Wilson’s Disease
Wilson’s disease is a rare, inherited condition that causes the body to retain too much copper, which then builds up in the liver, brain, and other organs. Without treatment, this copper overload can lead to liver failure, neurological problems, or psychiatric symptoms.
At The Medical Group of New Jersey, our hepatologists use advanced testing to detect Wilson’s disease early and develop personalized treatment plans to remove excess copper and prevent long-term organ damage.
Symptom Onset & Initial Evaluation
Symptoms of Wilson’s disease vary depending on where copper has accumulated. Liver-related symptoms often appear first and may include:
- Fatigue or weakness
- Yellowing of the skin or eyes (jaundice)
- Abdominal pain or swelling
- Nausea or poor appetite
As the disease progresses, patients may also develop:
- Tremors, muscle stiffness, or difficulty speaking
- Mood changes, depression, or personality shifts
- Trouble walking or coordinating movements
During your evaluation, your hepatologist will review your symptoms, family history, and any neurological or psychiatric changes. Early diagnosis greatly improves outcomes and prevents irreversible damage.
Diagnosis
Diagnosing Wilson’s disease requires a combination of blood, urine, and imaging tests to measure copper buildup and assess liver function:
- Ceruloplasmin blood test: Measures the protein that carries copper in the blood, often low in Wilson’s disease.
- 24-hour urine copper test: Detects high levels of copper excreted in urine.
- Eye exam (slit-lamp): Looks for Kayser–Fleischer rings, copper deposits around the cornea.
- MRI or liver biopsy: Determines the amount of copper in the liver and checks for scarring.
- Genetic testing: Confirms inherited mutations causing the disease.
At The Medical Group of New Jersey, these diagnostic services are coordinated across hepatology, neurology, and ophthalmology to ensure a complete and accurate diagnosis.
Treatment
Treatment focuses on removing excess copper and preventing it from building up again.
Medication Therapy
- Chelating agents (e.g., penicillamine or trientine): Bind to copper so it can be safely removed through urine.
- Zinc therapy: Blocks the absorption of copper from food.
Lifestyle & Dietary Guidance
- Avoid foods high in copper (shellfish, nuts, chocolate, mushrooms, and liver).
- Maintain good hydration to support kidney function.
- Regular follow-ups to monitor copper levels and adjust medications.
In advanced cases with severe liver damage, liver transplantation may be necessary to restore normal copper metabolism.
Ongoing Management & Long-Term Care
Wilson’s disease is a lifelong condition, but with proper management, most patients lead normal, healthy lives. Long-term care includes:
- Regular blood and urine tests to monitor copper and liver function
- Continued use of prescribed medications or zinc therapy
- Annual neurologic and ophthalmologic evaluations
- Family screening to detect undiagnosed cases early
At The Medical Group of New Jersey, our hepatology specialists provide comprehensive, multidisciplinary care that supports both physical and emotional well-being, helping patients stay healthy for years to come.