Educate Yourself on The Rare Disease Erythropoietic Protoporphyria


It can be frustrating to be diagnosed with a rare disease. When you are told you have a disease like Erythropoietic Protoporphyria (EPP), you may end up questioning why it was you that had to get it. While unfortunate, being diagnosed with a rare disease isn’t the end. Rare diseases can still be dealt with and treated to allow people to live with a high quality of life. 

EPP is a unique condition that is caused due to genetic issues. People who suffer from it need to avoid sunlight, or risk suffering from pain or other symptoms. If you’d like to learn more about the many facets of erythropoietic protoporphyria, then keep reading. Topics include the causes, symptoms and potential treatment of this rare condition. 

Causes of Erythropoietic Protoporphyria

The good news is that the cause of EPP is well known. EPP is a genetic disorder. This means that the genetic code in the body is either slightly incorrect or damaged. Specifically for EPP, this comes down to the FECH gene. This gene is usually responsible for creating an enzyme which helps with the transportation of oxygen throughout the body. The lack of this enzyme is sufficient amounts can lead to a large buildup of protoporphyrins within the tissues in the body. These protoporphyrins are incredibly sensitive to sunlight and react in a significant fashion to it. This is what gives EPP its trademark symptom. 

Symptoms of Erythropoietic Protoporphyria

The main symptom that someone is suffering from EPP has to do with their skin and exposure to the elements. People with EPP will often suffer from severe pain when their skin is exposed to sunlight. In some cases, some artificial forms of light can also produce the same levels of pain. The pain is intended to act as a warning. The longer a person with EPP is exposed to this light, the worse things can become. There are some other symptoms which can occur as well. Other symptoms include: 

  • Edema - This is excess accumulation of body fluids in locations that shouldn’t be collecting fluid. 
  • Inflammation - The skin can become rather inflamed and become persistently red. 
  • Blistering/Lesions - This symptom is one of the rare ones that can occur. Lesions and scarring can occur from the light.This usually only occurs when the exposure to light is for an extended period of time. 
  • Gallstones - This symptom is caused when the bile flow is interrupted in the gallbladder. 
  • Liver Damage - This is a rare symptom, however it can be a severe one for those few people who suffer from it. It’s possible that it progresses to full liver disease and needs a transplant. 
  • Anemia - Typically, this is a low or mild severity of anemia due to low iron levels. 

Symptoms can appear at different times for people with EPP. While they often start as in infant, it’s not uncommon for symptoms to only appear once a person gets to adolescence or adulthood. 

Treatment of Erythropoietic Protoporphyria

The first treatment is fairly obvious. People with EPP needs to stay out of sunlight as much as possible! This can mean wearing protective clothing with long sleeves. It can mean hats and sunglasses and other sun stopping gear. Some people may use some tanning creams and sunscreens which specifically can either reflect the sun, or increase skin pigmentation. 

When it comes to medication, there are drugs which function in implant form. They increase a person’s tolerance to sunlight by increasing pigmentation. Currently this drug is only available in Europe, so Americans are unable to deal with it. 

Other treatment options will depend on the symptoms that are being exhibited. Liver disease could require a liver transplant. Anemia may require iron supplements. Speaking of supplements, it’s no surprise that people with EPP often need to take vitamin D supplements due to their lack of sunlight!

Disclaimer: Information on this website is not meant to encourage the self-management of any health or wellness issue. Nor is it meant to encourage any one type of medical treatment. Any treatment or advice used may have varying results between individuals. Readers with health-related questions, are always encouraged to seek proper consultation with a physician or certified healthcare provider. No information on this website should be used to ignore any medical or health-related advice, nor should it be the root cause for a delay in a consultation with a physician or a certified healthcare provider.

No information on this website should be used to start the use of dietary supplements and vitamins, natural and herbal products, homeopathic medicine and other mentioned products prior to a consultation with a physician or certified healthcare provider.