Wednesday, April 25, 2018

#PAW 2018 Medical Moment ~ What is CEP


Congenital erythropoietic porphyria

Información en español

Other Names:
Porphyria, congenital erythropoietic; CEP; Günther disease; See More


Congenital erythropoietic porphyria (CEP) is the rarest type of porphyria and is commonly seen in infancy.[1]  It is characterized by severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of the hands.[2][3] Photosensitivity and infection may cause the loss of fingers and facial features.[1] Symptoms of CEP range from mild to severe and may include excessive hair growth throughout the body (hypertrichosis), reddish discoloration of the teeth, anemia, and reddish-colored urine.[4] In CEP, there is a defect in the synthesis of heme within the red blood cells of bone marrow.[3][4] This defect leads to an increase in the buildup and, therefore, waste of porphyrin and its precursors, which leads to the signs and symptoms.[3] Inheritance is autosomal recessive. It is caused by mutations in the UROS gene.[3] Treatment for CEP may include a bone marrow transplant and hematopoietic stem cell cord blood transplantation.[2][1] Blood transfusions or spleen removal may also reduce the amount of porphyrin produced by the bone marrow. Affected people must avoid sunlight exposure.[1]
Last updated: 3/22/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
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Medical TermsOther Names
Learn More:
80%-99% of people have these symptoms
Abnormal blistering of the skin
Blistering, generalized
more  ]
Abnormal urinary color
Abnormal urinary colour
more  ]
Abnormality of the foot
Abnormal feet morphology
more  ]
Abnormality of the hand
Abnormal hands
more  ]
Abnormality of the heme biosynthetic pathway0010472 
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Last updated: 4/1/2018

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • The American Porphyria Foundation offers a document that includes information about porphyria, types, testing, and treatment with Panhematin®.  Click the "document" link above to view these guidelines.

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