Erythropoietic Protoporphyria , Jota Leal

Morgan

Morgan is an 11-year-old girl who has erythropoietic protoporphyria. She is a typical active fifth grader who loves to be outdoors when it is safe to do so. Morgan loves Harry Potter, Hunger Games, and Miraculous. When she's not watching these movies and shows, Morgan enjoys acting and likes to play outside with her friends on her skateboard and bike. She has a "high energy" personality and loves to make people laugh. She is smart, athletic, and super fun to be around.
~Colleen, Morgan’s Mom

Erythropoietic Protoporphyria 'Allergic to the Sun'

Erythropoietic Protoporphyria (EPP) is a type of porphyria. Porphyrias are caused by an
abnormality in the heme production process. Heme is essential in enabling our blood cells to
carry oxygen and in breaking down chemical compounds in the liver. Erythropoietic
protoporphyria is caused by pathogenic variants in the FECH gene which leads to impaired activity of ferrochelatase (FECH), an important enzyme in heme production. This results in the build-up of protoporphyrin in the bone marrow, red blood cells, blood plasma, skin, and eventually the liver. Build up of protoporphyrin can cause extreme sensitivity to sunlight, liver damage, abdominal pain, gallstones, and enlargement of the spleen. Inheritance is autosomal recessive.

Artist: Jota Leal

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Beyond the Diagnosis

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