Wilson'S Disease

1 What is Wilson's Disease?

Wilson's disease is a rare inherited disorder which occurs due to accumulation of copper. It accumulated in liver, brain and other vital organs.

Symptoms develop typically between the ages of 12 and 23. Under normal circumstances copper plays a major role in development of nerves, bones, collagen and melanin (a pigment which give color to the skin) and any excess of copper is excreted via liver.

But in Wilson’s disease copper keeps on accumulating to a life-threatening level. If the condition is diagnosed on time, then it can be treated.

However, many people with this disorder may lead normal lives.   

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2 Symptoms

Signs and symptoms depend on the part of the body affected by Wilson’s disease.

They include:

  • fatigue,
  • loss of appetite,
  • abdominal pain,
  • jaundice (yellow color of skin and mucous membranes),
  • tendency to bruise easily,
  • fluid build-up in legs and abdomen,
  • problems with speech,
  • dysphagia (problems with swallowing),
  • physical incoordination,
  • uncontrolled movements
  • muscle stiffness.  

3 Causes

Wilson's disease is genetic, and its complications are caused by an over-accumulation of copper.

It is an autosomal recessive trait which means in order to have the disease the patient must inherit two defective genes from both parents.

If the patient receives only one, then he or she will be a carrier of this disease.

4 Making a Diagnosis

The biggest challenge in the case of Wilson disease is its diagnosis since the signs and symptoms often match with other conditions and they evolve over the time.

Behavioral changes are the most difficult to link with Wilson disease.

Therefore, doctors rely on family history and test results.

The tests which are done to diagnose Wilson’s disease are:

  • blood and urine tests to monitor liver function and check copper levels.
  • Eye exam to check for golden-brown discoloring of the eye (Kayser-Fleischer rings).
  • Removing a sample of liver tissue for testing (liver biopsy).
  • Genetic testing to identify genetic mutations that cause Wilson’s disease.

5 Treatment

Several treatment methods exist for Wilson's disease.

Certain medications like chelating agents that help to release copper from the body.

Then treatment focuses on preventing copper from building up in the body. When the liver gets completely damaged (beyond repair) liver transplant is the best option.

The most common medications include:

  • Penicillamine (a chelating agent and has serious side effects),
  • Trientine (similar to Penicillamine but have fewer side effects)
  • Zinc acetate (this prevents from absorbing copper).


A liver transplant is required to replace the damaged liver. Most transplanted liver come from dead people but in some cases liver is taken from living donor.

The surgeon removes the diseased part of liver and replaces it with healthy part of liver.

6 Lifestyle and Coping

Lifestyle modifications are necessary in order to cope with Wilson's disease.

Your doctor will advice to decrease the amount of copper. Getting the copper levels checked in the tap water is also advisable in such case.

Also taking multi-vitamins should be avoided.

Foods that contain high levels of copper include liver, shellfish, mushrooms, nuts and chocolates. Such foods should be avoided.

7 Risks and Complications

The risk of having a Wilson disease increases if someone from the family has this condition. It is advisable to undergo genetic counselling in such cases.

Early diagnosis can lead to complete elimination of the disease.

Following are the complications of the disease:

  • scarring of the liver also known as liver cirrhosis due to the damage of the hepatocyte (liver cell),
  • liver failure due to persistent scarring,
  • neurological problems,
  • kidney problems or failure
  • psychological problems like depression, psychosis or bipolar disorder.