What is Wilson’s Disease? Its Symptoms, Causes, Treatment

Wilson Disease is a rare genetic disorder identified by an accumulation of copper in the liver and brain, among other organs, due to the body’s incapacity to metabolise copper properly. Samuel Alexander Kinnier Wilson, a British neurologist, initially reported this disease in 1912. It is also referred to as hepatolenticular degeneration.

In this article, we discuss every aspect of Wilson’s Disease, including its meaning, signs and symptoms, underlying causes, and available treatments.

What is Wilson’s Disease?

Wilson Disease is an uncommon genetic condition that impairs the body’s capacity to properly metabolise copper, causing it to build up in the body’s many organs, particularly the brain and liver.  The ATP7B gene mutations that cause it interfere with the body’s ability to eliminate extra copper. 

A lot of symptoms, such as liver problems, neurological problems like tremors and coordination problems, and psychiatric symptoms like anxiety and depression, may be caused by such accumulation.

Symptoms of Wilson Disease

Wilson disease can impact more than one organ system and has a wide range of symptoms. Here, we look into common symptoms of Wilson’s Disease and how they affect the health of patients.

Liver Symptoms

Wilson disease is mainly a liver disease that causes a range of symptoms that can seriously impair a person’s health and quality of life. Wilson’s disease often appears as jaundice, which is defined as the yellowing of the skin and eyes.

It happens because the liver is unable to properly process and eliminate bilirubin, a waste product of the breakdown of red blood cells. The liver’s enlargement and inflammation can also result in abdominal pain and swelling. A minority may experience sudden liver failure.

A person with Wilson disease may also experience fatigue, nausea, and appetite loss as a result of liver function abnormalities, which adds to the overall burden of symptoms.

Neurological Symptoms

Wilson’s Disease is characterised by excessive copper accumulation in the brain, which can lead to a number of neurological symptoms that have a significant influence on a person’s motor function and cognitive abilities. Tremors are a common neurological symptom of Wilson’s Disease, which includes unintentional trembling of the hands or other body parts.

Ataxia, or a lack of coordination, can also happen, which makes it difficult for people to stay balanced and move in a coordinated manner. Dystonia, a type of voluntary muscle contraction that can result in abnormal postures or repetitive twisting movements, is also one of the symptoms.

The neurological symptoms of Wilson’s Disease can be made more complex by the fact that certain people may have trouble speaking and may also have cognitive impairment, which includes issues with memory, attention, and executive function.

Psychological Symptoms

Wilson Disease can have a significant impact on a person’s mental and emotional well-being in addition to its physical symptoms. Wilson Disease patients often suffer from psychiatric symptoms, which can have an extremely negative influence on their quality of life. These symptoms include anxiety, depression, and personality changes.

Doctors may face difficulties in diagnosing patients if psychological symptoms appear first or simultaneously with physical symptoms. Wilson Disease patients may go through phases of increased stress and nervousness as well as depressive disorders and ignorant periods.

Causes of Wilson Disease

Here are a few causes of Wilson’s disease:

Genetic Mutations

The leading cause of Wilson’s disease is mutations in the ATP7B gene, found on chromosome 13. These genetic changes impair the ATPase beta protein’s ability to transport copper, which results in poor copper metabolism and accumulation in the body.

Disrupted Copper Metabolism

Wilson’s disease prevents copper from being adequately metabolised and transported across cell membranes. This causes the copper to accumulate in organs like the liver, brain, and cornea. This accumulation can lead to tissue damage and various symptoms associated with Wilson’s disease.

Stress and Tissue Damage

Stress and tissue damage amplify Wilson’s disease symptoms by triggering the release of stored copper into the bloodstream. This sudden increase in circulating copper worsens the condition’s effects as it overwhelms the body’s capacity to manage its copper levels.

Autosomal Recessive Inheritance

Affected individuals receive two copies of the mutated ATP7B gene, one from each parent, as Wilson’s disease has an autosomal recessive inheritance pattern.  Carriers of one mutated gene typically do not display symptoms but can pass the gene on to their offspring. Wilson’s disease affects men and women in equal measure.

Environmental Factors

Genetic mutations primarily cause Wilson’s disease, but environmental variables like excessive copper intake or exposure to certain chemicals can interact with genetic predisposition and affect the disease’s clinical path. Avoiding these environmental triggers can help manage the condition and minimise its impact on affected individuals.

Treatment Options for Wilson Disease

There are a number of treatment options for Wilson’s Disease that can be used to control the condition and reduce its symptoms:

Chelating Agents

Chelation agents, like trientine and D-penicillamine, are essential parts of the Wilson Disease treatment plan. These drugs function by attaching themselves to excess copper in the body and creating stable complexes that the body can eliminate through urination. Chelation agents help lower the amount of copper in tissues and organs by facilitating its removal, which relieves symptoms and stops additional damage. It’s crucial to remember that chelating agents may have adverse effects and need to be carefully monitored by medical professionals.

Zinc Supplements

Zinc supplements are necessary for the treatment of Wilson’s disease because they prevent the gastrointestinal tract from absorbing copper. Zinc contributes to maintaining copper levels within normal ranges and preventing additional accumulation in tissues, especially in the liver and brain, by obstructing copper uptake. 

Zinc supplements are an advantageous supplemental therapy for Wilson Disease patients as they are generally easily tolerated and cause fewer side effects than chelating agents.

Dietary Modifications

Dietary modifications are essential for controlling Wilson’s disease and lowering the body’s burden of copper buildup. A low-copper diet, which excludes foods high in copper content like shellfish, nuts, seeds, and chocolate, is recommended for people with Wilson disease. People can lessen the chance of complications and slow its growth by consuming a lesser amount of copper through food.

Liver Transplantation

Liver transplantation could be required in cases of severe Wilson Disease-related liver failure or damage to restore liver function and enhance overall health outcomes. People with advanced liver disease can find a long-term solution with liver transplants, which replace the damaged liver with a healthy donor liver. 

For Wilson Disease patients who are not responding to medical treatment or who have developed potentially fatal complications, liver transplantation can dramatically increase survival rates and quality of life.

Continuous Healthcare Monitoring

Wilson Disease patients require routine medical monitoring in order to evaluate the effectiveness of their treatment, track copper levels, identify any complications, and track the development of the disease. Doctors often conduct routine blood tests to measure copper levels and liver function in addition to imaging tests like MRIs and ultrasounds to evaluate liver health. Close communication between patients and healthcare providers is essential to maximise treatment outcomes and ensure compliance with treatment plans.


In conclusion, Wilson’s disease is a genetic disorder that can have a substantial effect on a person’s health and overall well-being. Wilson Disease poses particular difficulties for diagnosis and treatment due to its genetic causes and its extensive symptoms that affect multiple organ systems. Patients with Wilson disease can have pleasant and fulfilling lives if they receive early detection, suitable treatment, and continuing medical care.


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