How is erythropoietic Protoporphyria treated?
Treatment includes avoiding sun and UV light exposure, vitamin D supplements, creams for tanning, and using protective clothing.
What is erythropoietic Protoporphyria symptoms?
The most common symptom of erythropoietic protoporphyria and X-linked protoporphyria is severe pain on sun exposure. Some patients may also be sensitive to some types of artificial light. When the skin is exposed to sun, patients first develop tingling, itching, and/or burning of the skin.
How do you get erythropoietic porphyria?
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.
How many people in the US have erythropoietic Protoporphyria?
EEP is one of eight inherited genetic disorders that are collectively called porphyria. The American Porphyria Foundation estimate that EPP occurs in about 1 in 74,300 individuals. There is currently no cure. Some people with EEP have a gene called ALAS2.
What remains elevated consistently in variegate porphyria?
Porphobilinogen (PBG) and Aminolevulenic Acid (ALA), porphyrin precursors, are elevated during the attack but may be consistently high in some patients.
Why are photosensitivity in congenital erythropoietic porphyria?
Erythropoietic porphyria is caused by autosomal recessive inheritance of genes that encode abnormal uroporphyrinogen III synthase (UROS) enzyme protein. The resultant deficient activity of this enzyme leads to hemolytic anemia, cutaneous photosensitivity, and their complications.
How often does erythropoietic protoporphyria affect males and females?
Erythropoietic Protoporphyria affects males and females in equal numbers. It is estimated that the disorder occurs in about 1 in about 74,300 individuals. The onset of symptoms affecting the skin usually occurs in infancy; however, in some cases, onset may not occur until adolescence or adulthood. X-linked Protoporphyria affects males and females.
Is there a cure for erythropoietic protoporphyria?
There is no cure for EEP, but focusing on protection from the sun can help manage symptoms. According to the British Skin Foundation, a charity, self-care methods include: Because people with EEP are sensitive to visible light, sunscreens that protect from ultraviolet light are not effective.
What causes a build up of protoporphyrin in the skin?
Erythropoietic protoporphyria (EPP) is one of a group of genetic diseases called the porphyrias. EPP is due to an inherited deficiency of the enzyme ferrochelatase. Reduced activity of this enzyme causes a build-up of the chemical protoporphyrin in the skin; resulting in photosensitivity i.e. the skin is damaged by light.
Can a high level of protoporphyrin cause liver disease?
Abnormally high levels of protoporphyrin can rarely cause liver disease. Prevalence of erythropoietic protoporphyria in Europe varies from 1 in 55,000 to 1 in 150,000 of the population. It affects males and females equally, and people of all races may get erythropoietic protoporphyria.