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Genetic and Rare Diseases Information Center (GARD)

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Hereditary coproporphyria


Other Names for this Disease

  • Coproporphyria
  • Coproporphyria hereditary
  • Coproporphyrinogen oxidase deficiency
  • CPO deficiency
  • CPRO deficiency

Related Diseases

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Symptoms

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What symptoms may be associated with hereditary coproporphyria?

Most patients with defects in coproporphyrinogen oxidase never have any symptoms.[1] When symptoms do present, hereditary coproporphyria shows itself in 2 ways, as "acute attacks" and as skin problems.[2] 

Acute attacks are characterized by abdominal pain, nausea, vomiting and loss of appetite. These symptoms are often accompanied by constipation and a fast pulse rate. The urine of individuals experiencing an attack may be dark or it may darken on standing, particularly in sunlight. In rare cases, changes in the level of consciousness and various abnormalities of mental function may occur along with muscle weakness which may become life-threatening.[2] Between acute attacks, individuals are often symptom free.[1]
 
The skin manifestations are similar to those in porphyria cutanea tarda. Blisters form in sun-exposed areas and can evolve into chronic scarred areas of fragile skin. Patients also may develop excessive hair growth in sun-exposed areas.[1]
Last updated: 11/11/2010

The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary coproporphyria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abdominal pain 90%
Abnormal blistering of the skin 90%
Cutaneous photosensitivity 90%
Generalized hyperpigmentation 90%
Myalgia 90%
Nausea and vomiting 90%
Reduced consciousness/confusion 90%
Thin skin 90%
Constipation 50%
Arthralgia 7.5%
Diaphragmatic paralysis 7.5%
Hallucinations 7.5%
Hyponatremia 7.5%
Abnormality of metabolism/homeostasis -
Acute episodes of neuropathic symptoms -
Anxiety -
Autosomal dominant inheritance -
Confusion -
Congenital hemolytic anemia -
Depression -
Diarrhea -
Hepatomegaly -
Hypertension -
Incomplete penetrance -
Insomnia -
Jaundice -
Paranoia -
Peripheral neuropathy -
Respiratory paralysis -
Splenomegaly -
Tachycardia -
Vomiting -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. DeLoughery TG. Porphyria, Hereditary Coproporphyria. eMedicine. 2009; http://emedicine.medscape.com/article/205374-overview. Accessed 11/11/2010.
  2. Hereditary Coproporphyria. Canadian Porphyria Foundation. http://www.cpf-inc.ca/HCP.htm. Accessed 11/11/2010.


Other Names for this Disease
  • Coproporphyria
  • Coproporphyria hereditary
  • Coproporphyrinogen oxidase deficiency
  • CPO deficiency
  • CPRO deficiency
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.