How is erythropoietic Protoporphyria treated?
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Treatment includes avoiding sun and UV light exposure, vitamin D supplements, creams for tanning, and using protective clothing.
Can erythropoietic Protoporphyria be cured?
EPP is the third most common porphyria—estimated to occur in about 1 in about 74,300 individuals—and the type most often seen in children. Women and men appear to be equally affected. While there is currently no known cure for EPP, there are ways to manage it.
What are the treatment options of porphyria?
Acute porphyrias Treatment may include: Injections of hemin, a medication that is a form of heme, to limit the body’s production of porphyrins. Intravenous sugar (glucose), or sugar taken by mouth, if able, to maintain an adequate intake of carbohydrates.
Is erythropoietic Protoporphyria life threatening?
For some people, erythropoietic porphyria leads to liver failure. If this occurs, a liver transplant can be a life-saving treatment. Some types of acute porphyrias cause muscle weakness. Muscle problems can be life-threatening if weakness affects the muscles that make respiration (breathing) possible.
How do you test for erythropoietic protoporphyria?
The diagnosis is made upon finding increased levels of the protoporphyrin in the plasma or red blood cells in both EPP and XLP. Genetic testing is useful to confirm the diagnosis. Patients with EPP and XLP may also have mild anemia (low blood counts). In many cases, this may be due to low iron stores.
How common is erythropoietic protoporphyria?
They are the most common Porphyria in children. EPP is caused by a lack of the enzyme, ferrochelatase due to mutations in the FECH gene. Erythropoietic Protoporphyria affects males and females in equal numbers. It is estimated that the disorder occurs in about 1 in about 74,300 individuals.
How do you get erythropoietic porphyria?
Causes. Congenital erythropoietic porphyria is inherited as an autosomal recessive genetic condition. Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each parent.
What causes protoporphyria?
These disorders are usually inherited, meaning they are caused by gene mutations link passed from parents to children. If you have porphyria, cells fail to change chemicals in your body—called porphyrins and porphyrin precursors—into heme, the substance that gives blood its red color.
Is protoporphyria recessive or dominant?
X-linked protoporphyria is caused by mutations of the ALAS2 gene and is inherited in an X-linked dominant pattern. Males often develop a severe form of the disorder while females may not develop any symptoms (asymptomatic) or can develop a form as severe as that seen in males.
Is protoporphyria recessive?
Porphyrias with an autosomal recessive pattern of inheritance include ALAD deficiency porphyria, congenital erythropoietic porphyria, and some cases of erythropoietic protoporphyria. When erythropoietic protoporphyria is caused by mutations in the ALAS2 gene, it has an X-linked dominant pattern of inheritance.
Is erythropoietic protoporphyria rare?
Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder caused by a deficiency of the enzyme ferrochelatase (FECH), which results from changes (mutations) in the FECH gene.