All you need to know about Wilson’ disease!

Copper is very important for our body’s everyday nutrients needs. It plays a key role in developing healthy bones, nerves, collagen and the skin pigment called melanin. Copper from our food is absorbed and the excessive copper is excreted through a substance produced by our liver called the Bile juice. But sometimes the liver fails to eliminate the excessive copper from our body and the copper accumulates giving rise to a possibly life-threatening condition called Wilson’s Disease. It is a rare disorder which we inherit from our ancestors. Wilson’s disease causes copper to accumulate in a person’s liver, brain, and other vital organs of the body. This disease is also known as hepatolenticular degeneration.


Named after the American-born British neurologist, Dr Samuel Wilson who, in 1912, composed his doctoral thesis on the pathologic findings of “lenticular degeneration” in the brain associated with cirrhosis of the liver. Here’s the tricky part - although Wilson’s disease is inherited from the parents, it does have a few variations. Mutations of a gene called ATP7B causes Wilson’s disease. These genes are inherited from our parents but a child must inherit two ATP7B genes with mutation, one from each parent, to have Wilson’s disease. If a child inherits one ATP7B gene with a mutation from one parent and another ATP7B gene without a mutation from another parent, they won’t have Wilson’s disease but they will carry it. If this child grows up and has a baby with another person who doesn’t have Wilson’s disease but does carry the mutated ATP7B gene, then that child will have Wilson’s disease.


Wilson’s disease can be present at the time of birth but the symptoms won’t appear till the copper starts building up in the brain, liver or other organs. That Is why Wilson’s disease is mostly diagnosed at as early as 5 years of age.

- Dark urine and light colour stool

- Pain over the liver and upper abdomen

- Poor appetite

- Yellowish tint to the whites of an eye and skin

- Uncontrolled movements

- Stiffening of muscles


If diagnosed at an early stage, people will Wilson’s disease can be treated properly and often go on to live a happy and comfortable life. Doctors recommend medications such as penicillamine, trientine, and zinc acetate, etc. These medications bind copper and force it to release in the bloodstream which is then filtered in the kidneys and the copper is carried out with the urine.

If you have signs and symptoms that worry you moreover if you have a family history of Wilson’s disease then you should visit a doctor immediately.

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