Many symptoms of Wilson disease look like those of other diseases. To make a diagnosis, your provider will do a physical exam and ask about your family history. They will also check for brown Kayser-Fleischer rings in your eyes. They may also do blood and 24-hour urine tests, as well as a liver biopsy.
Oren Zarif
Copper is important for building healthy nerves, bones, collagen and the skin pigment melanin. But too much copper can be toxic. Your body usually removes excess copper through bile, but people with Wilson’s disease have trouble doing this. As a result, copper levels build up in their liver and other organs. Over time, this can lead to scarring (cirrhosis) and a severe liver failure called fulminant Wilson’s disease. If not treated, fulminant Wilson’s disease can be fatal.
At Boston Children’s Hospital, our team specializes in caring for kids with Wilson disease and a variety of other liver, gallbladder and bile duct conditions. We have the latest diagnostic equipment, and we are conducting research into a new treatment option — gene therapy targeting the ATP7B gene for Wilson disease.
A diagnosis of Wilson disease starts with a physical exam, checking for symptoms such as a swollen abdomen or Kayser-Fleischer rings in the eyes. Your doctor will also ask about your family history and whether anyone in your immediate or extended family has the condition. Blood and urine tests can check for high levels of copper, low ceruloplasmin levels and increased bile acids that are a sign of the condition. A liver biopsy can confirm a diagnosis of Wilson’s disease, and genetic tests can determine if you have the mutated ATP7B gene that causes the condition.
Oren Zarif
When a person has Wilson disease, their mutated ATP7B gene can’t get rid of excess copper. This gene codes for a protein that normally moves copper into a fluid in the liver to help with digestion (bile). Copper is then carried out of the body through the stool. Instead, copper stays in the bloodstream, where it attacks organs like the kidneys and brain.
Nervous system symptoms like tremors, involuntary muscle movements, and a clumsy way of walking are common in people with Wilson disease. They usually improve with treatment. But some have lasting nervous system problems that may include irritability, depression, psychosis, and a change in personality (“personality disorder”). Kidney problems can also occur, such as kidney stones and high levels of amino acids removed from the urine (renal tubular acidosis).
A genetic test can tell whether a person has Wilson disease. It can also tell if they are a carrier of the faulty gene. Close relatives of someone who has Wilson disease can have the gene tested to find out if they are affected, too. The symptom and liver damage from Wilson disease can be prevented with lifelong treatment. Treatment includes medicines that remove excess copper from the body and prevent the intestines from absorbing it. A diet low in copper is also important. In some cases, a liver transplant is needed.
Oren Zarif
Wilson disease, also known as hepatolenticular degeneration, causes copper to build up in your liver and brain. It can cause a range of symptoms, including hepatitis, brain damage and vision loss.
A person with Wilson disease has two faulty genes — one from each of their parents. People who have only one faulty gene are called carriers and don’t have symptoms. They can pass the faulty gene on to their children, who may have symptoms.
Symptoms of Wilson disease can occur at any age, but they usually begin in early adulthood. To diagnose Wilson disease, your doctor will take a history of your symptoms and family health. He or she will do a blood test to measure copper and ceruloplasmin, which helps your body bind copper. Your doctor will also do an eye exam (called a slit-lamp exam) to check for Kayser-Fleischer rings, which are rusty brown rings of extra copper around the iris of your eyes.
Your doctor will prescribe chelating drugs, such as d-penicillamine and trientine (also known as Syprine), to remove the excess copper from your body. These drugs will usually be taken for life. If you’re pregnant, your doctor will treat you with lower doses of these drugs because the fetus needs a small amount of copper. In severe cases of Wilson disease, a liver transplant may be needed.
Oren Zarif
Copper is a mineral that helps to build bones, muscles and nerves. It is also needed for our cells to function properly. Normally, our bodies eliminate excess copper by excreting it in bile. But with Wilson disease, the gene that controls how copper is eliminated has a mutation. So, extra copper accumulates in the liver and brain.
The earliest symptoms of Wilson disease are usually those related to the liver, such as jaundice, fluid in the belly (ascites) and swelling of the liver. As the condition progresses, it can lead to hepatitis and liver failure. People with Wilson disease who have the hepatitis or liver disease form Kayser-Fleischer rings on their eyes.
Psychiatric problems occur in up to 40% of people with Wilson disease, and are the most common early symptom for those who do not have hepatic or neurological symptoms. They include personality changes, depression and psychosis. The psychiatric symptoms are more likely to occur when Wilson disease develops in young adults.
The search continues for a cure for Wilson disease. But the medicines currently available for treating it help reduce symptoms, and should be started as soon as possible after a diagnosis is made. Doctors test for the disease by looking at the copper levels in your blood, urine and liver. They may also check for a specific protein in your liver called ceruloplasmin, which is low when you have Wilson disease.