Understanding Wilson's disease: Causes, Symptoms, and Management

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Wilson's disease

by Alike Medical Team ∙ Updated on June 13, 2023

General

Wilson's disease is a rare inherited disorder that causes the accumulation of copper in the body, especially in the liver, brain, and eyes, perhaps to a life-threatening level. Thus, the features of the disease include a combination of liver disease and neurological and psychiatric problems. Early diagnosis can stop the progression of the disease and allow people to live a normal life. The disease mainly appears between the ages of 5 and 35. Wilson's disease is autosomal recessive, meaning that both parents of an individual with the disease carry one copy of the mutated gene.

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Signs & symptoms

Liver disease is usually the primary characteristic of Wilson disease. Signs and symptoms of liver disease include yellowing of the skin or whites of the eyes (jaundice), fatigue, loss of appetite, and abdominal swelling. Nervous system or psychiatric problems include clumsiness, tremors, difficulty walking, speech problems, impaired thinking ability, depression, anxiety, and mood swings. Copper can deposits in the cornea (the front surface of the eye), and form a green-to-brownish ring surrounding the colored part of the eye, called the Kayser-Fleischer ring. Abnormalities in eye movements, such as a restricted ability to gaze upwards, may also occur.

Diagnosis

Diagnosing Wilson's disease can be challenging because the symptoms are similar to other liver diseases. The diagnosis is based on symptoms, family history, and physical examination. The doctor also used tests and procedures to confirm the diagnosis: Blood tests can monitor liver function and check the level of copper in the blood. A urine test can measure the amount of copper excreted in the urine. An ophthalmologist's eye examination checks for Kayser-Fleischer rings, which are caused by excess copper in the eyes. In addition, a liver biopsy can check the tissue for excess copper. For ensuring the diagnosis, genetic testing can identify the genetic mutations that cause Wilson's disease.

Treatment

The treatment for Wilson's disease is for life, including lifestyle and medications. Lifestyle-changing is limiting the amount of copper you consume in the diet. The medications, such as penicillamine, trientine, and zinc acetate, remove the extra copper from the organs. If the liver damage is severe, you might need a liver transplant.

Note

☝ We provide information on prescription and over-the-counter medicines, diagnosis, procedures and lab tests. This material is provided for educational purposes only and is not medical advice, diagnosis or treatment.

National Institutes of Health ∙ World Health Organization ∙ MedlinePluse ∙ Centers for Disease Control and Prevention

☝ All information has been reviewed by certified physicians from Alike

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