Wilson’s disease is a hereditary condition in which the body cannot remove excess copper, which results in a copper build-up in the liver, brain, eyes, and other organs.

It is a rare genetic disorder that causes copper poisoning in the body and affects about 1 in 30,000 people around the world. High copper levels, if left untreated, may result in life-threatening conditions like liver damage. But, many people with this condition live normal and healthy lives with proper treatment and diet. 

Read on to know about the causes, symptoms, diagnosis, and treatment of Wilson’s disease. 


Wilson’s disease is caused by a gene mutation. This disease is inherited as an autosomal recessive trait, which means you must inherit the gene from both parents in order to get it. 

If you receive just one mutated gene, you will not get Wilson’s disease, but you will become a carrier and can pass on the gene to your children.


Wilson’s disease manifests itself in a variety of ways. 

The symptoms could be as follows:

  • Lack of appetite.

  • Fatigue.

  • Pain in the abdomen.

  • Muscle stiffness or uncontrolled muscle coordination.

  • Swelling or fluid buildup in the legs or abdomen.

  • Jaundice (yellowing of the skin and the whites of the eyes).

  • Kayser-Fleischer rings (golden-brown eye discolouration).

  • Difficulty in speaking, swallowing or physical coordination.


Wilson’s disease is diagnosed by your doctor based on your medical and family history. 

You may require additional tests like: 

  • Blood and urine tests: To check your liver function and monitor the level of a protein that binds copper in the blood (ceruloplasmin) and the level of copper in your blood.

  • Eye exam: To check for Kayser-Fleischer rings, caused by excess copper in the eyes. The test is done using a microscope with a high-intensity light source (slit lamp). Wilson's disease is also associated with sunflower cataract (a type of cataract) that can be detected in an eye exam.

  • Liver biopsy: A biopsy involves removing a sample of liver tissue for testing excess copper in the liver. A thin needle is passed through your skin, into your liver and a small sample of tissue is drawn and sent to the laboratory for examination.

  • Genetic testing: It is done to identify the genetic mutations that cause Wilson's disease. 


The treatment of Wilson’s disease depends on the severity of progression. Following are the treatment options:

  • Lifestyle Modifications

The main aim is to decrease the build-up of copper in the liver. Discuss your diet and copper-containing foods with your doctor. If you have Wilson’s disease, your doctor may advise you to avoid foods high in copper, such as chocolate, liver, mushrooms, nuts, and shellfish. You may have to avoid multivitamins that contain copper as well.

  • Medical Treatment

Wilson’s disease is treated with chelating drugs (that bind tightly to copper ions) like penicillamine, trientine, and zinc acetate. Your doctor may suggest zinc acetate if you have an allergy to penicillamine and trientine. You may require lifelong treatment to manage your symptoms and lessen or avoid organ damage.

  • Surgical Treatment

A liver transplant may be required if Wilson’s disease has caused acute liver failure or cirrhosis with liver failure.

Wilson’s disease might be a lifelong condition, but early detection is the key to preventing or delaying this condition. Consult a doctor without delay if you notice any such signs and symptoms or if you have a family history of the disease.

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