Hereditary coproporphyria

Disease Overview

Hereditary coproporphyria (HCP) is a rare inherited form of liver (hepatic) porphyria, characterized by neurological symptoms in the form of episodes (acute attacks) of stomach pain, nausea, vomiting, weakness, numbness, and pain in the hands and feet (neuropathy).[1265][12347] The porphyrias are a group of blood conditions caused by a lack of an enzyme in the body that makes heme, an important molecule that carries oxygen throughout the body and is vital for all of the body’s organs.[1265] Symptoms usually begin around 20-30 years of age, but have been reported at younger ages. Signs and symptoms present during the attacks may include body pain, nausea and vomiting, increased heart rate (tachycardia), and high blood pressure.[12347]  Less common symptoms include seizures, skin lesions, and paralysis of the arms and legs, body trunk, and respiratory muscles. Most individuals with HCP do not have any signs or symptoms between attacks.[15353] HCP is caused by mutations in the CPOX gene and is inherited in an autosomal dominant manner.[1268] Diagnosis is based on the symptoms and specific blood, urine and stool testing. Treatment is based on preventing the symptoms. An acute attack requires hospitalization, medications, and treatment with heme therapy.[15354]  

Synonyms

• Coproporphyria
• Coproporphyria hereditary
• Hereditary coproporphyria porphyria
• Porphyria hepatica coproporphyria
• Porphyria hepatica II
• HCP
• Coproporphyrinogen oxidase deficiency
• CPO deficiency
• CPRO deficiency
• CPX deficiency