Wilson’s Disease: Symptoms & Causes

Wilson’s disease is caused by a genetic mutation in the ATP7B gene, which is responsible for regulating copper levels in the body. Under normal circumstances, copper is absorbed from food and processed by the liver. The liver then excretes excess copper through bile, maintaining a healthy balance of copper in the body.

However, in Wilson’s disease:

• ATP7B gene mutation: This gene mutation impairs the liver’s ability to excrete excess copper, leading to its buildup in organs like the liver, brain, and corneas.

• Copper accumulation: As copper accumulates in the liver, it damages liver cells and disrupts normal liver function. Over time, excess copper also accumulates in the brain, particularly in areas that control movement and coordination, as well as in the corneas of the eyes, which may cause a characteristic brownish ring called Kayser-Fleischer rings.

• Inheritance: Wilson’s disease is inherited in an autosomal recessive manner, meaning a person must inherit two defective copies of the ATP7B gene—one from each parent—to develop the disease.

Wilson’s disease is a rare disorder, with the onset of symptoms usually occurring between the ages of 5 and 35. However, the disease can sometimes present at any age, depending on the amount of copper buildup and organ involvement.

The early symptoms of Wilson’s disease are often vague and can resemble other conditions, making it challenging to diagnose initially.

However, some common early signs include:

• Fatigue: General tiredness or weakness, especially after exertion.

• Abdominal discomfort: Pain or bloating, particularly on the upper right side, due to liver involvement.

• Jaundice: A yellowish tint to the skin and eyes, often caused by impaired liver function.

• Tremors: Shaking or fine motor control issues that may worsen over time.

• Personality changes: Unexplained shifts in mood, irritability, or psychiatric symptoms like depression or anxiety.

• Difficulty speaking or swallowing: Coordination issues affecting speech and swallowing as a result of copper buildup in the brain.

As the disease progresses, neurological symptoms may become more pronounced, including dysarthria (slurred speech), ataxia (lack of coordination), and dystonia (muscle spasms). Some patients may also experience psychological changes, such as personality disorders or cognitive decline.

The liver plays a central role in the development of Wilson’s disease.

Here’s how it is affected:

• Copper buildup: Due to the faulty ATP7B gene, the liver is unable to excrete excess copper. Instead, copper accumulates in the liver cells.

• Liver damage: The accumulation of copper leads to inflammation, oxidative stress, and liver cell damage. Over time, this can cause liver fibrosis (scarring) and eventually cirrhosis (severe scarring of the liver tissue).

• Disrupted liver function: As the liver becomes more damaged, it loses its ability to perform essential functions, such as detoxifying the body, producing proteins, and regulating cholesterol and blood sugar levels.

• Liver failure: If left untreated, the liver may deteriorate to the point of liver failure, which can be life-threatening and require a liver transplant.

• Symptoms of liver dysfunction: Patients may experience abdominal pain, nausea, swelling, and jaundice due to the liver’s inability to filter out toxins and regulate bile production.

Early detection and management of copper buildup can prevent severe liver damage and reduce the risk of progression to cirrhosis or liver failure. Regular monitoring of liver function is crucial for those diagnosed with Wilson’s disease.

Yes, Wilson’s disease is treatable, and with early diagnosis and appropriate treatment, individuals can manage the disease effectively and avoid severe complications.

Here are the treatment options:

• Copper-chelating agents, like penicillamine and trientine, bind to excess copper in the body and help eliminate it through urine, reducing copper buildup and preventing further liver and neurological damage. These medications are essential in managing Wilson’s disease.

• Zinc supplements: Zinc blocks the absorption of copper from the digestive tract and helps reduce copper accumulation in the liver.

• Dietary changes: Patients are advised to avoid foods rich in copper, such as shellfish, liver, nuts, and chocolate, to help reduce copper intake.

• Liver transplant: In cases of advanced liver disease or liver failure, a liver transplant may be necessary to replace the damaged liver with a healthy one.

• Ongoing monitoring: Regular monitoring of copper levels, liver function, and neurological symptoms is essential to track treatment efficacy and adjust medications as needed.

With proper treatment, most individuals with Wilson’s disease can lead normal, healthy lives. Lifelong treatment is usually required, and regular follow-up with a healthcare provider is essential to ensure that copper levels remain controlled and liver function is preserved.

At Digestive Disease Care, our experienced gastroenterologists specialise in diagnosing and managing complex liver and digestive disorders, including Wilson’s disease. This rare genetic condition, caused by the buildup of copper in the body, can lead to severe liver and neurological damage if left untreated. Our team is dedicated to providing early diagnosis through advanced blood tests, imaging, and screening, ensuring that Wilson’s disease is identified as early as possible. By recognising the early symptoms, such as fatigue, jaundice, and neurological symptoms like tremors and speech difficulties, we aim to prevent the progression of liver damage and improve the quality of life for our patients.

Our gastroenterologists work closely with hepatologists and other specialists to create a comprehensive treatment plan tailored to each patient’s unique needs. At Digestive Disease Care, we utilize cutting-edge therapies to manage copper levels in the body and prevent further damage to the liver and brain. Whether you are experiencing early symptoms or have been diagnosed with Wilson’s disease, our compassionate and skilled team is committed to providing the highest level of care and support, ensuring optimal outcomes for our patients. Please contact us for more information or request an appointment online. We have convenient locations to serve you in Babylon NY, East Setauket NY, Forest Hills NY, Jericho NY, Lake Success NY, Melville NY, Mineola NY, Massapequa NY, New Hyde Park NY and Riverhead NY.