Wilson Disease

It is caused by changes (mutations) in a gene called ATP7B, which helps remove copper. It is inherited in an autosomal recessive way: a child is affected only if both parents pass on a faulty copy. Parents who each carry one copy are usually healthy. Brothers and sisters of a patient have a chance of being affected and should be tested. It is not caused by diet or by copper in drinking water.

Wilson disease is rare overall. It can be more frequent in communities where marriage between relatives is common, because both parents must carry the gene for a child to be affected. Because it is rare and its signs vary, diagnosis is sometimes delayed.

Diagnosis combines several tests, since no single test is perfect: blood tests for ceruloplasmin (a copper-carrying protein, usually low), copper in a 24-hour urine collection, and an eye examination with a slit lamp for the ring. Genetic testing can confirm the diagnosis and is very useful for testing relatives. A liver biopsy to measure copper may be needed in some cases, and brain MRI if there are neurological symptoms.

Lifelong treatment and regular checks are essential.

• Take your medicine every day exactly as prescribed, and never stop it on your own

• Keep a supply so you never run out, including when travelling or during Hajj and Umrah

• Attend regular blood and urine monitoring

• Have brothers, sisters and sometimes children tested

• Avoid alcohol

Diet is a support to medicines, not a replacement. Your doctor or dietitian will guide you.

• Limit foods very rich in copper, especially in the early period of treatment: shellfish, liver and organ meats, nuts, chocolate and mushrooms

• Check your drinking water and cookware if your doctor asks you to

• Take zinc or chelating medicines at the times your doctor recommends relative to meals

• Ask before using vitamin or mineral supplements

Medicines either help the body remove copper (chelating agents) or block its absorption from food (zinc). Your specialist chooses and adjusts them.

• Chelating medicines such as penicillamine or trientine remove copper through the urine

• Zinc salts reduce copper absorption and are often used for maintenance or in people without symptoms

• Side effects need monitoring; tell your doctor about rashes, fever or unusual symptoms

• Treatment continues in pregnancy under specialist guidance; do not stop it yourself

Most people need no procedure, but some are relevant.

• Liver biopsy in uncertain cases

• Endoscopy and ultrasound if cirrhosis is present

• Liver transplant for acute liver failure or advanced disease that does not respond to medicines

With treatment started early and taken regularly for life, most people live a normal life. Treatment can prevent and often improve liver and brain damage, though improvement can be slow. Left untreated, Wilson disease can be fatal. Missing treatment is the most common cause of relapse.

• How was my diagnosis confirmed, and does it need genetic testing?

• Which medicine is best for me and what side effects should I watch for?

• Which foods should I limit?

• Should my relatives be tested?

• What should I do if I plan pregnancy or travel?

This guide comes from the Saudi Gastroenterology Association (SGA) patient library, prepared by the Approved for publication by SGA; individual clinician review is ongoing. Last reviewed: 2026-04-24. It is for education and does not replace your doctor's advice.