Congenital hepatic porphyria

Congenital Hepatic Porphyria (CHP), also known as Hereditary Coproporphyria, is a rare metabolic disorder characterized by a deficiency in the enzyme coproporphyrinogen oxidase. This enzyme is crucial in the heme synthesis pathway, which is responsible for producing heme, a component of hemoglobin necessary for oxygen transport in the blood. The deficiency leads to the accumulation of porphyrins in the liver, causing a variety of symptoms. CHP is one of the types of porphyria, which are a group of disorders that result from a buildup of natural chemicals that produce porphyrin in the body.

Symptoms and Signs

The symptoms of Congenital Hepatic Porphyria can vary widely among individuals, ranging from mild to severe. They may include:

• Photosensitivity (skin sensitivity to sunlight)
• Abdominal pain
• Neuropathy (nerve damage)
• Psychiatric symptoms such as anxiety, confusion, or hallucinations
• Liver damage or liver failure
• Dark or reddish-brown urine

Causes

CHP is caused by mutations in the CPOX gene, which provides instructions for making the enzyme coproporphyrinogen oxidase. These mutations lead to reduced activity of this enzyme, disrupting the heme synthesis pathway and causing porphyrins to accumulate in the liver.

Diagnosis

Diagnosis of Congenital Hepatic Porphyria involves a combination of clinical evaluation, detailed patient history, and specialized tests. These tests may include:

• Urine test for porphyrins
• Blood tests to measure porphyrin levels and enzyme activity
• Genetic testing to identify mutations in the CPOX gene

Treatment

There is no cure for CHP, but treatment focuses on managing symptoms and preventing acute attacks. Treatment options may include:

• Avoidance of sunlight and protective clothing to prevent skin damage
• Medications to manage pain, nausea, and vomiting
• Hematin therapy to reduce porphyrin production
• Liver transplant in severe cases

Prognosis

The prognosis for individuals with Congenital Hepatic Porphyria varies. With proper management, many individuals can lead normal lives. However, those with severe symptoms may experience complications such as liver damage, which can be life-threatening.

Epidemiology

Congenital Hepatic Porphyria is a rare condition, though the exact prevalence is unknown. It affects both males and females and can present at any age, though symptoms often first appear in adulthood.

Congenital hepatic porphyria Resources
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