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wilson's liver disease
February 3,2020
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Wilson’s Disease: What A Parent Should Know?

Parents want their children to be happy and healthy. But, unfortunately, some of these young kids develop syndromes or diseases like Wilson’s Disease, which can impair healthy growth.

Today, we take a look at crucial information about Wilson’s Disease in children.  

The basics about the disease

It is a rare genetic disorder that affects one out of every 30000 children. This disease is characterized by a substantial build-up of copper in the liver and the brain.

The disease can be either progressive or severe in different patients. Humans get copper from their food, and the body flushes out the excessive copper through the bile. Due to genetic misconfiguration, a child affected with the disease cannot flush the extra amount of copper through their bile, and it keeps getting accumulated. While a minor amount of copper is needed for regular cellular health, it can be toxic if present in elevated levels.

If the excess copper mixes with the bloodstream, it can damage the brain, nervous system, blood cells, eyes or kidneys. This disease can cause serious harm to the affected child if it is not diagnosed in time.

The causes

The onset is caused by a mutation in the ATP7B gene. This gene is responsible for the transportation of copper from the liver to other parts of the body for usage or excretion.

It is a genetic disease. Hence, it gets inherited from parents to the children. This disease transfers through faulty genes. If both of the parents carry the defective gene, then their children develop the disease. People with the carrier gene can show the symptoms of the disease and can also pass the condition to their children.

One in every 90 people has the possibilities to be the carrier of this deadly disease. Although it is a genetic disease, there are some reported cases where the patient developed the disease by other means.

The symptoms

The affected patient starts to show symptoms from early childhood to adolescence in general, but some exceptions are always there. Some patient first showed visible signs after they reach sixty.

The symptoms are-

  • Kayser-Fleischer Ring: Patient who suffers from Wilson’s disease develop a ring of rust-brown colour around their cornea. This ring is visible through an external examination.
  • Jaundice (skin, eyes, and cuticles turn yellow)
  • Abdominal pain or swelling in the abdomen
  • Fatigue
  • Bleeding
  • Vomiting blood
  • Psychiatric symptoms like difficulty in speaking, difficulty in swallowing food, rigid muscles, problems in keeping their balance and walking and frequent cases of tremors
  • Patients might also start talking late and have problems in doing routine work like reading, writing, or playing.

If the child shows any of the symptoms, the parents need to consult a doctor as soon as possible. Besides that, all the siblings must undergo the same tests to check if more than one cases of the disease are present.

 Wilson’s disease diagnosis

This disease often goes unnoticed and ignored. Only 2000 people in the USA have reported a successful diagnosis of the condition. Doctors usually diagnose the disease with the help of the symptoms and some pathological tests. If a patient shows all the symptoms mentioned above, then the doctor might choose to perform the following tests-

  • Urine test checks if the liver is damaged. It also verifies if the urine has an abnormal rate of copper in it.
  • Blood tests are necessary in this case. Patients suffering from Wilson’s disease have a low amount of ceruloplasmin in their body. Ceruloplasmin is the protein that carries copper in the blood. The low level indicates excessive copper build-up in the body.
  • Doctors prescribe for eye tests to check if the child has brown coloured Kayser-Fleischer ring in their eyes.
  • They may also do a liver biopsy to check if the liver has an abnormal amount of copper
  • The best way to diagnosis the disease through a genetic test. Since it is expensive, only a few people can avail it.

All these tests can successfully denote the presence of the disease even before any visible symptoms.

How is the disease treated?

As is the case with many conditions, prevention and early detection is the best cure. If the disease is detected at the initial stages, then the patient has a higher likelihood of leading a healthy life through lifelong treatment. Besides that, patients also need to follow a strict daily routine so that their body does not store excessive copper.

Medicines usually are given so that the body flushes the extra copper out. Doctors prescribe drugs kike Zinc Acetate, Trientine or Penicillamine to prevent copper build up on liver or body. Patients need to take medicines regularly without any hiatus to keep the disease under control.

In acute cases of Wilson’s disease, the liver can develop cirrhosis or stop working. In such cases, the patient may need a liver transplant to live longer.

TPAF initiative for Wilson’s disease

TPAF helps any patient who suffers from Wilson’s disease. They offer all types of consultation and guide in case of a pediatric liver transplant. TPAF is known as one of the largest centres for liver transplant in children and young adolescent patients. The medical team ensures the transplants are successful and offers care until the patient’s body accepts the operation successfully. They also provide other treatments to the patients of Wilson’s disease so that they can lead a normal life.



Wilson’s disease is a rare genetic disease that occurs in young children if their body is unable to secrete the excessive amount of copper. This disease can cause damage in the liver, nervous system and prevents healthy growth. The patients have an enhanced chance of recovery if the disease is diagnosed at the right time. Patients can also get a liver transplant if recommended by their doctors. TPAF offers all types of guidance to the patents of the affected children.

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