Wilson's Disease

Wilson disease is a rare genetic disorder that causes excessive accumulation of copper in the body. Normally, copper is excreted through bile, but in people with Wilson’s disease, this process is impaired, leading to toxic buildup primarily in the liver, brain, and eyes. Without early diagnosis and proper treatment, the condition can be life-threatening—but with lifelong care, most patients can live normal, healthy lives.

Wilson disease does not have multiple types but can be classified based on its predominant clinical presentation:

• Hepatic form: Symptoms primarily involve the liver (e.g., hepatitis, cirrhosis, liver failure) and occur in approximately 18% to 84% of patients.
• Neurological form: Symptoms include tremors, poor coordination, or behavioral changes and occur in approximately 18% to 73% of patients.

The type varies depending on the age at onset and disease progression.

Symptoms vary depending on the organ affected and may appear gradually:

• Liver-related: fatigue, jaundice, abdominal swelling, easy bruising
• Neurological: tremors, muscle stiffness or rigidity, difficulty with speech, swallowing, or coordination
• Psychiatric: mood swings, depression or anxiety, personality changes
• Ophthalmologic: Kayser-Fleischer rings: brownish rings around the cornea, visible on eye exam

Symptoms typically emerge between ages 5 and 55.

Most symptomatic pediatric patients present with liver disease alone, whereas symptomatic adults have liver disease with or without neurologic symptoms.

Wilson’s disease is caused by mutations in the ATP7B gene, inherited in an autosomal recessive pattern. This gene is responsible for regulating copper transport and excretion.

• Family history of Wilson’s disease
• Both parents being carriers of the ATP7B mutation

Each child of two carriers has a 25% chance of developing the condition.

There is no known way to prevent Wilson’s disease in someone who carries two defective genes. 

However, early genetic screening and family testing can help with:

• Early diagnosis in asymptomatic siblings or relatives
• Starting treatment before symptoms appear

For diagnosed patients:

• Avoiding copper-rich foods
• Adhering to lifelong medication can prevent complications