Wilson Disease

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• Diagnosis and Tests

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• Genetics

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Summary

Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. You need a small amount of copper from food to stay healthy. Too much copper is poisonous.

Normally, your liver releases extra copper into bile, a digestive fluid. With Wilson disease, the copper builds up in your liver, and it releases the copper directly into your bloodstream. This can cause damage to your brain, kidneys, and eyes.

Wilson disease is present at birth, but symptoms usually start between ages 5 and 35. It first attacks the liver, the central nervous system or both. The most characteristic sign is a rusty brown ring around the cornea of the eye. A physical exam and laboratory tests can diagnose it.

Treatment is with drugs to remove the extra copper from your body. You need to take medicine and follow a low-copper diet for the rest of your life. Don't eat shellfish or liver, as these foods may contain high levels of copper. At the beginning of treatment, you'll also need to avoid chocolate, mushrooms, and nuts. Have your drinking water checked for copper content and don't take multivitamins that contain copper.

With early detection and proper treatment, you can enjoy good health.

NIH: National Institute of Diabetes and Digestive and Kidney Diseases

Start Here

• Wilson Disease (National Institute of Diabetes and Digestive and Kidney Diseases)
• Wilson Disease: Frequently Asked Questions (Wilson Disease Association)
• Wilson's Disease (Mayo Foundation for Medical Education and Research) Also in Spanish

Diagnosis and Tests

• Ceruloplasmin Test (National Library of Medicine) Also in Spanish
• How Is Wilson Disease Diagnosed? (Wilson Disease Association)
• Kayser-Fleischer Rings (Wilson Disease Association)

Living With

• Diet and Nutrition: Copper Conscious Eating (Wilson Disease Association)
• Monitoring Your Treatment (Wilson Disease Association)

Genetics

• How Is Wilson Disease Inherited? (Wilson Disease Association)
• Wilson disease: MedlinePlus Genetics (National Library of Medicine)

Clinical Trials

• ClinicalTrials.gov: Hepatolenticular Degeneration (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

• Article: Psychiatric Symptoms in Wilson's Disease-Consequence of ATP7B Gene Mutations or Just...
• Article: Deep brain stimulation for severe dystonia associated with Wilson disease: A...
• Article: Trientine Tetrahydrochloride, From Bench to Bedside: A Narrative Review.
• Wilson Disease -- see more articles

Find an Expert

• National Institute of Diabetes and Digestive and Kidney Diseases
• National Institute of Neurological Disorders and Stroke Also in Spanish

Patient Handouts

• 24-hour urine copper test (Medical Encyclopedia) Also in Spanish
• Ceruloplasmin blood test (Medical Encyclopedia) Also in Spanish
• Wilson disease (Medical Encyclopedia) Also in Spanish