Wilson's disease is a rare genetic disorder that causes excess copper to build up in the body, particularly in the liver, brain, and other vital organs. Copper is an essential mineral needed for various bodily functions, but in people with Wilson's disease, the body cannot properly get rid of excess copper. Over time, this buildup can lead to severe damage to the liver, brain, kidneys, and eyes.

Wilson’s disease is caused by a genetic mutation in the ATP7B gene, which is responsible for producing a protein that helps remove excess copper from the body. When this gene is defective, copper cannot be properly excreted and accumulates in tissues and organs.

Since Wilson's disease is inherited in an autosomal recessive pattern, a person must inherit two copies of the defective gene—one from each parent—in order to develop the disease. If a person inherits only one defective gene, they will be a carrier but will not typically show symptoms of the disease.

The symptoms of Wilson's disease can vary greatly depending on the age of onset and the organs affected. They can develop gradually and may include:

Liver Symptoms:

• Jaundice (yellowing of the skin and eyes)
• Fatigue or weakness
• Abdominal pain (often in the upper right side)
• Swelling in the abdomen or legs (due to fluid retention)
• Liver failure or cirrhosis in more advanced cases
• Hepatitis (inflammation of the liver)

Neurological Symptoms:

• Tremors or shaking
• Difficulty with coordination or balance (ataxia)
• Slurred speech
• Involuntary movements (dystonia)
• Changes in behavior or personality, such as irritability, depression, or mood swings
• Cognitive impairment or memory problems

Psychiatric Symptoms:

• Depression or anxiety
• Personality changes, mood swings, or emotional instability
• Psychosis in some cases

Eye Symptoms:

• Kayser-Fleischer rings: copper deposits appearing as brown or greenish rings around the cornea, detectable during an eye exam.

Blood and Urine Tests:

• Serum ceruloplasmin levels (usually low)
• 24-hour urine copper test
• Liver function tests

• Kayser-Fleischer Rings: Detected via eye exam with a slit lamp.
• Liver Biopsy: Measures copper levels and assesses liver damage.
• Genetic Testing: DNA testing can identify ATP7B mutations and confirm diagnosis.

• Chelating Agents: Penicillamine and trientine bind to copper and help remove it through urine. Used long-term.
• Zinc: Prevents absorption of copper from food and intestines, often used for maintenance therapy.
• Liver Transplant: Necessary in severe liver damage or liver failure cases.
• Dietary Considerations: Avoid foods high in copper (shellfish, liver, nuts, chocolate, mushrooms).

• Regular Monitoring: Periodic blood and urine tests to ensure copper levels are controlled and liver function is stable.
• Adherence to Medication: Take prescribed medications consistently to prevent copper buildup and organ damage.
• Psychiatric and Neurological Support: Assistance from neurologists or psychiatrists to manage cognitive, mood, and motor symptoms.
• Liver Health: Regular assessment to prevent cirrhosis or liver failure, with early intervention as needed.

With early diagnosis and proper treatment, individuals with Wilson’s disease can live long, healthy lives. Untreated, however, the disease can cause severe liver damage, neurological impairment, and psychiatric problems.

Wilson’s disease is a rare but treatable genetic disorder leading to excess copper buildup. Early diagnosis and treatment are critical to prevent long-term organ damage. With proper management, most individuals can lead normal lives.