Wilson’s Disease

Dr. Srinivas Bojanapu is a Hepatologist and Liver Transplant Surgeon in Bangalore who specialises in the diagnosis and management of Wilson’s disease. Wilson’s disease is a rare, inherited disorder that causes copper to accumulate in the body, particularly in the liver, brain, and other vital organs. This buildup of copper can lead to serious complications, including liver failure, neurological damage, and psychiatric symptoms. Early diagnosis and treatment are essential to prevent long-term damage. With proper management, including medications, dietary changes, and in some cases, liver transplantation, patients can lead healthy and fulfilling lives. Dr. Bojanapu provides expert care tailored to each patient’s needs.

Understanding Wilson’s Disease

Wilson’s disease is a rare genetic disorder that affects the body’s ability to regulate copper levels. It is caused by mutations in the ATP7B gene, which is responsible for transporting copper out of the liver and into the bloodstream. Without this transport function, copper builds up in the liver, brain, and other organs, leading to damage over time. The disease is inherited in an autosomal recessive pattern, meaning a person must inherit two copies of the mutated gene—one from each parent—to develop the condition. People with a family history of Wilson’s disease are at the highest risk, though it can also occur in individuals with no known family history due to new gene mutations.

The disease typically begins in childhood or adolescence, though symptoms may appear later in life. Early signs include fatigue, loss of appetite, and abdominal pain, often due to liver damage. As the disease progresses, copper accumulation can lead to neurological symptoms such as tremors, difficulty speaking, and muscle stiffness. In the brain, copper toxicity can cause psychiatric issues, including depression and anxiety. Without treatment, Wilson’s disease can be life-threatening. However, with early diagnosis and management through medications that reduce copper levels, most people can live normal, healthy lives.

Signs and Symptoms

• Progressive neurological dysfunction
• Kayser-Fleischer corneal rings
• Abnormal liver function tests
• Psychiatric symptoms
• Copper accumulation in liver
• Renal Fanconi syndrome

Treatment at Dr. Bojanapu Clinic

At Dr. Srinivas Bojanapu’s clinic in Bangalore, Wilson’s disease is managed with a comprehensive approach tailored to each patient’s condition. The treatment primarily involves medications such as zinc, penicillamine, or trientine, which help reduce copper accumulation in the body. In advanced cases where complications like liver failure occur, surgical interventions such as liver transplantation may be considered. The clinic ensures that patients receive timely and accurate diagnosis through advanced diagnostic tools, enabling early intervention.

Regular follow-up is a crucial part of the treatment plan, with patients advised to attend periodic check-ups to monitor copper levels, liver function, and overall health. Dr. Bojanapu’s team provides continuous support and education to patients and their families, ensuring they understand the long-term management of the disease. This holistic approach helps in maintaining quality of life and preventing complications associated with Wilson’s disease.

Causes and Risk Factors

Wilson’s Disease is an inherited disorder caused by mutations in the ATP7B gene, leading to excessive copper accumulation in the body. It primarily affects the liver, brain, and other organs.

• Genetic mutation in the ATP7B gene (autosomal recessive inheritance)
• Family history of Wilson’s Disease
• Onset typically between ages 5 and 35
• Low serum ceruloplasmin levels
• High urinary copper excretion
• Poor dietary copper regulation

How is it Diagnosed

Diagnosis involves evaluating clinical symptoms, family history, and confirmatory tests to measure copper levels and genetic mutations.

• Measurement of serum ceruloplasmin levels
• 24-hour urinary copper excretion test
• Slit lamp examination for Kayser-Fleischer rings
• Liver biopsy to assess copper accumulation
• Genetic testing for ATP7B mutations

Treatment Options

Medical Treatment

Medications such as penicillamine, zinc, and trientine help reduce copper accumulation and prevent organ damage. Lifelong adherence is crucial for managing the disease.

Surgical Treatment

Liver transplantation is the definitive treatment for advanced liver failure or when medical therapy fails. It offers a cure by replacing the diseased liver with a healthy donor organ.

When is Liver Transplant Needed

Liver transplant is considered for patients with severe, irreversible liver damage or life-threatening complications that cannot be controlled with medication.

• End-stage liver disease with severe cirrhosis
• Refractory hepatic encephalopathy
• Acute liver failure with coagulopathy
• Progressive neurological deterioration unresponsive to treatment

Frequently Asked Questions