Wilson's disease

Symptoms: Extreme tiredness (fatigue), muscle cramps, weakness, loss of appetite, nausea, vomiting, weight loss, fluid in your belly or legs.

Causes: Wilson's disease is a rare hereditary disorder that raises copper levels in the liver, brain, and eyes, among other organs.

Risk Factors: Individuals who have a family history of Wilson disease are more likely to develop the condition themselves, particularly if a parent, sibling, or child in their first degree is affected. In most cases, symptoms of Wilson's disease appear in people between the ages of five and forty.

Prevalence: Wilson's illness is not common. It is estimated that 1 in 30,000 people worldwide have it, but more recent genetic studies suggest it may be more common. A study conducted in the United Kingdom found that up to 1 in 7,000 people had the Wilson disease-associated gene mutation.

Severity: Mild to severe 

Which doctor to consult: Hepatologist, neurologist, psychiatrist, dietician

Overview:

Wilson disease is an uncommon hereditary disorder that develops when the body overproduces copper, particularly in the liver and brain. A small amount of copper from food is necessary for your body to remain healthy. Still, Wilson disease can result in elevated copper levels that pose a serious risk to your organs if left untreated.

Wilson disease is inherited by offspring from their parents. Every parent's copy of the faulty gene is needed. Since parents frequently don't experience any symptoms to alert them to their abnormal gene carry, it's very difficult to predict who will develop it. Your chances of contracting the illness increase if you have other close relatives who have it.

Wilson disease is thought to afflict 1 in 30,000 persons. It is more prevalent in those who have a family history of the illness. More individuals are carriers—those with only one copy of the faulty gene. Carriers can pass the disease on to their offspring, but they typically don't show any symptoms. It is difficult to determine the precise number of individuals in the general population who carry an aberrant copy of the gene because carriers do not exhibit any symptoms.

Wilson disease can have potentially fatal consequences if it is not identified and treated promptly. You run the risk of suffering organ damage when your body accumulates toxic levels of copper, particularly in the liver and brain. Elevated copper levels will impact your mood, frequently causing extreme fatigue, weakness, and discomfort or pain. Consult your healthcare provider for advice if you experience weakness, fatigue, or persistent pain.

Types of Wilson’s disease:

While there aren’t distinct “types” of Wilson’s disease, the condition can manifest in various forms depending on which organs are affected and the severity of the symptoms:

Hepatic Form:

• It presents primarily with liver-related symptoms such as jaundice, abdominal pain, and swelling due to fluid accumulation.
• It can lead to liver failure or cirrhosis if not treated.

Neurological Form:

• Affects the brain and nervous system, leading to symptoms like tremors, difficulty speaking, and personality changes.
• It may also include psychiatric symptoms such as depression or psychosis.

Psychiatric Form:

• Can manifest as behavioural changes, mood swings, or cognitive impairment without significant neurological signs1.

Ocular Form:

• Characterized by the presence of Kayser-Fleischer rings, which are copper deposits in the cornea that can be seen during an eye examination.

Other Forms:

• Some patients may experience symptoms related to other organ systems, such as kidney problems or blood disorders.

Symptoms of Wilson’s disease:

Symptoms associated with Wilson’s disease are:

Neurological symptoms: These may include tremors, difficulty walking, involuntary movements, speech problems, and cognitive decline.

Psychiatric symptoms: Personality changes, depression, and anxiety are common.

Hepatic symptoms: Liver-related issues can manifest as fatigue, abdominal pain, jaundice, and acute liver failure.

Ophthalmic symptoms: The presence of Kayser-Fleischer rings, a copper-like ring discolouration around the cornea, is a distinctive sign.

Other symptoms: Kidney problems, anemia, and abnormal blood counts can also occur.

Causes of Wilson’s disease:

The causes of Wilson’s disease are:

Genetic Inheritance: Wilson’s disease is caused by an inherited defect in the ATP7B gene. It is an autosomal recessive disorder, which means that both parents must pass on the same abnormal gene to the child. Even if parents have only one abnormal gene, they may show no signs of the disease but are carriers.

Abnormalities in Liver Function: The condition arises due to abnormalities in the liver, which prevent adequate disposal of copper from the body. As a result, copper accumulates in the liver and other body tissues.

Copper Accumulation: Toxic levels of copper build up in various organs, especially the liver and brain, putting individuals at risk of organ damage. Increased copper levels can cause symptoms such as fatigue, weakness, and pain.

Early diagnosis and treatment are crucial to prevent life-threatening complications associated with Wilson’s disease. If you suspect this condition, seek medical attention promptly.

Risk factors:

The risk factors associated with Wilson’s disease:

Genetic Inheritance: The main risk factor for Wilson’s disease is having two copies of a mutated ATP7B gene, one from each parent. This condition is known as autosomal recessive inheritance. Therefore, having parents who are carriers of the disease significantly increases the risk.

Family History: If your parents or siblings have Wilson’s disease, you are at greater risk of developing the condition. It’s essential to discuss your family history with your doctor and consider genetic testing to determine if you carry the gene.

Early diagnosis is crucial for successful treatment, and many people with Wilson’s disease can lead normal, healthy lives with proper management. If you suspect this condition, seek medical attention promptly.

Possible complications:

Wilson’s disease can lead to several serious complications if not treated properly. Here are some of the potential complications associated with Wilson’s disease:

Liver Damage: Over time, copper accumulation can cause scarring of the liver, known as cirrhosis. This can impair liver function and lead to liver failure.

Neurological Issues: High copper levels can cause lasting damage to the nervous system, resulting in symptoms like tremors, difficulty with movement, and cognitive decline.

Kidney Problems: The kidneys can also be affected, leading to various renal issues.

Mental Health Issues: Copper buildup in the brain can lead to psychological changes, including depression, anxiety, and, in severe cases, psychosis.

Blood Problems: There may be a decrease in red blood cells, leading to anemia, and other blood-related issues.

It’s crucial to manage Wilson’s disease with appropriate treatment to prevent these complications and maintain quality of life.

Prevention:

Currently, there is no known way to prevent it. However, early detection and management are key to preventing the complications associated with the disease. Here are some steps that can be taken:

Genetic Counselling: If you have a family history of Wilson’s disease, genetic counselling can help assess the risk for current or future children.

Early Screening: For families known to carry the Wilson’s disease gene, early genetic screening can be crucial. This allows for the possibility of early intervention before symptoms develop.

Regular Monitoring: If you are at risk or have been diagnosed with Wilson’s disease, regular monitoring of copper levels and liver function can help manage the condition effectively.

Treatment Compliance: For those diagnosed with Wilson’s disease, adhering to treatment plans, including medications like chelating agents and zinc acetate, is essential to prevent copper accumulation.

It’s important to consult healthcare professionals for personalized advice and management strategies if you are at risk for Wilson’s disease.

When to see a doctor?

If you have symptoms that concern you, schedule a visit with your physician or another primary care provider. This is especially important if you have a family member with Wilson's disease.

Diagnosis:

Diagnosing Wilson’s disease can be challenging due to its symptoms often resembling other liver diseases. However, a combination of tests and procedures are used to make a diagnosis:

Blood and Urine Tests: These tests monitor liver function and check the level of ceruloplasmin, a protein that binds copper in the blood. They also measure the amount of copper in the blood and the copper excreted in urine over 24 hours.

Eye Exam: An eye doctor may perform a slit-lamp exam to check for Kayser-Fleischer rings, which are caused by excess copper in the eyes. A type of cataract called a sunflower cataract can also be seen during an eye exam.

Liver Biopsy: A small sample of liver tissue is taken to test for excess copper.

Genetic Testing: A blood test can identify the genetic mutations that cause Wilson’s disease. This is particularly useful for screening family members to determine if they carry the gene.

Treatment:

The treatment options for Wilson’s disease focus on reducing the excess copper in the body and preventing its accumulation. Here are the main treatments used:

Copper Chelating Agents: Medications like Penicillamine and Trientine bind to copper and help the body to release it into the bloodstream, from where it is filtered by the kidneys and excreted in urine.

Zinc: Zinc supplements are used to prevent the intestines from absorbing copper. Doctors may prescribe zinc as a maintenance treatment after chelating agents have removed extra copper from the body.

Dietary Changes: Patients are advised to limit the amount of copper in their diet. This includes avoiding foods high in copper and, if necessary, testing and avoiding drinking water from copper pipes.

Lifelong Treatment: Treatment for Wilson’s disease is lifelong. Stopping treatment may cause acute liver failure, so regular blood and urine tests are performed to monitor the treatment’s effectiveness.

For severe liver damage, a liver transplant might be necessary. Individuals with Wilson’s disease need to work closely with healthcare providers to manage their condition effectively.

Alternative therapies:

While the primary treatment for Wilson’s disease involves chelation therapy and zinc supplementation, some alternative and supportive therapies can be considered:

Physical Therapy: This includes training in mobility, gait stability, posture, and positioning. Exercise programs can also be designed to increase muscle function, coordination, balance, and endurance.

Occupational Therapy: Helps patients with Wilson’s disease in maintaining everyday skills and promoting independence.

Pain Management: Techniques to manage pain associated with the condition.

Additionally, new therapeutic options are emerging. For instance, trientine tetrahydrochloride has been developed as an alternative to traditional chelators. It’s important to note that these therapies should be used in conjunction with, not as a replacement for, conventional treatments.

Research is also ongoing for novel treatments, such as new chelating agents, gene therapy, and variant-specific treatments, which may improve neurological outcomes.