diagnosis
Since wilson’s disease is rare, it often takes a long time to be diagnosed accurately and can often be confused with other forms of liver disease. Wilson disease can be diagnosed through blood tests, urine tests, liver biopsy, and genetic testing to confirm the diagnosis. A timely diagnosis can prevent severe damage to the liver and brain. It is also encouraged and useful for family members to receive genetic testing to determine their risk and for early intervention.
management
While Wilson disease is a serious condition, with proper management, many patients can lead normal lives. Dietary management includes avoiding foods high in copper such as shellfish, nuts, chocolate, mushrooms and liver. We recommend consulting a dietitian to create a copper-restricted meal plan. Long term management includes regular use of medication, routine medical check-ups, and regular blood test to monitor copper levels and liver function. Consider genetic counseling if you’re planning to have children, as the disease is inherited.
treatment
Wilson disease is a treatable disease with varying treatment options including medication. However, treatment for Wilson disease is a lifelong process. These treatments include:
- Chelating Agents: Medications like D-penicillamine and trientine help remove excess copper from the body. Doctors may start with higher doses of chelating agents, then reduce to maintenance doses once copper levels are controlled.
- Zinc Therapy: Zinc blocks the absorption of copper from the diet.
- In severe cases of liver damage, a liver transplant might be considered.
