Erythropoietic protoporphyria: Difference between revisions
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{{Infobox medical condition | |||
| name = Erythropoietic protoporphyria | |||
| image = [[File:Chronic_skin_lesions_of_EPP.jpg|250px]] | |||
| caption = Chronic skin lesions of Erythropoietic protoporphyria | |||
| synonyms = EPP | |||
| pronounce = | |||
| specialty = [[Hematology]], [[Dermatology]] | |||
| symptoms = [[Photosensitivity]], [[skin lesions]], [[liver dysfunction]] | |||
| onset = Childhood | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] in the [[FECH]] gene | |||
| risks = | |||
| diagnosis = [[Blood test]], [[genetic testing]] | |||
| differential = [[Porphyria cutanea tarda]], [[Solar urticaria]] | |||
| treatment = [[Beta-carotene]], [[afamelanotide]], [[sun protection]] | |||
| medication = | |||
| prognosis = Variable, risk of [[liver disease]] | |||
| frequency = 1 in 75,000 to 1 in 200,000 | |||
| deaths = Rare | |||
}} | |||
'''Erythropoietic protoporphyria''' ('''EPP''') is a rare [[metabolic disorder]] that primarily affects the [[skin]] and, in some cases, the [[liver]]. It is one of the most common types of [[porphyria]] and is caused by a deficiency in the enzyme [[ferrochelatase]]. | '''Erythropoietic protoporphyria''' ('''EPP''') is a rare [[metabolic disorder]] that primarily affects the [[skin]] and, in some cases, the [[liver]]. It is one of the most common types of [[porphyria]] and is caused by a deficiency in the enzyme [[ferrochelatase]]. | ||
== Symptoms == | == Symptoms == | ||
The main symptom of EPP is [[photosensitivity]], resulting in painful, itchy skin lesions on exposure to sunlight. Other symptoms can include redness, swelling, and a burning sensation on the skin. In severe cases, exposure to sunlight can cause second-degree burns. | The main symptom of EPP is [[photosensitivity]], resulting in painful, itchy skin lesions on exposure to sunlight. Other symptoms can include redness, swelling, and a burning sensation on the skin. In severe cases, exposure to sunlight can cause second-degree burns. | ||
== Causes == | == Causes == | ||
EPP is caused by mutations in the [[FECH]] gene, which provides instructions for making the enzyme ferrochelatase. This enzyme is involved in the last step of the heme production pathway. Heme is a vital molecule for all of the body's organs. It is a component of hemoglobin, the molecule that carries oxygen in the blood. | EPP is caused by mutations in the [[FECH]] gene, which provides instructions for making the enzyme ferrochelatase. This enzyme is involved in the last step of the heme production pathway. Heme is a vital molecule for all of the body's organs. It is a component of hemoglobin, the molecule that carries oxygen in the blood. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of EPP is based on the clinical symptoms, a physical examination, and specialized tests that measure the porphyrins in the blood, urine, and stool. Genetic testing can also be done to identify mutations in the FECH gene. | Diagnosis of EPP is based on the clinical symptoms, a physical examination, and specialized tests that measure the porphyrins in the blood, urine, and stool. Genetic testing can also be done to identify mutations in the FECH gene. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for EPP. Treatment is focused on managing symptoms and includes avoiding sunlight, wearing protective clothing, and in some cases, taking medication to reduce the skin's sensitivity to sunlight. In severe cases, a liver transplant may be necessary. | There is currently no cure for EPP. Treatment is focused on managing symptoms and includes avoiding sunlight, wearing protective clothing, and in some cases, taking medication to reduce the skin's sensitivity to sunlight. In severe cases, a liver transplant may be necessary. | ||
== See also == | == See also == | ||
* [[Porphyria]] | * [[Porphyria]] | ||
* [[Photosensitivity]] | * [[Photosensitivity]] | ||
* [[Liver transplant]] | * [[Liver transplant]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
{{stub}} | {{stub}} | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Skin conditions]] | [[Category:Skin conditions]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 14:32, 6 April 2025
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| Erythropoietic protoporphyria | |
|---|---|
| File:Chronic skin lesions of EPP.jpg | |
| Synonyms | EPP |
| Pronounce | |
| Specialty | Hematology, Dermatology |
| Symptoms | Photosensitivity, skin lesions, liver dysfunction |
| Complications | N/A |
| Onset | Childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the FECH gene |
| Risks | |
| Diagnosis | Blood test, genetic testing |
| Differential diagnosis | Porphyria cutanea tarda, Solar urticaria |
| Prevention | N/A |
| Treatment | Beta-carotene, afamelanotide, sun protection |
| Medication | |
| Prognosis | Variable, risk of liver disease |
| Frequency | 1 in 75,000 to 1 in 200,000 |
| Deaths | Rare |
Erythropoietic protoporphyria (EPP) is a rare metabolic disorder that primarily affects the skin and, in some cases, the liver. It is one of the most common types of porphyria and is caused by a deficiency in the enzyme ferrochelatase.
Symptoms[edit]
The main symptom of EPP is photosensitivity, resulting in painful, itchy skin lesions on exposure to sunlight. Other symptoms can include redness, swelling, and a burning sensation on the skin. In severe cases, exposure to sunlight can cause second-degree burns.
Causes[edit]
EPP is caused by mutations in the FECH gene, which provides instructions for making the enzyme ferrochelatase. This enzyme is involved in the last step of the heme production pathway. Heme is a vital molecule for all of the body's organs. It is a component of hemoglobin, the molecule that carries oxygen in the blood.
Diagnosis[edit]
Diagnosis of EPP is based on the clinical symptoms, a physical examination, and specialized tests that measure the porphyrins in the blood, urine, and stool. Genetic testing can also be done to identify mutations in the FECH gene.
Treatment[edit]
There is currently no cure for EPP. Treatment is focused on managing symptoms and includes avoiding sunlight, wearing protective clothing, and in some cases, taking medication to reduce the skin's sensitivity to sunlight. In severe cases, a liver transplant may be necessary.
See also[edit]
References[edit]
<references />
