What is Wilson Disease?
Wilson disease is a genetic disorder resulting in excessive accumulation of copper in the body. Normally, the liver excretes almost all of the ingested copper except for the minute quantities required for maintaining healthy nerves, bones, and skin. People with Wilson disease are unable to excrete copper, therefore, over a period of time copper slowly accumulates in their bodies resulting in damage to various organs.
Who needs to be tested for Wilson Disease?
Any child or young adult with the following problems needs to be evaluated for Wilson Disease:
- Difficulty in speaking
- Change in handwriting
- Shaking or clumsiness of hand/body
- Difficulty in walking
- Dropping grades at school
- Aggressive/unruly behaviour
- Abnormal liver test report
- Unexplained jaundice (yellowing of eyes/skin)
- Repeated jaundice
- Back pain or deformity
- Joint pain and swelling
- Unexplained fracture
- Death in the family from severe liver failure or neurological problems
All brothers and sisters of a person with Wilson Disease need to be tested, even if they are normal.
How is Wilson Disease diagnosed?
Wilson Disease can be diagnosed based on a careful clinical evaluation by a neurologist or hepatologist (liver doctor) familiar with the disease and specialised tests like lab test, MRI and liver biopsy.