CPOX-related hereditary coproporphyria

CPOX-related hereditary coproporphyria is a type of porphyria that occurs due to changes in the CPOX gene. This condition shows a range of symptoms depending on whether one or two gene variants are present. People with one variant often experience attacks that begin in adolescence or adulthood, marked by severe abdominal pain and neurological symptoms such as motor weakness and other nerve-related issues. Those with two copies of the variant may have symptoms that begin in infancy, including a type of anemia (hemolytic anemia), an enlarged liver and spleen, and severe jaundice. Other signs can include red-colored urine, fragile skin, and sensitivity to sunlight that may lead to scarring. The condition is inherited in a semidominant pattern, meaning that having one copy of the altered gene may cause one set of symptoms while having two copies can lead to a different, often more serious, set of symptoms.

People with the monoallelic form may have acute, episodic attacks involving severe abdominal pain, nerve pain, and other neurological symptoms. In those with the biallelic form, symptoms seen in infancy can include hemolytic anemia, an enlarged liver and spleen, and severe jaundice. Additional signs sometimes reported are red-colored teeth (erythrodontia), red urine, fragile skin, and photosensitivity which can lead to scarring.

This condition is caused by variants in the CPOX gene. It follows a semidominant inheritance pattern, meaning that even one variant can lead to health issues like neurovisceral attacks, while having two variants may result in an earlier, more severe presentation with symptoms like hemolytic anemia and hepatosplenomegaly.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.