Erythropoietic Protoporphyria
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Learn About Erythropoietic Protoporphyria

What is the definition of Erythropoietic Protoporphyria?
Erythropoietic protoporphyria (EPP) 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 pathogenic variants in the FECH gene which lead to an impaired activity of ferrocheletase (FECH), 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. Inheritance is autosomal recessive.
What are the alternative names for Erythropoietic Protoporphyria?
  • Autosomal erythropoietic protoporphyria
  • EPP
  • Erythrohepatic protoporphyria
  • Ferrochelatase deficiency
  • Heme synthetase deficiency
Who are the top Erythropoietic Protoporphyria Local Doctors?
Elite in Erythropoietic Protoporphyria
Elite in Erythropoietic Protoporphyria
Referral may be required
Milan, IT 

Francesca Granata practices practicing medicine in Milan, Italy. Ms. Granata is rated as an Elite expert by MediFind in the treatment of Erythropoietic Protoporphyria. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Erythropoietic Protoporphyria, Protoporphyria, Porphyria, and Acute Intermittent Porphyria.

Elite in Erythropoietic Protoporphyria
Elite in Erythropoietic Protoporphyria
Referral may be required
Melbourne, VIC, AU 

Gayle Ross practices practicing medicine in Melbourne, Australia. Ms. Ross is rated as an Elite expert by MediFind in the treatment of Erythropoietic Protoporphyria. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Erythropoietic Protoporphyria, Protoporphyria, Porphyria, and Porphyria Cutanea Tarda.

 
 
 
 
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Elite in Erythropoietic Protoporphyria
Elite in Erythropoietic Protoporphyria
Referral may be required
Floor 2, No. 17-1, Lane 113, Xiamen Street, 
TPQ, TW 

Bruce Wang practices practicing medicine in Taiwan. Mr. Wang is rated as an Elite expert by MediFind in the treatment of Erythropoietic Protoporphyria. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Porphyria, Acute Hepatic Porphyria (AHP), Acute Intermittent Porphyria, Erythropoietic Protoporphyria, and Liver Transplant.

What are the latest Erythropoietic Protoporphyria Clinical Trials?
Longitudinal Study of the Porphyrias

Summary: The objective of this protocol is to conduct a longitudinal multidisciplinary investigation of the human porphyrias including the natural history, morbidity, pregnancy outcomes, and mortality in people with these disorders.

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Prospective Clinical Assessment Study in Adolescents and Adults With Erythropoietic Protoporphyria (EPP) and X-Linked Porphyria (XLP) (STEPP)

Summary: The purpose of this study is to collect information about the effects of EPP/XLP in adults and adolescents. This is an observational study in which participants will not receive any treatment. Study details include: * The study duration will be up to 6 months for each participant. * After Screening, participants will have a Baseline (Day 1) visit and return for visits every 4 weeks through 24 week...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

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