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Porphyria, Hereditary Coproporphyria

National Organization for Rare Disorders, Inc.

Important

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.

Resources

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building

176 Nantwich Road

Crewe, CW2 6BG

United Kingdom

Tel: 4408452412173

Fax: 4408452412174

Email: enquiries@climb.org.uk

Internet: http://www.CLIMB.org.uk



American Porphyria Foundation

4900 Woodway, Suite 780

Houston, TX 77056-1837

Tel: (713)266-9617

Fax: (713)840-9552

Tel: (866)273-3635

Email: porphyrus@aol.com

Internet: http://www.porphyriafoundation.com



NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison

Bldg 31, Rm 9A06

31 Center Drive, MSC 2560

Bethesda, MD 20892-2560

Tel: (301)496-3583

Email: NDDIC@info.niddk.nih.gov

Internet: http://www2.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



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

Internet: http://rarediseases.info.nih.gov/GARD/



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

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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