What is Wilson’s Disease?

Wilson’s disease is a rare genetic disorder characterized by excess copper stored in various body tissues, particularly the liver and brain. The disease is progressive and if left untreated it can cause liver disease, central nervous system dysfunction and even death. Early diagnosis and treatment can prevent serious long-term disability and life-threatening complications. The treatment aims to reduce the amount of copper that accumulates in the body and then maintain normal copper levels. You can find more information below.

What is Wilson’s disease?

Wilson’s disease is a rare genetic disease that causes copper buildup in the liver, brain, and other vital organs. Most people with Wilson’s disease are diagnosed between the ages of 5 and 35, but it can affect younger and older people as well.

Copper plays an important role in the development of healthy nerves, bones, collagen and the skin pigment melanin. Normally, copper is absorbed from food and the excess is excreted with a substance (bile) produced in the liver.

But in people with Wilson’s disease, copper is not eliminated properly and instead accumulates to a possibly life-threatening level. When diagnosed early, Wilson’s disease is treatable and many people with the disorder have normal lives.

What causes Wilson’s disease?

Wilson’s disease is inherited as an autosomal recessive trait, which means that one copy of the defective gene must be inherited from each parent in order to develop the disease. If only one abnormal gene is inherited, the recipient will not develop the disease, but will be a carrier and be able to pass the gene on to their children.

Read More  What is Turner Syndrome? What are the Causes, Symptoms and Treatment?

Who is at risk?

There may be an increased risk of Wilson’s disease if parents or siblings have the condition in the family. People in doubt may ask their doctor if they need genetic testing to find out if they have the disease. Also, diagnosing the condition as early as possible significantly increases the chances of successful treatment.

What are the symptoms of Wilson’s disease?

This genetic disease is congenital, but symptoms do not appear until copper accumulates in the brain, liver, or other organs. Symptoms vary depending on the parts of the body affected by the disease. Symptoms of Wilson’s disease may include:

  • Fatigue, loss of appetite or stomachache
  • Yellowing of the skin and whites of the eyes (jaundice)
  • Golden-brown eye discoloration
  • Fluid buildup in the legs or abdomen
  • Speech, swallowing, or physical coordination problems
  • Uncontrolled movements or muscle stiffness

When should you see a doctor?

It is always a good idea to see a doctor if a person has symptoms that are cause for concern, especially if a family member has Wilson’s disease.

How is Wilson’s disease diagnosed?

Wilson’s disease can be difficult to diagnose because its symptoms are often difficult to distinguish from other liver diseases such as hepatitis. Also, symptoms may develop over time. The gradual behavioral changes may be particularly difficult to attribute to Wilson.

Doctors rely on a combination of symptoms and test results to make a diagnosis. Tests and procedures used to diagnose this genetic disease include:

  • Blood and urine tests: Blood tests can monitor liver function and check the level of a copper-binding protein in the blood and the level of copper in the blood. The doctor may also want to measure the amount of copper excreted in the urine over a 24-hour period.
  • Eye test: Using a microscope with a high-intensity light source (slit lamp), an ophthalmologist checks the eyes for Kayser-Fleischer rings, which are caused by excess copper in the eyes. Wilson’s disease is also associated with a type of cataract.
  • Removing a sample of liver tissue for testing (biopsy): The doctor inserts a thin needle through the skin into the liver and takes a small sample of tissue. A lab tests the tissue for excess copper.
  • Genetic testing: A blood test can identify the genetic mutations that cause Wilson’s disease. Knowing the mutations in the family allows doctors to screen siblings and begin treatment before symptoms appear.
Read More  What Is Tay Sachs Disease?

How is Wilson’s disease treated?

Treatment for Wilson’s disease is life-long and aims to reduce copper levels to non-toxic levels, prevent disease progression, and reverse symptoms caused by copper buildup in the body.

Treatment can be divided into three parts; first, treatment of symptomatic patients, second, maintenance therapy after copper reduction in the affected tissues, and third, maintenance therapy in asymptomatic patients can be used from the outset.


If medication is being taken for this genetic disease, the treatment will be lifelong. Possible medications include:

  • Penicillamine: Penicillamine, a chelating agent, can cause serious side effects such as skin and kidney problems, bone marrow suppression, and worsening of neurological symptoms. Penicillamine should be used with caution if the person taking the drug is allergic to penicillin. It also prevents vitamin B-6 from working, so it may be necessary to take a supplement in small doses.
  • Trientine: Trientine works like penicillamine but tends to cause fewer side effects. Neurological symptoms may still worsen while taking trientine.
  • Zinc acetate: This drug prevents the body from absorbing copper from food eaten. It is used as maintenance therapy to prevent re-accumulation of copper after treatment with penicillamine or trientine. Zinc acetate can also be used as primary therapy if penicillamine or trientine cannot be taken. Zinc acetate may cause stomach upset.

The doctor may also recommend other medications for symptom relief. Remember, your doctor will decide which medicine to take and how.


If liver damage is severe, a liver transplant may be needed. During a liver transplant, the surgeon removes the diseased liver and replaces it with a healthy liver from a donor.

Read More  What is Cystic Fibrosis? What are the Causes, Symptoms and Treatment?

Most transplanted livers come from deceased donors. But in some cases, a liver may come from a living donor, such as a family member. In this case, the surgeon removes the diseased liver and replaces it with part of the donor’s liver.

Lifestyle and home remedies

If a person has Wilson’s disease, the doctor will likely recommend limiting the amount of copper consumed in the diet. If the person concerned has copper pipes in their home, he may also request that the copper levels of the tap water be tested. Multivitamins containing copper should also be avoided.

Foods that contain high amounts of copper include:

  • Liver
  • shellfish
  • Mushrooms
  • Hazelnut
  • Chocolate

Wilson’s disease complications

Left untreated, Wilson’s disease can be fatal. Serious complications include:

  • Cirrhosis: As liver cells try to repair damage caused by excess copper, scar tissue forms in the liver, making it harder for the liver to function.
  • Liver failure: This can occur suddenly (acute liver failure) or develop slowly over years (chronic liver failure). Liver transplantation may be a treatment option.
  • Persistent neurological problems: Tremors, involuntary muscle movements, gait problems, and speech difficulties usually improve with treatment for Wilson’s disease. However, some people have persistent neurological difficulties despite treatment.
  • Kidney problems: Wilson’s disease can damage the kidneys, causing problems such as kidney stones and an abnormal number of amino acids in the urine.
  • Psychological problems: These may include personality changes, depression, irritability, bipolar disorder or psychosis.
  • Blood problems: These may include destruction of red blood cells, which leads to anemia and jaundice.

Related Posts

Leave a Reply

Your email address will not be published.