Wilson Disease

What is Wilson Disease?

Wilson disease is a rare, inherited genetic disorder that prevents the body from processing copper properly.

Copper is a mineral that your body needs in very small amounts to stay healthy. It plays a key role in the development of healthy nerves, bones, collagen, and the skin pigment melanin.

In a healthy body, the liver filters out excess copper and releases it into bile so it can be eliminated. However, in people with Wilson disease, the liver cannot release copper into bile.

As a result, copper accumulates to toxic levels, first in the liver, and eventually in other organs such as the brain and eyes. Without treatment, this buildup can cause life-threatening organ damage.

Causes and Genetic Risk

Wilson disease is caused by a mutation in the ATP7B gene. It is an autosomal recessive disorder, meaning that to develop the disease, you must inherit one abnormal gene from each parent.

Family history is the most significant risk factor for Wilson disease, as it is a genetic condition. If a parent or sibling has the disease, it’s important to discuss genetic testing with your doctor.

Although the condition is present from birth, symptoms typically appear only after copper accumulates to a harmful level.

Symptoms of Wilson Disease

Symptoms can vary widely depending on which organs are affected by the copper buildup.

Liver-Related Symptoms:
Because copper accumulates in the liver first, many patients present with signs of liver disease, including:

• Jaundice: Yellowing of the skin and whites of the eyes.
• Edema: Swelling in the legs or feet.
• Fatigue. 
• Abdominal pain.
• Easy bruising.

Neurological and Mental Health Symptoms:
As copper deposits in the brain, it can affect the nervous system, causing:

• Tremors: Uncontrolled shaking or trembling.
• Difficulty speaking or swallowing.
• Clumsiness or loss of coordination.
• Personality Changes: Mood swings, depression, or anxiety.

Ocular Symptoms:

• Kayser-Fleischer Rings: A distinctive sign of Wilson disease where a rusty-brown ring forms around the cornea of the eye. This is caused by copper deposits and is best seen during an eye exam.

Diagnosing Wilson Disease

Wilson disease is frequently misdiagnosed because its symptoms mimic those of other liver or neurological disorders, highlighting the need for careful diagnosis.

Treating Wilson Disease

Wilson disease is treatable, and the outlook is excellent for patients who start treatment early and stick to their plan. Treatment is lifelong and focuses on removing excess copper and preventing it from building up again.