Wilson's disease
Einstein Health Glossary
ICD 10 - E83.0
What is Wilson's disease?
Wilson's disease is a rare genetic condition characterized by the body's inability to process copper. This leads to a buildup of the metal in various organs, causing physical and cognitive impairments.
Symptoms
Difficulty speaking and walking, delusions and confusion, tremors, abdominal swelling and pain are the most common early symptoms of Wilson's disease. They usually begin in adolescence or early adulthood. Without proper care, the disease can lead to brain and liver damage.
Causes
Wilson's disease is caused by a genetic mutation that hinders or prevents the liver from processing copper in the body.
Diagnosis
Liver biopsy, genetic testing, and blood and urine tests are the most common methods used to diagnose Wilson's disease.
Prevention
There is no known prevention for Wilson's disease.
Treatment
Treatment for Wilson's disease includes medications that stimulate the elimination of copper from the body through the intestines and kidneys instead of the liver. The doctor also evaluates the need to treat possible complications, and a liver transplant may be necessary.
Duration
Wilson's disease is a chronic condition that stays with the person for life.
Is it contagious?
Wilson's disease is not contagious.
Can it be contracted more than once?
Wilson's disease is diagnosed only once, as it has no cure.