaccines to protect against hepatitis A and B. These viruses affect the liver.
•Do not drink a lot of alcohol. Too much alcohol can harm the liver.
•Avoid certain medicines that can increase your risk of liver problems.
●Get enough vitamin D and iron:
•Depending on your vitamin D level, your doctor might suggest you take a vitamin D supplement. It's important to get enough vitamin D to keep your bones strong.
•If you do not have enough iron, your doctor might suggest you take an iron supplement. This might be more likely to help in people with XLP than EPP. Do not take iron without talking to your doctor, because some people have too much iron, which can cause other problems.
What if I want to have children? —
People with EPP or XLP can have children. Some people even notice their skin seems less sensitive to light while they are pregnant.
A porphyria expert or genetic counselor can help you understand the chance your child will have EPP or XLP.
Patient education: Porphyrias (The Basics)
Patient education: Porphyria cutanea tarda (The Basics)
Patient education: Acute intermittent porphyria (The Basics)
Patient education: Low iron (The Basics)
Patient education: Vitamin D deficiency (The Basics)
Patient education: Anemia caused by low iron in adults (Beyond the Basics)
Patient education: Vitamin D deficiency (Beyond the Basics)
