Hereditary coproporphyria

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Hereditary coproporphyria
Synonyms	HCP
Pronounce
Specialty	Hematology, Genetics
Symptoms	Abdominal pain, neuropathy, psychiatric symptoms
Complications	N/A
Onset	Typically in adulthood
Duration	Episodic
Types	N/A
Causes	Genetic mutation in the CPOX gene
Risks	Hormonal changes, alcohol, certain medications
Diagnosis	Urine test, genetic testing
Differential diagnosis	Acute intermittent porphyria, variegate porphyria
Prevention	N/A
Treatment	Glucose and heme infusions, avoidance of triggers
Medication	N/A
Prognosis	Variable, can be managed with treatment
Frequency	Rare
Deaths	Rare, if untreated

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 deficiency of the enzyme coproporphyrinogen oxidase, leading to the accumulation of porphyrins and their precursors, which can cause a variety of symptoms.

Pathophysiology

Hereditary coproporphyria 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 neurovisceral attacks and cutaneous symptoms.

Clinical Presentation

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

• Abdominal pain
• Neurological disturbances such as seizures, neuropathy, and psychiatric symptoms
• Photosensitivity leading to skin lesions

The symptoms are often triggered by factors such as certain medications, alcohol, fasting, and hormonal changes.

Diagnosis

Diagnosis of hereditary coproporphyria is based on clinical symptoms, biochemical tests, and genetic testing. Biochemical tests typically show elevated levels of coproporphyrin in the urine and feces. Genetic testing can confirm mutations in the CPOX gene.

Management

Management of hereditary coproporphyria involves avoiding triggers, managing symptoms, and in some cases, administering heme preparations to reduce the production of porphyrin precursors. Patients are advised to avoid drugs and other factors that can precipitate attacks.

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.

See also

• Porphyria
• Heme
• CPOX gene
• Photosensitivity