Erythropoietic Protoporphyria

Common Name(s)

Erythropoietic Protoporphyria

Erythropoietic protoporphyria 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 impaired activity of ferrocheletase, 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 liver. Build up of protoporphyrin can cause extreme sensitivity to sunlight, liver damage, abdominal pain, gallstones, and enlargement of the spleen.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Erythropoietic Protoporphyria" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Erythropoietic Protoporphyria" returned 68 free, full-text research articles on human participants. First 3 results:

Clinical and biochemical improvement following low-dose intravenous iron therapy in a patient with erythropoietic protoporphyria.
 

Author(s): Douglas P Bentley, Elizabeth M Meek

Journal: Br. J. Haematol.. 2013 Oct;163(2):289-91.

 

Last Updated: 7 Oct 2013

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Erythropoietic protoporphyria and early onset of cholestasis.
 

Author(s): Mani Jeh Khalili, Fatemeh Farahmand, Armin Hirbod-Mobarakeh, Azizollah Yousefi, Soheila Sotoudeh, Maryam Monajemzadeh, Anahita Razaghian, Nima Rezaei

Journal: Turk. J. Pediatr.. ;54(6):645-50.

 

Erythropoietic protoporphyria (EPP) is an inherited defect of mitochondrial ferrochelatase. This defect results in accumulation of protoporphyrin in erythrocytes, plasma, liver, and skin, which causes severe photosensitivity. Liver disease can occur in 1-4% of the patients with EPP, ...

Last Updated: 22 May 2013

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Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.
 

Author(s): Manisha Balwani, Dana Doheny, David F Bishop, Irina Nazarenko, Makiko Yasuda, Harry A Dailey, Karl E Anderson, D Montgomery Bissell, Joseph Bloomer, Herbert L Bonkovsky, John D Phillips, Lawrence Liu, Robert J Desnick,

Journal:

 

Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inborn errors of heme biosynthesis with the same phenotype but resulting from autosomal recessive loss-of-function mutations in the ferrochelatase (FECH) gene and gain-of-function mutations in the X-linked erythroid-specific ...

Last Updated: 13 May 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Erythropoietic Protoporphyria" returned 5 free, full-text review articles on human participants. First 3 results:

Liver disease and erythropoietic protoporphyria: a concise review.
 

Author(s): María José Casanova-González, María Trapero-Marugán, E Anthony Jones, Ricardo Moreno-Otero

Journal: World J. Gastroenterol.. 2010 Sep;16(36):4526-31.

 

The porphyries are a group of metabolic disorders characterized by deficiencies in the activity of enzymes involved in the biosynthesis of heme. In erythropoietic protoporphyria (EPP), in the majority of cases an autosomal dominant disease, there is a mutation of the gene that encodes ...

Last Updated: 21 Sep 2010

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Erythropoietic protoporphyria.
 

Author(s): Mario Lecha, Hervé Puy, Jean-Charles Deybach

Journal:

 

Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. EPP has been reported worldwide, with prevalence between ...

Last Updated: 23 Sep 2009

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Liver disease in erythropoietic protoporphyria: insights and implications for management.
 

Author(s): A V Anstey, R J Hift

Journal: Postgrad Med J. 2007 Dec;83(986):739-48.

 

Last Updated: 6 Dec 2007

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact
 

Status: Recruiting

Condition Summary: Erythropoietic Protoporphyria; EPP; X-Linked Protoporphyria; XLP; XLPP; X-Linked Dominant Erythropoietic Protoporphyria; XLEPP; XLDP

 

Last Updated: 25 Aug 2014

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Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))
 

Status: Recruiting

Condition Summary: Erythropoietic Protoporphyria (EPP)

 

Last Updated: 27 Aug 2014

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Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic Protoporphyria
 

Status: Recruiting

Condition Summary: Erythropoietic Protoporphyria

 

Last Updated: 10 Oct 2006

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