Wilson disease is a rare condition inherited from both parents. It prevents the body from removing excess copper, which is absorbed from the diet by the digestive system. This extra copper is stored in different places throughout the body, especially the liver, brain, eyes, and kidneys.1 

Excess copper is poisonous, causing damage and abnormal breakdown of tissues and organs.1 If Wilson disease is left untreated, it can cause irreparable damage that can quickly become fatal. It is important to obtain an accurate diagnosis so that appropriate treatment can be administered to slow the progression of the condition.2

Family History and Genetic Testing

Parents who both have an abnormal copy of the ATP7B gene, which causes Wilson disease, have a 25% chance of passing the condition to each child. If a child is diagnosed with Wilson disease, it is important to test all first-degree relatives, who might also have the same condition. If a person is a carrier of the abnormal gene copy, it may be beneficial to schedule an appointment with a genetic counselor prior to starting a family to obtain information on the likelihood of having a child with the condition and to better prepare for this outcome. Genetic tests can also confirm the presence of Wilson disease in a baby before birth.3

Disease Onset

Because it is an inherited condition, Wilson disease is present at birth; however, symptoms can appear at any age, usually between the ages of 5 and 35 years.1,2 

Symptoms

Wilson disease has a wide variety of symptoms depending on which organs and tissues are most impacted by the accumulation of copper. Normally, the first organ affected is the liver because this is where dietary copper goes after digestion to be processed by the body. 

One symptom that points to problems with the liver is jaundice of the skin and the sclera. This occurs due to increased levels of bilirubin—a yellow pigment caused by the breakdown of red blood cells. In addition to liver problems, extra copper stored in red blood cells may cause them to rupture prematurely. This results in hemolytic anemia, causing symptoms of fatigue and difficulty tolerating intense physical activity.3,4 

Another symptom of liver involvement is ascites. This can happen when liver tissues become scarred and hardened. Scarring of the liver (cirrhosis) increases pressure within the blood vessels of the liver (portal hypertension). Portal hypertension makes it more difficult for blood to flow through the liver, causing fluid buildup in the abdomen. Sometimes, fluid can collect in other areas of the body such as the legs, which might become swollen.4,5 

The brain can also be affected by excess copper accumulation, which can cause damage to the nerves that control body movements. Patients may have difficulty moving (muscle stiffness), move too much, or have very little control over movements (dystonia). The arms and legs might move involuntarily (tremor) at rest, in certain positions or postures, or when trying to move. Coordination of movement, normal gait, speaking, and swallowing may become more difficult. Facial expressions may become less pronounced, and handwriting may progressively worsen.3,4 

Wilson disease can also affect mood, cognition, and behavior. It may cause patients to become depressed, anxious, impulsive, uninhibited, and/or more likely to harm themselves, making it important to seek the best treatment options available.3

Kayser-Fleischer rings, another sign of Wilson disease, develop when copper builds up in the corneas, forming a brownish gold-colored ring around each iris. This ring is often visible to the naked eye; however, those that are not as visible may need confirmation after examination by an ophthalmologist.3

Read more about Wilson disease signs and symptoms

Treatment

All patients with Wilson disease must undergo treatment to help remove excess copper from the body.1,2 Two main types of medications are used to treat Wilson disease. Chelators, such as penicillamine and trientine, bind and remove excess copper in the body through the urine. Zinc prevents the digestive system from absorbing copper from food. Both treatments work to prevent further accumulation of copper in the body.3 

While most people with Wilson disease respond well to long-term treatment and management, 5% to 10% of patients need liver transplantations. Liver transplantation is required for patients with liver failure who can no longer be helped by medications.6 

Research trials to develop gene therapies for patients with Wilson disease are ongoing.7 

Other healthcare providers may help to manage symptoms caused by Wilson disease. Physical, occupational, and speech therapists can help strengthen the body and improve functioning and coordination to make it easier for patients to perform daily activities and tasks such as walking, swallowing, speaking, and understanding things. Psychiatrists can help with feelings of depression, mood swings, or any symptoms that affect thoughts and feelings.8

It is important that patients who are pregnant or breastfeeding continue treatment for Wilson disease. Their doctors can determine which medications are the safest to use during pregnancy and breastfeeding to keep the baby safe and the patient healthy.9

Read more about Willson disease treatments

Practical Tips

Many guidelines recommend consuming a low-copper diet for life. Patients should avoid eating foods high in copper, such as shellfish and liver. At the beginning of treatment with certain medications, doctors may also ask patients to avoid eating nuts, mushrooms, and chocolate. Multivitamins with copper supplementation should be avoided. It is recommended that patients have their drinking water checked to see if it contains high amounts of copper.1

It is recommended that patients schedule routine appointments with their doctor to monitor their condition. Doctors will ensure that patients are taking their medications and following medical recommendations such as the low-copper diet. They will also ask about any side effects of the medications. They will obtain blood and urine samples to evaluate copper levels and ensure that the liver is functioning well. They may also request additional tests such as imaging of the liver and brain to make sure no abnormalities are developing secondary to Wilson disease.10

It is possible to overtreat Wilson disease and cause symptomatic copper deficiencies. This is one reason why it is important to monitor how treatment affects patients. It is also important that patients understand that a lack of adherence to medical recommendations can be fatal.10

When patients are first diagnosed with Wilson disease, it is recommended that they follow up with their doctor every 3 months for laboratory testing and to ensure that their treatments are working. Once a patient’s condition has stabilized, it is recommended that they return every 6 months to 1 year or as needed for monitoring.10

Support Groups and Advocacy Organizations 

It is important for patients with Wilson disease and their caregivers to join patient support groups to get useful information and advice from others going through similar experiences. Being affected by a rare condition makes it even more important to seek support from others facing the same challenges.11

Several nonprofit organizations advocate for patients with Wilson disease and their families, such as the Wilson Disease Association and the American Liver Foundation. Patients who become active members of these organizations may find out about clinical trials and gain helpful information to help them achieve or maintain a good quality of life. 

References

  1. Wilson disease. MedlinePlus. Updated April 6, 2016. Accessed September 16, 2022.
  2. Living with Wilson disease. Wilson Disease Association. Accessed September 16, 2022.
  3. Shah I. Wilson’s disease: patient education. Pediatric Oncall Child Health Care. April 2, 2001. Updated August 1, 2015. Accessed September 16, 2022.
  4. Symptoms & causes of Wilson disease. National Institute of Diabetes and Digestive and Kidney Diseases. Accessed September 16, 2022.
  5. What is ascites? Penn Medicine. Accessed September 16, 2022.
  6. Liver transplantation for Wilson disease. Wilson Disease Association. Accessed September 16, 2022.
  7. Genetic therapies. Wilson Disease Association. Accessed September 16, 2022.
  8. Other therapies. Wilson Disease Association. Accessed September 16, 2022.
  9. WD treatment during pregnancy and breastfeeding. Wilson Disease Association. Accessed September 16, 2022.
  10. Monitoring your treatment. Wilson Disease Association. Accessed September 16, 2022.
  11. Graper ML, Schilsky ML. Patient support groups in the management of Wilson disease. Handb Clin Neurol. 2017;142:231-240. doi:10.1016/B978-0-444-63625-6.00020-3

Reviewed by Kyle Habet, MD, on 9/28/2022.

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