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Erythropoietic Protoporphyria
Important
It is possible that the main title of the report Erythropoietic Protoporphyriais not the name you expected.
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
info@climb.org.uk
http://www.CLIMB.org.uk
American Porphyria Foundation
4900 Woodway
Suite 780
Houston
TX
77056
Tel: (713)266-9617
Fax: (713)840-9552
porphyrus@aol.com
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
800: (800)891-5389
nddic@info.niddk.nih.gov
http://www.niddk.nih.gov
Medic Alert Foundation International
2323 Colorado Avenue
Turlock
CA
95382
USA
Tel: (209)669-2401
Fax: (209)669-2456
800: (800)432-5378
Inquiries@medicalert.org
http://www.medicalert.org
Erythropoietic Protoporphyria Research and Education Fund
Channing Lab., Harvard Med. School
Brigham & Women's Hospital
181 Longwood Ave.
Boston
MA
02115-5804
Tel: (617)525-8249
Fax: (617)731-1541
mmmathroth@rics.bwh.harvard.edu
mmmathroth@rics.bwh.harvard.edu
Canadian Association for Porphyria
P.O. Box 1206
Neepawa
Manitoba
Intl
ROJ 1HO
Canada
Tel: (204)476-2800
Fax: (204)476-2801
http://www.cpf-inc.ca/
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
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 8/13/2004
Copyright 1987, 1988, 1990, 1994, 1996, 1997, 2000, 2004, National Organization for Rare Disorders, Inc.
WebMD Medical Reference from the National Organization of Rare Disorders
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