Symptoms, Causes, and Treatment of Wilson's Disease
Learn about Wilson's Disease, a rare genetic disorder. Discover its symptoms, causes, and effective treatment options to manage the condition and improve your quality of life.
Written by Dr. Vasanthasree Nair
Reviewed by Dr. Shaik Abdul Kalam MD (Physician)
Last updated on 22nd Aug, 2025
Wilson’s Disease is a rare genetic disorder that affects the body’s ability to process copper, leading to its dangerous buildup in vital organs like the liver, brain, and eyes. While it is a lifelong condition, early diagnosis and proper treatment can help manage symptoms and prevent complications.
This article will guide you through the symptoms, causes, and treatment options for Wilson’s Disease in simple, easy to understand terms.
What is Wilson’s Disease?
Wilson’s Disease is an inherited condition where the body cannot properly remove excess copper. Normally, the liver filters out extra copper, which is then excreted. However, in people with Wilson’s Disease, copper accumulates in tissues, causing damage over time.
If left untreated, it can lead to serious health problems, including liver disease, neurological issues, and even psychiatric symptoms. The good news is that with early detection and proper care, most people with Wilson’s Disease can lead healthy lives.
Symptoms of Wilson’s Disease
Symptoms vary depending on where copper builds up in the body. They usually appear between ages 5 and 35 but can develop earlier or later.
1. Liver-Related Symptoms (Most Common in Children & Young Adults)
Fatigue and weakness
Jaundice (yellowing of skin and eyes)
Swelling in the abdomen (due to fluid buildup)
Easy bruising or bleeding
Loss of appetite and nausea
2. Neurological Symptoms (More Common in Teens & Adults)
Tremors or uncontrolled movements
Muscle stiffness or cramps
Difficulty speaking or swallowing
Poor coordination and balance issues
3. Psychiatric Symptoms
Mood swings, depression, or anxiety
Personality changes
Difficulty concentrating
4. Other Symptoms
Kayser Fleischer rings – A golden-brown eye discoloration (seen in a special eye exam)
Kidney stones or bone problems
If you or a loved one experience these symptoms, consult a doctor for further evaluation.
What Causes Wilson’s Disease?
Wilson’s Disease is caused by a genetic mutation in the ATP7B gene, which is responsible for removing excess copper from the body. This condition is inherited in an autosomal recessive pattern, meaning both parents must pass on a defective gene for the child to develop the disease.
If only one parent passes the gene, the child becomes a carrier but does not develop symptoms.
If both parents pass the gene, the child has a 25% chance of having Wilson’s Disease.
Since it is genetic, family members of affected individuals should also get tested.
How is Wilson’s Disease Diagnosed?
Diagnosing Wilson’s Disease involves a combination of tests:
1. Blood & Urine Tests – To check copper levels and liver function.
2. Eye Exam – To detect KayserFleischer rings (a key sign).
3. Liver Biopsy – A small liver tissue sample is examined for copper buildup.
4. Genetic Testing – Identifies mutations in the ATP7B gene.
Early diagnosis is crucial to prevent organ damage. If you suspect Wilson’s Disease, consult a specialist.
Treatment for Wilson’s Disease
There is no cure for Wilson’s Disease, but treatments effectively manage copper levels and prevent complications.
1. Medications
Chelating Agents (e.g., Penicillamine, Trientine) – Help remove excess copper from the body.
Zinc Supplements – Block copper absorption in the intestines.
2. Dietary Changes
Avoid copperrich foods like shellfish, nuts, chocolate, mushrooms, and organ meats.
Drink filtered water if copper pipes are used at home.
Limit vitamin/mineral supplements containing copper.
3. Regular Monitoring
Frequent blood tests to check copper levels and liver function.
Neurological and eye exams to track disease progression.
4. Liver Transplant (In Severe Cases)
If liver damage is advanced, a transplant may be necessary.
Consult a Top General Physician
Living with Wilson’s Disease: Tips for Management
Living with Wilson's disease tips which can be followed:
Stick to your treatment plan – Never skip medications.
Follow a lowcopper diet – Work with a nutritionist if needed.
Stay hydrated – Helps flush out toxins.
Exercise regularly – Improves muscle strength and coordination.
Monitor mental health – Seek therapy or support groups if needed.
When to See a Doctor?
If you or a family member experience unexplained liver problems, neurological symptoms, or psychiatric changes, consult a doctor immediately. Early treatment can prevent serious complications.
Need expert advice?
You can book a consultation with a specialist through Apollo 24|7 for personalized care and treatment options.
Final Thoughts
Wilson’s Disease is a manageable condition with the right care. If diagnosed early and treated properly, individuals can lead healthy, fulfilling lives. If you suspect symptoms, don’t delay—seek medical advice and get tested.
Stay informed, stay healthy!
Consult a Top General Physician
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