Wilson's Disease is a disorder resulting from the body's inability to properly excrete copper, a vital metal present in many foods and essential for various bodily processes. Individuals with Wilson's Disease are unable to eliminate copper from the body through bile and experience copper accumulation and deposition in various body regions. The most common sites for copper deposition are the liver, brain, kidneys, and eyes.
Wilson's Disease is an inherited disorder that occurs when a child inherits two defective genes from both parents, affecting approximately 1 in 30,000 people.
Symptoms of Wilson's Disease typically appear after the age of 3-5 or before the age of 20. Onset may present as abnormal blood tests, jaundice, fatigue, or neurological signs (such as slow school performance, slow speech, tremors, or impaired coordination). In a small portion of children, acute liver failure can develop rapidly.
Wilson's Disease is diagnosed through blood tests, liver imaging, liver biopsy, and a 24-hour urine collection to evaluate copper levels. Eye examination and brain MRI scans are also useful for assessing copper levels in the body. Genetic testing can be valuable for screening family members of the affected child.
Without treatment, Wilson's Disease can be fatal. Fortunately, there is a treatment that helps the body remove excess copper and minimize copper absorption from food. Treatment is lifelong and requires careful monitoring, as some medications can have side effects. We recommend a low-copper diet, avoiding foods like mushrooms, chocolate, nuts, and liver. The long-term outcome of Wilson's Disease depends on the extent of damage to the liver and brain before treatment initiation. Treatment may prevent further damage and correct some of the existing damage, but certain aspects of the damage are irreversible. Patients with severe liver failure or those unresponsive to treatment may require a liver transplant.