Wilson’s disease is a genetic disorder that causes copper to build up in the liver, brain, and other organs. Normally, your liver filters excess copper and sends it out through bile into your digestive tract for elimination. In Wilson’s disease, a faulty gene disrupts this process, so copper accumulates to toxic levels and gradually damages tissue. It affects roughly 1 in 30,000 people, though newer genetic screening from the United Kingdom suggests the true prevalence could be as high as 1 in 7,000.
How Copper Builds Up
The root cause is a mutation in a gene called ATP7B, which provides instructions for a protein that transports copper out of liver cells. When this protein malfunctions, the liver can’t package copper into bile or attach it to a carrier protein in the blood. Copper stays trapped in liver cells, and as it accumulates, it spills into the bloodstream and deposits in the brain, eyes, kidneys, and other tissues.
Wilson’s disease is autosomal recessive, meaning you need to inherit a defective copy of the gene from both parents. If you inherit only one copy, you’re a carrier but won’t develop symptoms. Roughly 1 in 90 people carries a single abnormal copy of the gene. More than 700 different mutations in ATP7B have been identified, which partly explains why the disease looks so different from person to person.
Liver Symptoms
Because the liver is the first organ to accumulate copper, liver problems are often the earliest sign. These can range from mild, with fatigue and nausea, to severe, with yellowing of the skin (jaundice), swelling in the legs, and an enlarged liver or spleen. The jaundice is often driven by the simultaneous destruction of red blood cells, a type of anemia that can accompany the disease.
If copper damage goes undetected, it can progress to cirrhosis and its complications: fluid buildup in the abdomen, internal bleeding from swollen veins in the esophagus, and liver failure. In some cases, Wilson’s disease first shows up as sudden, severe liver failure in someone who had no previous signs of liver trouble. This acute presentation is a medical emergency.
Brain and Psychiatric Symptoms
Between 30% and 50% of people with Wilson’s disease develop neurological or psychiatric symptoms, sometimes before any liver problems are obvious. The copper deposits in brain regions that control movement, producing tremors (often worse on one side of the body), difficulty speaking clearly, trouble with coordination and balance, muscle stiffness, and slowed or clumsy movements. Speech may become quiet or slurred.
Psychiatric changes can be equally disruptive. Personality shifts, irritability, aggression, anxiety, depression, and in some cases visual or auditory hallucinations may occur. These symptoms are sometimes mistaken for a primary psychiatric illness, delaying the correct diagnosis. When neurological or psychiatric involvement is present, prognosis tends to be worse, making early identification critical.
Kayser-Fleischer Rings
One of the most distinctive signs of Wilson’s disease is a golden-brown ring around the edge of the cornea, called a Kayser-Fleischer ring. It’s caused by copper depositing in the eye. Nearly 95% of patients with neurological symptoms have these rings, but they’re less consistently present in people whose disease affects only the liver. A Kayser-Fleischer ring is usually visible only with a special eye exam using a slit lamp, not with the naked eye, especially in people with dark-colored irises.
How It’s Diagnosed
No single test confirms Wilson’s disease on its own. Doctors typically combine several findings. A key blood test measures ceruloplasmin, the protein that normally carries copper through the bloodstream. In Wilson’s disease, ceruloplasmin levels are usually low because the liver can’t attach copper to it properly. A 24-hour urine collection showing elevated copper excretion supports the diagnosis, and a liver biopsy measuring the copper content of liver tissue can be definitive. Genetic testing for ATP7B mutations is also available and especially useful for screening siblings of a diagnosed patient.
Treatment With Chelation and Zinc
Wilson’s disease is treatable, and with lifelong therapy most people can prevent further organ damage and improve existing symptoms. Treatment has two phases: an initial phase to remove the excess copper already stored in tissues, and a maintenance phase to keep copper from building back up.
The initial phase typically uses chelating agents, medications that bind to copper in the blood and tissues so it can be excreted through urine. Two chelating drugs are available in the United States. Both work by the same basic principle of grabbing onto copper and pulling it out of the body, though they differ in side effect profiles. Treatment usually begins as soon as the diagnosis is made, regardless of whether symptoms are present.
For long-term maintenance, zinc salts offer a different strategy. Zinc stimulates cells lining the intestine to produce a protein that traps copper from food and from digestive secretions, preventing it from entering the bloodstream. The bound copper is shed naturally when intestinal cells turn over and is excreted in stool. Zinc also triggers a similar process inside liver cells, gradually reducing the amount of unbound copper circulating in the body. It needs to be taken in divided doses away from meals to work effectively.
Treatment is lifelong. Stopping medication, even after years of feeling well, allows copper to accumulate again and can trigger sudden liver failure.
Dietary Changes
Limiting high-copper foods is an important complement to medication, especially during the first year of treatment when the body’s copper burden is being reduced. The foods highest in copper include:
- Organ meats: beef liver contains about 12,400 mcg of copper per 3-ounce serving, making it by far the richest source
- Shellfish: oysters (4,850 mcg per serving) and crab (624 mcg) are particularly high
- Nuts and seeds: cashews, sunflower seeds, and sesame seeds all contain 150 to 630 mcg per serving
- Chocolate: unsweetened baking chocolate has about 938 mcg per ounce, and dark chocolate around 501 mcg
- Mushrooms: shiitake mushrooms pack about 650 mcg per half cup
- Whole grains and wheat bran cereals
You don’t need to eliminate copper entirely, since it’s an essential nutrient. The goal is to avoid the most concentrated sources while medication handles the rest. Most people with Wilson’s disease settle into a sustainable eating pattern after the first year, when their copper levels have dropped to safer ranges.
When a Liver Transplant Is Needed
Liver transplantation is reserved for two situations: acute liver failure that doesn’t respond to medical treatment, and chronic liver disease that has progressed to advanced cirrhosis despite chelation therapy. Because the genetic defect lives in the liver cells, a transplanted liver produces normal copper-transporting proteins, effectively curing the metabolic problem. Transplantation for neurological symptoms alone remains controversial and is considered only when neurological decline continues despite appropriate medical therapy.
Outcomes after transplant are strong. In children transplanted for chronic liver disease, both patient and graft survival reached 100% at one and five years in one major study. For adults with chronic liver disease, five-year patient survival was about 90%. Even in the more challenging scenario of acute liver failure, one-year survival exceeded 90% in both children and adults. Data from the SPLIT pediatric registry showed 96% patient survival at one year and 91% at five years.
Screening Family Members
Because Wilson’s disease is inherited recessively, siblings of a diagnosed patient have a 1 in 4 chance of also having the condition. First-degree relatives should be screened with blood tests and, when possible, genetic testing for the specific mutations found in the affected family member. Catching the disease before symptoms appear allows treatment to start early, often preventing organ damage entirely. Most cases are diagnosed between ages 5 and 35, but the condition has been identified in children as young as 2 and in adults over 70.