Wilson's Disease


Wilson’s disease is a hereditary disorder where there is deposition of copper in a number of vital organs of the body like the liver, brain and eyes.  It is an uncommon inherited disorder. There are number of symptoms that arises with calcium deposition depending upon the organ involvement. Common symptoms include clumsiness, tiredness, convulsion, impaired kidney function, heart failure and infertility.

The disease is a result of a genetic mutation affecting the protein that facilitates the removal of excess copper out of the body. There excess copper then accumulates in the body and is deposited in vital organs leading to symptoms of Wilson’s disease. Treatment options include intake of drugs to remove excess copper and to prevent absorption of copper from food. In severe cases, a liver transplant is required.


Wilson’s disease leads to a number of symptoms depending upon the organs involved. Symptoms can therefore be classified according to the affected organs.

  • Liver symptoms include jaundice characterized by yellowish discoloration of skin and mucous membranes, increased bleeding tendencies, abdominal distension, appearance of dilated small veins on the chest, bloody vomiting, increased pallor, cirrhosis of the liver and eventually liver failure. Few people of Wilson’s disease may suffer from hepatocellular cancer (liver cancer).
  • Neuropsychiatric symptoms occurs in about half of all patients suffering from Wilson’s disease. Common neurological symptoms may mimic those of Parkinson’s disease like rigidity, tremor, difficulty in maintaining steady gait, slurring of speech, drooling and abnormal involuntary movements of the limbs. Other neurological and psychiatric symptoms are convulsions, headache, impaired judgment, inability to make decisions and plan, anxiety and psychosis.
  • Other symptoms include deposition of brown to green pigments on the lens of the eyes although vision is not impaired, poor kidney function, weakening of bones leading to easy fracture following trivial trauma, weakening of the heart muscles leading to heart failure, abnormality in heart rhythm, infertility and increased risk of abortion.

Untreated Wilson’s disease may lead to a fatal rise in blood copper level. However, early diagnosis and adequate treatment enables the person to lead healthy and productive life.


Copper is one of the important micronutrients of the body required for number of important physiological functions of the body. Copper enters the body through the digestive tract and specific transporter proteins present on the cells of the digestive tract facilitates its transport. With rising concentration of the cellular copper it is released in the blood which ultimately reaches the hepatic cells. The excess copper is removed from the body through bile.

In patients with Wilson’s disease there is mutation in the genetic material that expresses the copper-transporting proteins leading to accumulation of excess copper in the body. This mutation is transferred from one generation to the next. The disease is a recessive type of genetic disease which means it requires inheriting two defective genes from each parent for the disease to manifest. If someone inherits one defective gene of Wilson’s disease, they will not manifest the disease but can transfer it to their children.


Treatment options for Wilson’s disease includes :

  • Drugs that remove excess copper from the body like penicillamine and trientine.
  • Drugs like zinc acetate prevents copper absorption from foods.
  • In severe cases liver transplantation is necessary.

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