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Wilson disease is a rare genetic disorder that impairs the body’s ability to remove copper. Copper, an essential mineral, is naturally occurring in many foods and contributes to the proper performance of metabolic processes throughout the body. A normal diet contains more copper than the body needs, and the majority of excess dietary copper is excreted in the bile via the liver, or through other gastrointestinal secretions.

Individuals affected by Wilson disease are unable to eliminate this excess copper properly; without appropriate treatment, copper builds up in the tissues and organs, including the liver and brain, resulting in a range of potentially severe liver, neurological and psychiatric symptoms. Though Wilson disease is present at birth, these symptoms will not appear until the copper begins to accumulate.

Wilson disease is caused by a mutation in the ATP7B gene on chromosome 13. This mutation prevents liver cells from being able to process and remove excess copper into the bile. The excess copper accumulates in the liver, followed by other body organs, gradually damaging them.

Copper deposits may accumulate across different parts of the body, including the liver, brain, eyes, and other organs and can lead to a wide range of signs and symptoms. Wilson disease thus affects each person differently; some of the main signs and symptoms are outlined below:

All patients with a confirmed diagnosis of Wilson disease should be started on lifelong medical therapy combined initially with a low copper diet. Wilson disease medications need to be taken daily, and dosing should be administered consistently and spaced out between meals to achieve full efficacy. Failure to comply with lifelong therapy can lead to recurrent or new symptoms and eventually disease progression.

Medications work by either blocking copper absorption (zinc therapy) or by binding to free copper (chelating agents such as trientine). Patients who adhere to their prescribed regime and take their medicines regularly are able to manage their disease effectively and maintain acceptable levels of copper to live full, independent lives.