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.

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
• Depression
• Aggressive/unruly behaviour
• Hypersexuality
• Abnormal liver test report
• Unexplained jaundice (yellowing of eyes/skin)
• Repeated jaundice
• Anemia
• 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.

Wilson disease can be diagnosed based on a careful clinical evaluation by a neurologist or hepatologist (liver doctor) familiar with the disease and specialized tests.

YES, it is treatable.With timely diagnosis and treatment people with Wilson disease can lead a normal life. Children return to normal education and excel.Even people with severe disability improve and resume school/work.

Treatment involves avoiding food rich in copper and taking drugs to eliminate excess copper (decoppering drugs).People with symptoms as well as those who do not have any symptoms need treatment.Treatment is lifelong. It is essential that treatment be tailored to an individual patient.

Complimenting the expert clinicians is the comprehensive care we offer during diagnosis of the patients for their complete rehabilitation. See the Wilson Clinic at Kokilaben Hospital.