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.
E80.29 – Other porphyria
7425008 – Hereditary Coproporphyria
Last Updated: 03/29/2017