Erythropoietic protoporphyria(EPP) is one of several rare inherited disorders calledporphyrias.
This leads to a buildup of a protein called protoporphyrin that can make their skin very sensitive to sunlight.
These symptoms usually begin in childhood and persist throughout a patients life.
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While there is currently no known cure for EPP, there are ways to manage it.
This article looks at the symptoms and causes of erythropoietic protoporphyria, including how the condition is treated.
Patients often notice the symptoms happen more frequently in the summer.
These symptoms can range from mild annoyances to severe and debilitating.
Symptoms usually go away within 24 hours.
What Causes Erythropoietic Protoporphyria?
EPP is most often triggered by mutations in theferrochelatasegene (FECH).
Less frequently, EPP is triggered by mutations in another gene called delta-aminolevulinicacid synthase-2 gene (/ALAS2/).
When this gene causes the condition, its referred to as X-linked protoporphyria (XLP).
The mutations in the FECH gene are passed down in a pattern calledautosomal recessive.
This means that one parent has a very strong mutation and the other has a weaker one.
A child receives both mutations, but the stronger mutation dominates the weaker one.
If they dont have symptoms, they are whats called a carrier.
The protoporphyrin builds up in the bone marrow, the blood cells, and the liver.
Children may lack the language to express they are in pain.
EPP is also a very rare condition.
As a result, many pediatricians and general practitioners may not be familiar with it.
There are several tests to detect abnormal levels of protoporphyrin in the blood, urine, and feces.
Additionally,genetic testingmay reveal the specific mutations in the FECH gene.
Erythropoietic Protoporphyria Treatment
The most important treatment for patients with EPP is sun protection.
For this reason, patients may also be advised not to drink alcohol.
When patients with EPP undergo surgery, there may need to be special considerations regarding anesthesia.
Are There Medications to Treat Erythropoietic Protoporphyria?
Other skin symptoms may include itching, burning, and swelling.
There is no cure for EEP, and treatment generally involves protecting the skin from sunlight.
Resources likeCamp Discoveryprovide opportunities for children and their families.
American Porphyria Foundation.Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP).
National Organization for Rare Disorders.Erythropoietic protoporphyria and X-linked protoporphyria.
Levy C.Overview of liver involvement in patients with erythropoietic protoporphyria.Gastroenterol Hepatol (N Y).
2023;19(2):104-107.
