Porphyria, hereditary coproporphyria

A type of porphyria affecting heme biosynthesis

Hereditary Coproporphyria
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Abdominal pain, neurological disturbances, photosensitivity
Complications	N/A
Onset	Adolescence or adulthood
Duration	Chronic
Types	N/A
Causes	Genetic mutation in the CPOX gene
Risks	N/A
Diagnosis	Urine, blood, and stool tests
Differential diagnosis	N/A
Prevention	N/A
Treatment	Avoidance of triggers, glucose, hemin
Medication	N/A
Prognosis	N/A
Frequency	N/A
Deaths	N/A

Hereditary Coproporphyria (HCP) is a type of porphyria, which is a group of rare metabolic disorders resulting from a deficiency in one of the enzymes involved in the heme biosynthesis pathway. HCP is characterized by a partial deficiency of the enzyme coproporphyrinogen oxidase, leading to the accumulation of porphyrins and their precursors, which can cause a variety of symptoms.

Pathophysiology

HCP is caused by mutations in the CPOX gene, which encodes the enzyme coproporphyrinogen oxidase. This enzyme is responsible for the conversion of coproporphyrinogen III to protoporphyrinogen IX in the heme biosynthesis pathway. A deficiency in this enzyme leads to the accumulation of coproporphyrinogen III and other porphyrin precursors, which can cause toxic effects, particularly in the nervous system and skin.

Clinical Presentation

The clinical manifestations of hereditary coproporphyria can vary widely among individuals. Common symptoms include:

• Severe abdominal pain
• Neurological disturbances such as seizures, peripheral neuropathy, and mental changes
• Photosensitivity leading to skin lesions

Symptoms often appear during adolescence or adulthood and can be triggered by factors such as certain drugs, alcohol, fasting, or hormonal changes.

Diagnosis

Diagnosis of HCP involves a combination of clinical evaluation and laboratory tests. Key diagnostic tests include:

• Measurement of porphyrins and their precursors in urine, blood, and stool
• Genetic testing to identify mutations in the CPOX gene

Management

Management of hereditary coproporphyria focuses on avoiding triggers and symptomatic treatment. Key management strategies include:

• Avoidance of known triggers such as certain medications, alcohol, and fasting
• Administration of glucose or hemin to reduce porphyrin production
• Supportive care for symptoms such as pain management and treatment of neurological symptoms

Prognosis

The prognosis for individuals with hereditary coproporphyria varies. With proper management and avoidance of triggers, many individuals can lead relatively normal lives. However, severe attacks can be life-threatening and require prompt medical attention.

Also see

• Porphyria
• Acute intermittent porphyria
• Variegate porphyria
• Heme biosynthesis