Erythropoietic Protoporphyria

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Erythropoietic Protoporphyria is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Erythrohepatic Protoporphyria
  • Protoporphyria
  • EPP

Disorder Subdivisions

  • None

General Discussion

Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder characterized by a deficiency of the enzyme ferrochelatase (FECH). Due to abnormally low levels of this enzyme, excessive amounts of protoporphyrin accumulate in the bone marrow, blood plasma, and red blood cells. The major symptom of this disorder is hypersensitivity of the skin to sunlight and some types of artificial light, such as fluorescent lights (photosensitivity). After exposure to light, the skin may become itchy and red. Affected individuals may also experience a burning sensation on their skin. The hands, arms, and face are the most commonly affected areas. Some people with erythropoietic protoporphyria may also have complications related to liver and gallbladder function. Erythropoietic protoporphyria is inherited as an autosomal dominant genetic trait with poor penetrance.

Erythropoietic protoporphyria is one of a group of disorders known as the porphyrias. The porphyrias are all characterized by abnormally high levels of particular chemicals (porphyrins) in the body due to deficiencies of certain enzymes essential to the synthesis of hemoglobin. There are at least seven types of porphyria. The symptoms associated with the various types of porphyria differ, depending upon the specific enzyme that is deficient. It is important to note that people who have one type of porphyria do not develop any of the other types.

Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info.svcs@climb.org.uk
Internet: http://www.CLIMB.org.uk

American Porphyria Foundation
4900 Woodway
Suite 780
Houston, TX 77056
Tel: (713)266-9617
Fax: (713)840-9552
Email: porphyrus@aol.com
Internet: http://www.porphyriafoundation.com

NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda, MD 20892-3570
Tel: (301)654-3810
Fax: (301)907-8906
Tel: (800)891-5389
Email: nddic@info.niddk.nih.gov
Internet: http://www.niddk.nih.gov

MedicAlert Foundation International
2323 Colorado Avenue
Turlock, CA 95382
USA
Tel: (209)669-2401
Fax: (209)669-2456
Tel: (888)633-4298
Email: Inquiries@medicalert.org
Internet: http://www.medicalert.org

Erythropoietic Protoporphyria Research and Education Fund
Brigham & Women's Hospital
75 Francis Street
Boston, MA 02115
Tel: (617)732-5500
Tel: (800)638-6294
TDD: (617)732-6458
Email: mmmathroth@rics.bwh.harvard.edu
Internet: http://www.brighamandwomens.org/eppref/

Canadian Association for Porphyria
P.O. Box 1206
Neepawa
Manitoba, Intl ROJ 1HO
Canada
Tel: (204)476-2800
Fax: (204)476-2801
Internet: http://www.cpf-inc.ca/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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