Erythropoietic protoporphyria (EPP), the most common kind of porphyria to occur in childhood, causes people’s skin to become very sensitive to light. Prolonged exposure to sunshine can cause painful, disfiguring blisters.
“People with EPP are chronically anemic, which makes them feel very tired and look very pale with increased photosensitivity because they can’t come out in the daylight,” says Barry Paw MD, PhD, of the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. “Even on a cloudy day, there’s enough ultraviolet light to cause blistering and disfigurement of the exposed body parts, ears and nose.”
Staying indoors during the day and receiving blood transfusions containing sufficient heme levels can help alleviate some of the disorder’s symptoms. In ancient times, drinking animal blood and emerging only at night may have achieved a similar effect — adding further fuel to the legend of vampires.
Now, Paw and his team of international investigators report […] a newly discovered genetic mutation that triggers EPP. It illuminates a novel biological mechanism potentially responsible for stories of “vampires” and identifies a potential therapeutic target for treating EPP.
Paw suggests that identifying the various gene mutations that contribute to porphyria could pave the way for future therapies that could correct the faulty genes responsible for these related disorders.
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