Wilson’s disease

Wilson’s disease

Wilson’s disease is a rare inherited disorder which can cause copper to accumulate in your brain, liver, and other vital organs. Most people with this condition are diagnosed between the ages of 5 and 35, though it can sometimes even affect older people. The condition is known to affect 1 to 30,000 people worldwide.

In a healthy body, the liver filters out any excess copper and releases it through urine. However, in people having Wilson’s disease, the liver is unable to remove the extra copper properly. The extra copper then builds up in organs like the brain, the liver, and the eyes.

In order to stop the progression of the condition, early diagnosis is crucial. Delaying treatment or not receiving it, can lead to brain damage, liver failure, or other life-threatening conditions.


Wilson’s disease can be present at birth, but signs and symptoms generally appear only after the copper builds up in the brain, liver, or other organs. Signs and symptoms can vary depending on the parts of your body, which are affected by the condition.

Some of the symptoms can include:

  • Fatigue
  • A yellowing of the skin as well as the whites of the eye
  • Fluid buildup in the legs or abdomen
  • Golden-brown eye discoloration
  • Problem speaking or swallowing or physical coordination


If you experience any symptoms that worry you, you should consider seeing your doctor.


Wilson’s disease is inherited as an autosomal recessive trait. This means that in order to develop the disease, you must inherit a copy of the defective gene from each parent. If you receive only one of the genes, you will not get ill yourself, though you will become a carrier and can pass on the gene to your child.

You are at an increased risk of having this condition if your parents or siblings have it.


Diagnosing Wilson’s disease can be a challenge. This is due to the fact that the signs and symptoms are quite hard to tell from those of other liver diseases, like hepatitis. Symptoms may evolve over time as well. Doctors can use a combination of symptoms and multiple test results to make and confirm a diagnosis.

Some of the tests and procedures that might be used include:

Blood and urine tests

Blood tests can help in monitoring your liver function as well as check the level of a protein that binds copper in the blood as well as the level of copper in your blood. Your doctor can also measure the amount of copper excreted in your urine during a period of 24 hours.


This method involves your doctor inserting a thin needle through your skin, into your liver. He/she draws a small sample of tissue that is tested in the laboratory for excess copper.

Eye exam

Eye test Image
With the help of a microscope having a high-intensity light source, i.e. a slit lamp, an ophthalmologist checks your eyes for Kayser-Fleischer rings, which is caused by too much copper in the eyes. Wilson’s disease is associated with a type of cataract as well, which is known as a sunflower cataract. It can be detected during an eye exam.

Genetic testing

A blood test can help to identify the genetic mutations that lead to Wilson’s disease. Knowing the mutations in your family can allow doctors to screen siblings and begin treatment before any kind of symptoms arise.


First, your doctor might recommend medications that are known as chelating agents, which are able to bind copper and then prompt the organs to release it into your bloodstream. This copper is then filtered by the kidneys, after which it is then released into your urine.


There are various kinds of other medications that your doctor might recommend to relieve any symptoms.


Liver transplant

However, if your liver damage is quite severe, then you might need a liver transplant. A transplant involves your diseased liver being replaced by your surgeon, with a healthy liver from a donor.

Transplanted livers generally come from donors who have died. But sometimes, it can also come from a living donor, such as a family member. In such cases, the diseased liver is removed and replaced with a portion of the donor’s liver.


If left untreated, Wilson’s disease can be quite fatal. Some of the complications it can cause include-

  • Cirrhosis: As the liver cells try to repair any damage which was done by too much copper, scar tissue can form in the liver.
  • Liver Failure: This can occur suddenly, or may develop over the years slowly. A liver transplant might be a treatment option if so is the case.
  • Kidney problems: Wilson’s disease can damage your kidneys and lead to problems, such as kidney stones as well as an abnormal number of amino acids excreted in the urine.
  • Persistent neurological problems: Tremors, involuntary muscle movements, clumsy gait as well as speech difficulties generally improve with treatment for Wilson’s disease. Some people, however, suffer persistent neurological difficulty despite treatment.
  • Psychological problems: These can include personality changes, irritability, depression, bipolar disorder, or even psychosis.
  • Blood Problems: Blood problems may include the destruction of red blood cells or hemolysis, which can lead to anemia and jaundice.


Although Wilson’s disease is not preventable, you can prevent the symptoms of the condition, if it is diagnosed early.


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