Porphyria, Hereditary Coproporphyria

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It is possible that the main title of the report Porphyria, Hereditary Coproporphyria 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

HCP
Porphyria Hepatica, Coproporphyria

Disorder Subdivisions

None

General Discussion

Hereditary Coproporphyria is an autosomal dominant form of hepatic porphyria that is very similar to Acute Intermittent Porphyria, although it is usually a less severe disease. It is caused by an enzyme deficiency. Some patients develop skin photosensitivity, and must avoid sunlight. The diagnosis is established by finding excess coproporphyrin in urine and stool (other types of porphyrins show little or no increase). Urinary ALA and PBG are increased during acute attacks, but may become normal on recovery.

The Porphyrias are a group of at least seven disorders. The common feature in all porphyrias is the excess accumulation in the body of "porphyrins" or "porphyrin precursors." These are natural chemicals that normally do not accumulate in the body. Precisely which one of these porphyrin chemicals builds up depends upon the type of porphyria that a patient has.

Porphyrias can also be classified into two groups: the "hepatic" and "erythropoietic" types. Porphyrins and related substances originate in excess amounts from the liver in the hepatic types, and mostly from the bone marrow in the erythropoietic types.

The porphyrias with skin manifestations are sometimes called "cutaneous porphyrias." The "acute porphyrias" are characterized by sudden attacks of pain and other neurological manifestations. These acute symptoms can be both rapidly-appearing and severe. An individual may be considered in a "latent" condition if he or she has the characteristic enzyme deficiency, but has never developed symptoms. There can be a wide spectrum of severity between the "latent" and "active" cases of any particular type of this disorder. The symptoms and treatments of the different types of porphyrias are not the same.
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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@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

Medic Alert Foundation International
2323 Colorado Avenue
Turlock, CA 95382
USA
Tel: 2096692401
Fax: 2096692456
Tel: 8004325378
Email: Inquiries@medicalert.org
Internet: http://www.medicalert.org

Canadian Porphyria Foundation, Inc.
P.O. Box 1206
Neepawa
Manitoba, Intl ROJ 1HO
Canada
Tel: (204)476-2800
Fax: (204)476-2801
Tel: 866-476-2801
Email: porphyria@cpf-inc.ca
Internet: 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: 2/7/2007
Copyright 1987, 1988, 1990, 1991, 1993, 1996, 1997, 2001, 2007 National Organization for Rare Disorders, Inc.

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