Diseases & Conditions
Porphyria, Hereditary Coproporphyria
Synonyms of Porphyria, Hereditary Coproporphyria
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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Organizations related to Porphyria, Hereditary Coproporphyria
For a Complete Report
- HCP
- Porphyria Hepatica, Coproporphyria
Disorder Subdivisions
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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Organizations related to Porphyria, Hereditary Coproporphyria
- American Porphyria Foundation
4900 Woodway
Houston TX 77056
Phone #: 713-266-9617
800 #: --
e-mail: [email protected]
Home page: http://www.porphyriafoundation.com - CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
Crewe Intl CW2 6BG
Phone #: +44- 87-0 7700 325
800 #: --
e-mail: [email protected]
Home page: http://www.CLIMB.org.uk - Canadian Association for Porphyria
P.O. Box 1206
Manitoba Intl ROJ 1HO
Phone #: (20-4)4-76-2800
800 #: N/A
e-mail: N/A
Home page: http://www.cpf-inc.ca/ - Medic Alert Foundation International
2323 Colorado Avenue
Turlock CA 95382
Phone #: 209-669-2401
800 #: 800-432-5378
e-mail: [email protected]
Home page: http://www.medicalert.org - NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda MD 20892-3570
Phone #: 301-654-3810
800 #: 800-891-5389
e-mail: [email protected]
Home page: http://www.niddk.nih.gov
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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