Erythropoietic Protoporphyria: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Erythropoietic Protoporphyria?
A hematologist (a blood doctor) or a dermatologist (a skin doctor) often cares for erythropoietic protoporphyria, also called EPP. A geneticist (a doctor who treats inherited conditions) can help with testing. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is erythropoietic protoporphyria?
Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder. It is caused by too little of an enzyme, a protein that helps the body do chemical work, called ferrochelatase. Because of this, too much protoporphyrin (a chemical the body makes on the way to heme) builds up in the bone marrow, blood plasma, and red blood cells.
EPP is one of the porphyrias, a group of genetic disorders caused by problems with how the body makes heme. Heme is found especially in the blood and bone marrow, where it carries oxygen. The main symptom of EPP is severe pain on exposure to sunlight and some types of artificial light, such as fluorescent lights.
Symptoms
In the sun, a person with EPP may first feel tingling, itching, or burning of the skin. After continued exposure to light, the skin may become red and swollen. The hands, arms, and face are the most commonly affected areas.
EPP typically does not cause blisters. How much sun a person can handle differs from case to case.
Some people have other problems too:
- Gallstones, which form when the flow of bile through the gallbladder and bile ducts is interrupted.
- Mild anemia, which means low blood counts.
- High liver enzymes on blood tests.
- Rarely, liver damage that can lead to liver failure.
Symptoms usually start in childhood. In some cases they do not start until adolescence or rarely in adulthood.
Causes and who gets it
EPP is caused by genetic changes in the FECH gene. The gene gives the body instructions to make the enzyme ferrochelatase. EPP is passed down in an autosomal recessive manner, which means a child gets a gene change from each parent. Some people with EPP symptoms have a change in a different gene called ALAS2, and this is called X-linked protoporphyria.
EPP affects males and females in equal numbers. It is estimated to occur in about 1 in 75,000 to 1 in 200,000 people in Europe.
How doctors diagnose it
Doctors use a careful exam and special lab tests to diagnose EPP. The key test is a blood test that finds high levels of protoporphyrin in the plasma or red blood cells. Diagnosis is often delayed because blisters are not common and urine tests usually do not find protoporphyrins. Genetic testing can confirm the diagnosis.
Treatment
Avoiding sunlight helps people with EPP. Doctors recommend steps to protect the skin from sunlight. Protective clothing such as long sleeves, hats, and sunglasses also helps. Window tinting or films on car and house windows may help too.
In 2019, the FDA approved Scenesse (afamelanotide) for adults with EPP. Scenesse is an injectable implant. It works by increasing skin pigmentation, which gives protection and improves sun tolerance.
Iron supplements may be given when iron is low. People with EPP are likely to have low vitamin D because they avoid sunlight, so vitamin D supplements are advised. To protect the liver, doctors may recommend avoiding alcohol and getting hepatitis A and B vaccines.
Liver transplant has been done as a life-saving measure for liver failure caused by EPP. It does not cure EPP. If EPP leads to gallstones, treatment typically involves surgery to remove the gallbladder. Patients should be seen at least yearly to check protoporphyrin levels, anemia, liver enzymes, iron, and vitamin D.
When to see a doctor
Severe pain, tingling, or burning of the skin in the sun or under some artificial lights is the main sign of EPP. A blood test can look for it. People with high protoporphyrin levels should be watched closely by a doctor for liver problems that could lead to liver failure.
Call 911 or go to the emergency room if you have severe abdominal pain or pressure, a sudden change in mental status such as confusion, or fainting.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. A direct primary care or concierge doctor can help set up the yearly blood tests and liver checks, follow iron and vitamin D levels, and coordinate care with specialists. Patients should be seen at least yearly.
Common questions
Is erythropoietic protoporphyria inherited?
Yes, EPP is a rare inherited disorder. It is passed down in an autosomal recessive manner. Genetic counseling is recommended for affected people and their families.
Can sunscreen prevent EPP reactions?
Sometimes, for some people. Sunscreens that contain physical reflecting agents (ingredients that bounce light off the skin) may be beneficial to some patients. Avoiding sunlight and wearing protective clothing also help people with EPP.
Does EPP cause liver problems?
Sometimes, but serious liver damage is rare. Some people with EPP form gallstones, and some have high liver enzymes on blood tests. Doctors check liver enzymes at least yearly.
Is there a medicine for EPP?
Yes, for adults. In 2019, the FDA approved Scenesse (afamelanotide) for adults with EPP. It is an implant that works by increasing skin pigmentation.
When do EPP symptoms start?
Symptoms usually start in childhood. In some cases they start in adolescence or rarely in adulthood.
Sources
- NORD (National Organization for Rare Disorders) - Erythropoietic Protoporphyria and X-Linked Protoporphyria
- National Institute of Diabetes and Digestive and Kidney Diseases - Porphyria
- MedlinePlus - Porphyria
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
