What is Wilson’s Disease?
June 04, 2021 | Farah Jassawalla

What is Wilson’s Disease?

Wilson's disease is a rare genetic autosomal recessive disorder characterized by copper accumulation in the body, thereby preventing its release. The most affected organs are the liver, brain and corneas of the eyes.

The progression of Wilson's disease can be slowed down by early diagnosis, allowing the individual to live a normal life. However, if there is a delay in the treatment, it may lead to life-threatening conditions, like central nervous system dysfunction or psychotic problems, liver failure and eventually death.

Role of Copper in the Body

      Absorption of iron

      Production of blood cells

      Keeping the bones healthy

      Maintenance of the immune system, blood vessels and nerves

Although copper plays a key role in various body functions, if it builds up in the body, it leads to copper poisoning and is said to be fatal, as mentioned above in the description.

What Causes Wilson's Disease?

Typically, copper is taken up from food and the excess is released in bile and eliminated from the body. But in an individual with the atp7b gene mutation, the extra copper remains in the body and very little is excreted in the bile.

These mutations are autosomal recessive, i.e. the person inherits two copies of an abnormal gene from each parent.

If an individual receives one normal gene and one mutant gene, he/she is a carrier. Although no symptoms appear in carriers, there is a risk of passing the mutant gene to their children.

There is a 25% chance for a child to inherit normal genes from both parents. Males and females are at the same level of developing this disease. Researchers have identified more than 300 different mutations of the ATP7B gene.

Symptoms of Wilson's Disease

The symptoms are mostly specific to the organ being affected by Wilson's disease.

Nervous system:

These symptoms are more common in adults than in children and may vary from patient to patient.




      Irregular walk


      Difficulty in speech

      Difficulty in writing

      Problems with swallowing (dysphagia)

      Stiffness of muscles

      Changes in behavior

      Inability to concentrate

      Uncontrolled movements and muscle weakness


Inflammation of the liver or hepatitis is the most common symptom in patients with acute liver failure. Other symptoms include:

      Rapid weight loss

      Dark urine

      Itchy skin

      Edema (legs and abdomen)



      Nausea, vomiting

      Pain in the upper abdomen

      Pale colored stool

      Yellow discoloration (jaundice)

      High bruising tendency

      Cramps in muscles


Kayser-Fleischer rings

Studies have found that 9 out of 10 individuals suffering from Wilson's disease develop kayser-Fleischer rings. It is characterized by the development of brownish pigment around the cornea due to the copper buildup.

Sunflower cataracts

It is another ocular manifestation of Wilson's disease. In this disease, the eye consists of a greenish central disc with spokes that radiate outwards.

Eye involvement in Wilson’s disease usually does not lead to significant impairment of vision.

Other symptoms include:

      Hemolytic anemia

      Heart attack


      Kidney dysfunction

      Disturbance in menstruation cycle




      Osteoporosis ( thinning of bones)

      Osteophytes  (bony outgrowths)


Different types of physical tests and lab tests are used to diagnose Wilson's disease, as it is difficult to differentiate it from other diseases having similar symptoms. These tests include:

      Blood test

      Urine test

      Liver biopsy

      Listening to abdomen sounds

      Checking eyes under bright light


The treatment options for Wilson’s disease are:

      Copper chelating therapy (removal of excess copper)

      Trientine and zinc for 4-6 months for liver failure

      Penicillamine and zinc

      Modifications in diet (avoiding high copper intake)

Book your online appointment with Shifa4U to acquire the medications you need.

Farah Jassawalla

Farah Jassawalla is a graduate of the Lahore School of Economics. She is also a writer, and healthcare enthusiast, having closely observed case studies while working with Lahore's thriving general physicians at their clinics.