Wilson Disease

What is Wilson Disease?

Wilson disease is a rare genetic condition that causes copper to build up in your liver, brain, and other organs. Your body needs small amounts of copper from food to stay healthy. But in Wilson disease, your liver cannot release extra copper into your bile like it should. Instead, copper accumulates to toxic levels over time.

This copper buildup damages organs, especially your liver and brain. Most people develop symptoms between ages 5 and 35. Without treatment, Wilson disease can cause liver failure, neurological problems, and life-threatening complications. The good news is that early detection and treatment can prevent serious damage.

Wilson disease is inherited in an autosomal recessive pattern. This means you need to inherit one changed gene from each parent to have the condition. About 1 in 30,000 people worldwide have Wilson disease. With proper treatment, most people with Wilson disease live normal, healthy lives.

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Symptoms

Fatigue and weakness that does not improve with rest
Yellowing of the skin and eyes, called jaundice
Swelling in the legs, ankles, or abdomen
Tremors or difficulty with coordination and movement
Trouble speaking, swallowing, or writing
Mood changes, depression, or personality shifts
Golden-brown rings around the iris of the eye, called Kayser-Fleischer rings
Abdominal pain or nausea
Easy bruising or bleeding
Dark urine or pale stools

Some people have no symptoms in the early stages of Wilson disease. Others may only have mild liver changes that go unnoticed for years. This is why regular blood testing is important if you have a family history of the condition.

Causes and risk factors

Wilson disease is caused by mutations in the ATP7B gene. This gene provides instructions for making a protein that moves copper out of your liver and into bile for elimination. When the gene does not work properly, copper stays trapped in your liver cells. Over months and years, this copper damages the liver and spills into the bloodstream. It then deposits in other organs like the brain, kidneys, and eyes.

You must inherit two copies of the changed ATP7B gene to develop Wilson disease, one from each parent. People with only one copy are carriers and typically do not have symptoms. Risk factors include having parents who are both carriers or having a sibling with Wilson disease. Certain populations, including people of Eastern European Jewish descent, have higher carrier rates. The condition affects males and females equally.

How it's diagnosed

Doctors diagnose Wilson disease using a combination of blood tests, urine tests, and eye exams. Blood tests check your liver enzymes like ALT and AST, which become elevated when copper damages liver cells. Bilirubin levels often rise due to both liver damage and red blood cell breakdown. Low ceruloplasmin, a copper-carrying protein in blood, is another important clue. Many patients also have low serum zinc levels because copper interferes with zinc absorption.

At Rite Aid, our flagship blood testing panel measures ALT, AST, total bilirubin, and serum zinc. These biomarkers help detect liver damage patterns consistent with Wilson disease. If your results suggest Wilson disease, your doctor will order additional specialized tests. These may include 24-hour urine copper collection and genetic testing. An eye exam can check for Kayser-Fleischer rings. Sometimes a liver biopsy is needed to measure copper concentration in liver tissue.

Treatment options

Chelating medications like penicillamine or trientine that bind copper and help your body eliminate it through urine
Zinc acetate supplements that block copper absorption from food in your intestines
Low-copper diet avoiding shellfish, liver, mushrooms, nuts, and chocolate
Regular blood tests every 3 to 6 months to monitor liver function and treatment effectiveness
Avoiding alcohol, which can further damage the liver
Physical therapy if you have movement or coordination problems
Mental health support for mood changes or cognitive symptoms
Liver transplant in severe cases of acute liver failure or advanced cirrhosis

Treatment for Wilson disease is lifelong. Missing doses of your medication can allow copper to build up again and cause rapid deterioration. Most people respond well to chelation therapy when started early. Your doctor will adjust your treatment based on your blood test results and symptoms. Family members should also get tested since Wilson disease runs in families.

Frequently asked questions

The first signs often include fatigue, loss of appetite, and abdominal pain. Some people develop jaundice or notice their urine turning dark. Others first experience tremors, trouble with coordination, or changes in mood and behavior. Many people have no obvious symptoms until the disease has progressed.

Wilson disease causes a unique pattern of liver damage due to copper buildup rather than alcohol, viruses, or fat. Blood tests often show a low AST to ALT ratio and disproportionately high bilirubin. The condition also affects the brain and eyes, which is rare in other liver diseases. Genetic testing confirms the ATP7B gene mutation.

Wilson disease cannot be cured, but it can be managed very effectively with lifelong treatment. Chelating medications and zinc supplements remove excess copper and prevent new buildup. Most people who start treatment early and take their medications consistently live normal, healthy lives. Stopping treatment can cause rapid disease progression.

Liver enzymes ALT and AST are often elevated in Wilson disease due to copper damage. Total bilirubin rises from both liver injury and red blood cell breakdown. Serum zinc is frequently low because copper interferes with zinc absorption. These tests suggest Wilson disease, but specialized ceruloplasmin and urine copper tests confirm the diagnosis.

Yes, Wilson disease is inherited in an autosomal recessive pattern. You must receive one changed ATP7B gene from each parent to develop the condition. If both parents are carriers, each child has a 25% chance of having Wilson disease. Siblings of affected individuals should get tested even without symptoms.

Avoid high-copper foods including shellfish, organ meats like liver, mushrooms, nuts, seeds, chocolate, and dried fruit. You should also skip multivitamins that contain copper. Drink water from copper pipes sparingly, especially first thing in the morning. A dietitian can help you plan balanced meals that are naturally low in copper.

Most doctors recommend blood tests every 3 to 6 months to monitor your liver function and treatment response. Your doctor will check ALT, AST, bilirubin, and other markers to ensure your medication is working. More frequent testing may be needed when starting new medications or if symptoms worsen.

Yes, copper buildup in the brain causes neurological symptoms in about 40% of people with Wilson disease. This can include tremors, muscle stiffness, trouble speaking or swallowing, and changes in personality or mood. Early treatment prevents most brain damage. Physical therapy and speech therapy can help manage existing symptoms.

Kayser-Fleischer rings are golden-brown or greenish rings around the edge of the cornea in your eye. They form when copper deposits in the eye tissue. These rings are present in most people with neurological Wilson disease symptoms. An eye doctor can see them during a slit-lamp examination.

Yes, people with Wilson disease can have healthy children. You should work closely with your doctor to manage your treatment during pregnancy. Some medications may need adjustment. Your children will be carriers of the gene, but they will only develop Wilson disease if your partner is also a carrier. Genetic counseling can help you understand the risks.