Wilson's Disease: Symptoms, Diagnosis, Treatment, Prognosis

Wilson's disease is a rare inherited disorder in which too much copper builds up in your body. Your body needs some copper from food to function, but if you have Wilson's disease, your body cannot get rid of any excess copper. The copper then builds up in your liver, eyes, brain, and kidneys, and can lead to serious consequences, and even death.

Wilson's disease is rare and affects one in 300,000 people. The disease is passed down through generations via recessive genes, meaning that both parents carry a gene (without knowing it) and pass both of those genes onto you. If you and your partner both carry a recessive gene, there is a 25% risk that your child will be affected.


Symptoms are generally noticed between six and 20 years old, even though patients have had the condition since birth. The copper tends to accumulate in your liver, eyes, kidneys, and brain.

The copper is toxic to the liver and can cause hepatitis, or inflammation of the liver, which may in turn cause you to experience abdominal pain, vomiting, and jaundice. If the copper is not removed, then the liver becomes scarred (cirrhosis), and this can lead to liver failure.

Copper in your brain can cause physical symptoms, such as reduced coordination, unsteadiness, and shaking or tremor. Also, you may experience difficulty with speech or swallowing, headaches, and even seizures. Eventually, the excess copper can cause muscular weakness, stiffness, and dementia. Psychological symptoms, such as difficulty concentrating, low mood, and depression are also possible.

Copper can also build up in the corneas of your eyes. This can cause Kayser-Fleischer rings, which your doctor may recognize as a brown pigment in your eyes.

Other symptoms include heart problems, anemia, pancreatitis (inflamed pancreas), repeated miscarriages (in females), and premature osteoporosis.


If Wilson's disease runs in your family, you and your siblings should be screened as well.

If you or your partner is pregnant, it may be possible for you to have tests completed during the pregnancy. Discuss this with your GP or obstetrician, who will be able to advise you further.

The tests that you may have examine caeruloplasmin levels in your blood, copper in your urine, or copper deposits in your eyes, brain, or liver.


It is essential that you have treatment for life if you are afflicted by Wilson's disease. The earlier treatment is started, the better the prognosis.

Food with high copper levels should be avoided. This includes shellfish and seafood, some meats, nuts, mushrooms, and chocolate (especially dark chocolate).

Drug treatment is aimed at trying to clear the excess copper. Penicillamine and Trientine may be given to remove copper in the urine. Zinc works by stopping your digestive system from absorbing copper from food. Hence, as it prevents further absorption, it does remove any excess copper already present. Zinc is better tolerated than penicillamine and trientine, but is usually used at early diagnosis or in maintenance therapy.

Some people do not respond to drug treatment and this can lead to liver failure. The only option after this would be to have a liver transplant.


If treatment is started early, you can expect a normal life expectancy. With treatment, symptoms should be able to be controlled, and your specialist can advise you on this. If have no treatment, Wilson's disease is usually fatal by the age of 40 years old.

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