Hereditary coproporphyria

Hereditary coproporphyria (HCP) is a disorder that affects the production of heme, a vital substance for the body. Heme is a component of hemoglobin, the molecule that carries oxygen in the blood.

Causes

HCP is caused by mutations in the CPOX gene. This gene provides instructions for making an enzyme called coproporphyrinogen oxidase, which is essential for the production of heme. Mutations in the CPOX gene reduce the activity of this enzyme, disrupting heme production and leading to the accumulation of porphyrins or porphyrin precursors.

Symptoms

The symptoms of HCP can vary widely among affected individuals. Some people with HCP never experience symptoms. When symptoms occur, they can include abdominal pain, vomiting, and constipation. Other symptoms can include muscle pain, tingling or numbness in the hands or feet, and sensitivity to sunlight.

Diagnosis

HCP is diagnosed through a series of tests that measure the levels of porphyrins and porphyrin precursors in the body. These tests can include urine tests, blood tests, and stool tests. Genetic testing can also be used to identify mutations in the CPOX gene.

Treatment

There is currently no cure for HCP. Treatment is focused on managing symptoms and preventing complications. This can include avoiding triggers that can cause symptoms, such as certain medications, alcohol, and fasting. In some cases, medications may be used to reduce the levels of porphyrins and porphyrin precursors in the body.

See also

• Porphyria
• Heme
• Hemoglobin
• CPOX

References

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