Erythropoietic protoporphyria is a rare hereditary porphyria "pseudo recessive". The disease appears when a mutated gene has been transmitted by one of the parents and the other parent has a gene decreased frequently in the general population.
The enzyme involved is called ferrochelatase and its deficiency causes an accumulation of a porphyrin called protoporphyrin in the bone marrow. This disease appears in childhood after the first exposure to the sun and affects both boys and girls.
The protoporphyrin greatly increased in the blood accumulates in the skin and causes a very particular painful photosensitivity.
Upon exposure to sunlight, the patient feels tingling, itching or burning without anything visible.
Only after long exposure can the skin become red and swollen. Extreme temperatures and wind also cause the same skin reactions.
The disease could easily be suspected by the description of symptoms and especially by the means used by the patient to calm them: water or a cold surface.
Unfortunately, the diagnostic delay is often very long. It is the analysis of the protoporphyrin level in the blood that will allow the diagnosis to be made.
No treatment for the moment can cure PEP.
- Prevention is mainly based on photoprotection, particularly with adapted sun creams and beta-carotene intake.
- During a painful attack, analgesics, even morphine are very little effective for pain, and some antihistamines can also be used.
- Targeted and correctly dosed phototherapy under medical supervision can bring results.
The National Rare Diseases Center for Porphyria, allows you to obtain all the useful information for a better management of the disease.
French Center of Porphyries
Louis Mourier Hospital AP-HP
178 rue des Renouillers
92701 Colombes Cedex
tel: +33 (0) 1 47 60 63 34
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