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Erythropoietic protoporphyria (EPP )

P hotosensitivity. Erythropoietic protoporphyria (EPP ). By: Erin Kyle, Maham Shahid , and Amanda Okanovic. What is Erythropoietic Protoporphyria (EPP)?. It is a genetic disorder that causes people to become highly sensitive to the sun

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Erythropoietic protoporphyria (EPP )

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  1. Photosensitivity Erythropoieticprotoporphyria (EPP) By: Erin Kyle, MahamShahid, and Amanda Okanovic

  2. What is ErythropoieticProtoporphyria (EPP)? • It is a genetic disorder that causes people to become highly sensitive to the sun • If a person that has EPP is exposed to sunlight, it can cause them to break out in a hurtful, uncomfortable red rash

  3. What Causes It? • It is a inherited mutation that causes the function of the enzyme ferrochelataseto become impaired • Ferrochelataseis responsible for building hemoglobin in the blood but because it is impaired, it doesn’t make heme • The chemical protoporphyrin is a building block of heme • Since the heme is not being produced, the protoporphyrin builds up in the blood • Protoporphyrin is a light sensitive chemical and builds up near the skin

  4. What Happens When You Have It? • When the skin is exposed to sunlight, the skin becomes inflamed • The common reactions are… - Painful red rashes - Painful blisters - Scarring of the skin • In order for people that have this disorder to go outside, they must cover up their whole body • In severe cases, sitting next to a window can cause the skin to break out • It can cause problems with the nervous system • In a few cases, people can contract liver problems

  5. Do You Have It? • Take these tests from a physician… - urine and blood tests - blood gases tests - ultrasound of the abdomen

  6. How Can it be Treated? • There is no cure for EPP • The primary component of treatment is avoiding exposure to sunlight • In specific cases, medication can be given to alleviate the pain of the blisters and rashes • Oral medication can be taken to reduce light sensitivity

  7. THE END Questions? For a summary of the information, please see the handout provided. http://www.dailymail.co.uk/health/article-1307348/Girl-4-suffers-incurable-condition-leaves-allergic-sunlight.html

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