A diagnosis can bring many questions. We aim to provide clear information and support.
Wilson's disease is a rare inherited condition in which copper builds up in the liver, brain and other organs. With early diagnosis and the right treatment, most people with Wilson's disease go on to live full, healthy lives.
Wilson's 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's 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's disease is present at birth, these symptoms will not appear until the copper begins to accumulate.
Wilson's 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's disease thus affects each person differently; some of the main signs and symptoms are outlined below:
Scarring of the liver (cirrhosis) which prevents normal functioning. Liver failure can occur slowly over years (chronic), or suddenly (acute).
Tremors, speech difficulties, migraine headaches, insomnia and even seizures can occur.
Psychiatric symptoms might include depression and personality changes.
The kidneys and bones can also be affected in Wilson's Disease, potentially causing kidney stones or arthritis, respectively. Dark rings around the iris (colored part) of the eye or cataracts may occur in some people.
Please note, this is not a comprehensive list of symptoms associated with Wilson's Disease.
All patients with Wilson's disease should start lifelong medical therapy, combined with a low copper diet.
Wilson's 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 are able to manage their disease effectively and maintain acceptable levels of copper to live full, independent lives.
Taking Cuprior®, Cuvrior® or Ku Pei Ou® correctly is essential for it to work properly. Follow these important timing guidelines to ensure your body can absorb the medication effectively.
Swallow the tablets whole with a full glass of water. Tablets may be divided in half if needed to achieve the dose prescribed by your doctor.
Take on an empty stomach, at least one hour before meals or two hours after meals.
Take at least 1 hour apart from any other oral medications, and milk, to avoid interactions.
Take at least 2 hours apart from iron supplements and at least 1 hour apart from other mineral supplements (zinc, calcium, magnesium) or antacids.
How many doses do you take each day?
Once symptoms or copper levels have stabilised, treatment shifts to a maintenance phase. But staying on track is not always straightforward, and it matters enormously.
Most maintenance therapies for Wilson's disease must be taken in multiple doses on an empty stomach. These timing requirements can make daily adherence feel burdensome.
All Wilson's disease treatments are associated with side effects. If you are experiencing side effects that are affecting your ability to take medication as prescribed, speak with your specialist, as there may be alternatives or adjustments that help.
Certain foods are high in copper and can affect your disease management, particularly in the early stages of treatment. Shellfish, liver and nuts are among the foods to be mindful of. Knowing what to eat (and what to limit) is a practical part of living well with Wilson's disease.
Visit the Wilson's Disease Association for nutrition guidance
Patient associations and support groups are available for people living with Wilson's disease and their families. These organisations provide information and may offer opportunities to connect with others who have experience of the condition.
Leading organisation providing support, education and advocacy for Wilson's disease patients and families in North America
Visit WebsiteUK-based charity supporting patients and families affected by Wilson's disease, offering a caring peer network
Visit WebsiteGerman patient organisation dedicated to Wilson's disease awareness, support and connecting families across Germany
Visit WebsiteFrench association supporting Wilson's disease patients and promoting research and awareness across France
Visit WebsiteAfter a diagnosis, the path can feel uncertain. Here are some steps that tend to help patients and families find their footing.
Wilson's disease is best managed by a hepatologist or neurologist with experience of the condition. If you have not yet been referred to a specialist centre, ask your GP. A second opinion is always reasonable and often reassuring.
Treatment adherence is crucial. Stopping or reducing medication without medical guidance can cause copper to re-accumulate rapidly. If you are experiencing side effects, talk to your doctor - there are options.
Because Wilson's disease is inherited, siblings and children of a diagnosed patient should be offered testing. Early detection in a family member - even before symptoms appear - means treatment can begin before any damage occurs.
Patient organisations hold meetings, maintain online forums and can connect you with others who have navigated the same journey. Hearing from someone whose life has returned to normal after diagnosis can be one of the most powerful things.
Help advance research into Wilson's disease by contributing your de-identified health data to a secure global registry, or learn more about how the programme works.
Find out how the iWilson's Disease Registry works, who can participate, and how the data is used to improve patient outcomes.
Access the secure patient portal to register, submit data or find resources as a patient, caregiver or healthcare professional.