Wilson Disease is a rare genetic disorder that causes copper to accumulate in the liver, brain and other vital organs. It affects approximately 1 in 30,000 people worldwide. Most people with Wilson disease are diagnosed between the ages of 5 and 35, but it can affect younger and older people, as well.

Copper is a trace metal which is present in many foods. Everyone needs small amounts of copper to remain healthy. Normally the body can get rid of any excess copper that is not required by the body. However in patients with Wilson Disease, due to their genetic defect, the body is not able to get rid of this excess copper and so it builds up in the body. Too much copper in the liver is harmful and leads to liver damage causing jaundice, swelling of feet and abdomen, anaemia, etc. Similarly excess copper in brain causes damage to brain tissue leading to slowness of movement, drooling of saliva, change in speech, difficulty in speaking, swallowing, writing, walking, doing school work, having depression, anxiety or mood swings.

As the genetic defect is present at birth, copper deposition in the body starts very early in life. However it takes a few years for copper to build up to a level where it causes significant damage and the patient starts getting problems.

Besides primarily affecting the liver and brain, Wilson Disease can also cause problems in the kidneys, bones, eyes and occasionally other organs in the body. Being a genetic disease, there could be another family member who has been diagnosed to have Wilson Disease or have signs and symptoms suggestive of it.

It is important to diagnose Wilson disease as early as possible so that treatment can be started before there is permanent brain damage and serious liver disease. Wilson disease is diagnosed based upon a detailed patient history, thorough medical evaluation, and specialised laboratory tests. Blood, urine and eye tests are usually required to make a diagnosis. Some patients require additional tests like liver biopsy, MRI brain, etc. If diagnosed early, Wilson Disease can be well treated with medications that remove copper from the body. These medications however, need to be taken life-long. If the liver disease is advanced, then a liver transplantation is required.