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Hereditary coproporphyria
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Hereditary coproporphyria

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Contributors: Carla Casulo MD
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Synopsis

Hereditary coproporphyria is a rare autosomal dominant inherited form of acute hepatic porphyria (see also acute intermittent porphyria and variegate porphyria), due to deficiency of coproporphyrinogen oxidase. The condition is characterized by neurovisceral attacks that last for 2 or more weeks. Photosensitivity cutaneous symptoms are present in 20%-30% of cases. Onset is mostly in female adolescents and young adults.

This disorder manifests as increasing abdominal pain with psychological and neurological symptoms including nausea, vomiting, constipation, depression, anxiety, irritability, myalgia, paresis, peripheral neuropathy, flaccid paralysis, and convulsions. Attacks commonly present with tachycardia and hyponatremia. Cutaneous symptoms of bullae and scars may appear on sun-exposed skin.

Risks include changes in female reproductive hormones, low caloric intake, and sudden drop in weight.

Respiratory paralysis and cardiac arrhythmia signal a medical emergency.

Management requires immediate cessation of the triggering agent (medication, oral contraceptives) and treatment of acute attacks with hematin infusion and carbohydrate. Dehydration, hyponatremia, and new-onset seizures need to be addressed. Patients unresponsive to therapies may be considered for liver transplantation.

For more information, see OMIM.

Codes

ICD10CM:
E80.29 – Other porphyria

SNOMEDCT:
7425008 – Hereditary Coproporphyria

Differential Diagnosis & Pitfalls

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Therapy

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Last Reviewed: 03/09/2017
Last Updated: 03/29/2017
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Hereditary coproporphyria
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Hereditary coproporphyria : Abdominal pain, Nausea, Vomiting, Constipation, Hypertrichosis, Neuropathy peripheral, Photosensitivity, Na decreased
Clinical image of Hereditary coproporphyria
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