Wilson’s Disease Treatment in Delhi, India

Copper, as we know, is a vital trace element, essential for the development of healthy nerves, bones, collagen, and skin pigment melanin. In the normal course, the liver regulates copper levels by producing bile, a substance that eliminates excess copper from the body.

However, in individuals with Wilson's disease, a rare inherited condition, the normal regulatory mechanism of the liver is disrupted. The liver's ability to efficiently produce bile falters, leading to the accumulation of copper in crucial organs such as the liver, brain, and eyes. 

This abnormal buildup, characteristic of Wilson's disease, disturbs the delicate balance required for overall health, which, in turn, can lead to severe consequences, making early diagnosis and intervention crucial for effective management and the ability of individuals with Wilson's disease to lead normal lives.

Wilson's disease is caused by a genetic mutation in the ATP7B gene. This gene is responsible for producing a protein that helps the body remove excess copper from the liver. When the gene is mutated, the protein does not function properly, and copper builds up in the liver and other organs.

Key risk factors for Wilson's disease include:

The main risk factor for Wilson's disease is having two copies of the mutated ATP7B gene, one from each parent. This is called autosomal recessive inheritance. If someone has only one copy of the mutated gene, they are a carrier of the disease, but they will not develop symptoms.

Other risk factors for Wilson's disease include:

• Having a family history of the disease
• Being of Eastern European or Asian descent

It's important to note that not everyone with a mutated ATP7B gene develops Wilson's disease, and some individuals may carry the gene without exhibiting symptoms. Genetic testing and medical evaluation are essential for a definitive diagnosis and to assess the risk factors in individuals suspected of having Wilson's disease. Early detection and treatment are crucial for managing the condition effectively.

Wilson's disease can present with a wide range of symptoms depending on which organs are affected by copper buildup. Here's a breakdown of the main categories:

Liver Symptoms

• Early stage: Fatigue, nausea, vomiting, loss of appetite, abdominal pain, dark urine, light stool.
• Later stage: Jaundice (yellowing of skin and eyes), ascites (fluid buildup in abdomen), edema (swelling in legs), easy bruising, spider angiomas (small, red, branching blood vessels on skin).

Neurological Symptoms

• Tremors, muscle stiffness, clumsiness, difficulty walking, slurred speech, drooling, poor coordination.
• Cognitive issues: Memory problems, difficulty concentrating, learning difficulties.
• Speech problems: Stuttering, difficulty finding words, aphasia (loss of ability to speak or understand language).
• Psychiatric symptoms: Depression, anxiety, personality changes, psychosis.

Eye Symptoms

• Kayser-Fleischer rings: Greenish-brown deposits around the coloured part of the eye (cornea).
• Photophobia (sensitivity to light).

Other Symptoms

• Osteoporosis (weak bones)
• Arthritis (joint pain and swelling)
• Anaemia (low red blood cell count)
• Kidney problems

Note - Not everyone with Wilson's disease will experience all of these symptoms. Also, symptoms can vary in severity and may start gradually or come on suddenly.

Diagnosing Wilson's disease can be challenging as the symptoms can mimic other conditions. However, several tests and procedures can help doctors reach a diagnosis:

Clinical Assessment

A healthcare professional will conduct a thorough medical history and physical examination to identify symptoms and signs associated with Wilson's disease.

Blood and Urine Tests

• Blood tests may be performed to assess liver function and measure the levels of ceruloplasmin, a protein that binds to copper. Low ceruloplasmin levels may indicate Wilson's disease.
• Urine tests may be conducted to measure the amount of copper excreted in the urine over a 24-hour period.

Slit Lamp Examination

An eye examination using a slit lamp may be performed to check for Kayser-Fleischer rings, which are golden-brown rings in the cornea caused by copper deposits.

Liver Biopsy

A liver biopsy may be recommended to assess the degree of copper accumulation in the liver tissue. This involves taking a small sample of liver tissue for examination.

Genetic Testing

Genetic testing is crucial for confirming the diagnosis of Wilson's disease. It involves analysing the ATP7B gene for mutations associated with the condition. Identification of mutations in both copies of the gene confirms the diagnosis.

Imaging Studies

Imaging studies such as ultrasound, CT scans, or MRI may be conducted to assess the size and condition of the liver and other organs affected by copper accumulation.

Neurological and Psychiatric Evaluation

A neurological and psychiatric assessment may be performed to evaluate symptoms related to the central nervous system.

The combination of these diagnostic methods helps in confirming the presence of Wilson's disease. If Wilson's disease is diagnosed, ongoing monitoring and follow-up care are essential to manage the condition effectively and optimise the individual's quality of life. A healthcare professional, typically a hepatologist or a genetic counsellor, plays a key role in the diagnostic process and ongoing management of Wilson's disease.

Wilson's disease is a chronic condition, but with proper treatment, individuals can lead normal, healthy lives. Treatment aims to reduce copper accumulation, prevent further damage to organs, and manage symptoms. The primary modalities for Wilson's disease treatment include:

Medications

Chelating Agents: Medications like penicillamine and trientine bind to copper in the body, allowing it to be excreted in urine. These drugs help reduce copper levels.

Zinc Supplements: Zinc interferes with copper absorption in the digestive tract. It is often used as maintenance therapy to prevent copper buildup. Zinc is usually prescribed in the form of zinc acetate or zinc gluconate.

Liver Transplant

In severe cases where liver damage is advanced and not responding to medication, liver transplantation may be considered. A transplant provides a healthy liver, eliminating the source of abnormal copper metabolism.

Symptomatic Treatment

Neurological and psychiatric symptoms may require specific medications for symptom management. For example, medications for tremors, movement disorders, or psychiatric symptoms may be prescribed.

Dietary Changes

Individuals with Wilson's disease are often advised to follow a low-copper diet, limiting the intake of foods high in copper, such as organ meats, shellfish, nuts, and chocolate.

Regular Monitoring

Regular follow-up appointments and monitoring of copper levels in blood and urine are crucial to adjust treatment and ensure its effectiveness. Adjustments to medication dosages may be made based on monitoring results.

It's important to note that Wilson's disease treatment is typically lifelong, and adherence to medications and dietary recommendations is essential for successful management. With proper treatment, many individuals with Wilson's disease can lead healthy lives. Individuals diagnosed with Wilson's disease should work closely with healthcare professionals, including hepatologists, neurologists, and dietitians, to tailor a comprehensive treatment plan based on their specific needs and symptoms.

If left untreated or inadequately managed, Wilson's disease can lead to various complications due to the accumulation of copper in different organs. The severity and nature of complications can vary among individuals. Some common complications associated with Wilson's disease include:

Liver Complications

• Liver damage: Excess copper buildup can damage liver cells, leading to inflammation (hepatitis), scarring (cirrhosis), and ultimately liver failure.
• Portal hypertension: Increased pressure in the blood vessels around the liver due to scarring, causing fluid buildup in the abdomen (ascites) and internal bleeding from swollen veins (varices).
• Hepatic encephalopathy: Accumulation of toxins in the blood due to impaired liver function, leading to confusion, drowsiness, and coma.

Neurological Complications

• Movement disorders: Tremors, muscle stiffness, clumsiness, difficulty walking, and speech problems.
• Cognitive decline: Memory loss, difficulty concentrating, learning difficulties.
• Psychiatric issues: Depression, anxiety, personality changes, psychosis.

Other Complications

• Kidney problems: Copper accumulation can damage the kidneys, leading to kidney stones, impaired function, and even kidney failure.
• Osteoporosis: Weakening of the bones, increasing the risk of fractures.
• Eye problems: Kayser-Fleischer rings on the cornea, and potentially vision impairment.
• Nutritional deficiencies: Reduced absorption of essential nutrients due to impaired bowel function.

Early diagnosis and adherence to treatment are crucial for preventing these complications. By removing excess copper and protecting affected organs, the risk of complications can be significantly reduced.

While it is not possible to entirely prevent Wilson's disease, it is feasible to delay or slow its onset. Early detection plays a crucial role in managing the condition. Initiating medications, such as zinc, upon discovering Wilson's disease early may help prevent the manifestation of symptoms. Parents concerned about the risk of passing on Wilson's disease to their children can seek guidance from a genetic specialist, who can assess and provide insights into their potential risk factors.

What factors influence Wilson’s disease treatment?

Factors that influence Wilson’s disease treatment include:

• Age and overall health of the patient.
• Severity of symptoms and organ damage.
• Individual response to different medications.
• Long-term monitoring and adjustments are crucial for successful management.

What are the treatment options for individuals diagnosed with Wilson's disease during pregnancy? 

If pregnant, it is advisable to consult with your healthcare provider regarding the continuation of Wilson's disease treatment. The provider may consider prescribing a reduced dose of chelating agents since the foetus requires a minimal amount of copper. It is beneficial to have an obstetrician with knowledge of Wilson's disease for comprehensive care. Additionally, inquire with your provider about the safety of breastfeeding while undergoing treatment for Wilson's disease.

How often should individuals with Wilson's disease undergo medical monitoring and check-ups?

The frequency of medical monitoring depends on the severity of the condition. Typically, individuals are monitored regularly, with blood and urine tests to assess copper levels and liver function.

Can stress or certain medications exacerbate symptoms of Wilson's disease?

Stress and certain medications may potentially worsen symptoms in some individuals with Wilson's disease. It's essential to inform Wilson’s disease doctor about all medications and manage stress for optimal health.

Are there support groups or communities for individuals and families affected by Wilson's disease?

Yes, there are support groups and online communities where individuals and families affected by Wilson's disease can share experiences, gain support, and access valuable information.

Can individuals with Wilson's disease participate in regular physical activities and exercise routines?

In general, individuals with Wilson's disease can engage in regular physical activities. However, it's advisable to consult with healthcare providers to tailor exercise plans based on individual health conditions.

How does Wilson's disease impact fertility and family planning?

Wilson's disease may affect fertility in some cases. Individuals planning a family should discuss potential risks and considerations with healthcare providers and genetic counsellors.

Are there any advancements in research or new treatments being explored for Wilson's disease?

Ongoing research is exploring new treatment approaches and medications for Wilson's disease. Staying informed about recent advancements can be beneficial for individuals with the condition.

Can I still consume certain types of chocolate or coffee in moderation?

While it's generally advisable for individuals with Wilson's disease to limit copper-rich foods, moderate consumption of chocolate or coffee is usually acceptable. However, it's crucial to monitor overall copper intake and consult with a healthcare provider or dietitian for personalised dietary recommendations.

What are the potential side effects of different Wilson Disease medications, and how can I manage them?

The potential side effects of Wilson's disease medications, such as chelating agents or zinc supplements, can vary. Common side effects may include gastrointestinal issues or allergic reactions. It's essential to communicate any side effects to your healthcare provider promptly. Adjusting medication doses, taking medications with food, or trying alternative formulations may help manage side effects. Regular follow-ups with your healthcare team are crucial for monitoring and adjusting the treatment plan as needed.

Reviewed By Dr Vibhu Mittal, Director Gastroenterology, Hepatology & Endoscopy on 17 July 2024.