A RARE INHERITED DISORDER OF COPPER HANDLING
Wilson Disease
A rare inherited disorder where copper builds up in the body, affecting the liver, brain and other organs. Lifelong copper chelation therapy and dietary management lead to good outcomes.
ABOUT THIS CONDITION
What is Wilson Disease
Wilson disease is a rare inherited disorder in which the body cannot remove excess copper, leading to copper accumulation in the liver, brain, eyes and other organs. It is caused by mutations in a specific gene that controls copper transport. Symptoms usually appear in childhood, adolescence or young adulthood and can include liver problems (jaundice, fatigue, fluid build-up, cirrhosis), neurological symptoms (tremor, difficulty speaking, walking and writing), behavioural changes and characteristic eye findings (Kayser-Fleischer rings). Diagnosis is based on clinical features, blood and urine copper studies, slit-lamp eye examination and genetic testing. Lifelong treatment with copper chelation therapy, zinc therapy and a low-copper diet usually leads to excellent long-term outcomes, especially when started early. Liver transplant may be considered in advanced liver disease. Dr. Patnam Pravallika Reddy provides initial evaluation, adult care and coordination with specialists at Lux Hospitals, Hyderabad.
SIGNS TO WATCH
Common Symptoms
Symptoms that need attention
WHY IT HAPPENS
Causes & Risk Factors
- Inherited mutations in the gene controlling copper transport
- Autosomal recessive inheritance — both parents are carriers
- Family history of Wilson disease
- Symptoms usually appear in childhood to early adulthood
CLINICAL DETAILS
KeyFacts
Blood and urine copper studies, slit-lamp eye examination, liver tests, genetic testing
Lifelong copper chelation, zinc therapy and low-copper diet
Siblings and close family members should be evaluated
Excellent in patients diagnosed and treated early
Considered in advanced or treatment-resistant disease
Available at Lux Hospitals, Hyderabad — initial evaluation and adult care
HOW WE TREAT IT
Treatment Approach
Lifelong Copper Chelation with Dietary Care
The most effective approach is lifelong copper chelation therapy combined with zinc therapy, a low-copper diet and regular liver and neurological monitoring. Early initiation gives the best long-term outcomes and prevents progression of liver and brain damage.
- 1
Consultation & Assessment
Dr. Pravallika reviews symptoms and family history, examines the patient and orders copper studies, liver tests, slit-lamp examination and genetic testing as indicated.
- 2
Treatment Planning
A personalised long-term plan is created including copper chelation, zinc therapy and dietary advice, with specialist input where needed.
- 3
Medical Management
Lifelong copper chelation and zinc therapy, low-copper diet, regular monitoring of liver function and neurological status.
- 4
Recovery & Follow-up
Long-term review of disease control, side effects and family screening, with liver transplant referral in advanced cases.
AVAILABLE TREATMENTS
Treatment Options
Copper Chelation Therapy
Specific medication binds excess copper in the body and helps remove it, forming the cornerstone of treatment.
Zinc Therapy
Zinc reduces copper absorption from food and is used as a maintenance therapy in many patients.
Low-Copper Diet
Avoiding high-copper foods such as liver, shellfish, mushrooms, nuts and chocolate supports overall treatment.
Liver Function Monitoring
Regular blood tests and clinical review track liver involvement and overall response to treatment.
Liver Transplant in Advanced Cases (Referral for surgical evaluation)
Liver transplant may be considered in patients with very advanced liver disease or failure of medical therapy.
COMMON QUESTIONS
Frequently Asked Questions
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