Wilson’s Disease

Diagnosis

Diagnosing Wilson’s disease can be challenging because its symptoms often resemble those of other liver and neurological disorders. Early detection is crucial to prevent long-term organ damage. A healthcare professional typically reviews medical history, performs a physical exam, and orders specific tests to confirm the diagnosis.

Common diagnostic methods include:

• Blood tests: These measure copper levels, liver function, and ceruloplasmin, a protein that carries copper in the blood. Low ceruloplasmin and high liver enzyme levels may indicate Wilson’s disease.

• Urine tests: A 24-hour urine collection measures how much copper is being excreted. Elevated levels suggest copper buildup.

• Eye exam: An ophthalmologist looks for Kayser-Fleischer rings—brownish or golden deposits of copper around the cornea, visible with a slit-lamp examination.

• Liver biopsy: A small sample of liver tissue may be tested for copper content to confirm the diagnosis.

• Genetic testing: Detects mutations in the ATP7B gene responsible for copper transport. This test can confirm the diagnosis and help identify carriers within families.

Early and accurate diagnosis helps initiate treatment before severe neurological or liver damage occurs.

Treatment

Treatment for Wilson’s disease focuses on reducing copper accumulation in the body and preventing further buildup. With lifelong treatment, most people can manage symptoms effectively and lead healthy lives.

Key treatment options include:

• Chelating agents: Medicines such as penicillamine and trientine bind to excess copper, allowing it to be excreted through urine. These are the main treatments used to lower copper levels in the body.

• Zinc therapy: Zinc acetate or zinc sulfate helps block copper absorption from food and promotes its elimination through the digestive tract. This therapy is often used for maintenance once copper levels are reduced.

• Dietary changes: Limiting foods high in copper, such as shellfish, nuts, chocolate, mushrooms, and organ meats, helps control copper intake.

• Liver transplant: In cases of severe liver failure or advanced disease not responding to medication, a liver transplant may be necessary.

Lifelong follow-up with a specialist is essential. Regular monitoring of copper levels and liver function helps adjust treatment and prevent complications. Early and consistent management of Wilson’s disease can greatly improve outcomes and quality of life.