Wilson's disease, an inherited disorder, causes copper to accumulate in vital organs. It's treatable when diagnosed early.
Wilson's disease is a rare inherited disorder that causes copper to accumulate in your liver, brain and other vital organs. Most people with Wilson's disease are diagnosed between the ages of 5 and 35, but it can affect younger and older people, as well.
Copper plays a key role in the development of healthy nerves, bones, collagen and the skin pigment melanin. Normally, copper is absorbed from your food, and excess is excreted through a substance produced in your liver (bile).
But in people with Wilson's disease, copper isn't eliminated properly and instead accumulates, possibly to a life-threatening level. When diagnosed early, Wilson's disease is treatable, and many people with the disorder live normal lives.
The liver is your largest internal organ. About the size of a football, it's located mainly in the upper right portion of your abdomen, beneath the diaphragm and above your stomach.
Wilson's disease is present at birth, but signs and symptoms don't appear until the copper builds up in the brain, liver or other organ. Signs and symptoms vary depending on the parts of your body affected by the disease. They can include:
Make an appointment with your doctor if you have signs and symptoms that worry you, especially if a family member has Wilson's disease.
Wilson's disease is inherited as an autosomal recessive trait, which means that to develop the disease you must inherit one copy of the defective gene from each parent. If you receive only one abnormal gene, you won't become ill yourself, but you're a carrier and can pass the gene to your children.
To have an autosomal recessive disorder, you inherit two changed genes, sometimes called mutations. You get one from each parent. Their health is rarely affected because they have only one changed gene. Two carriers have a 25% chance of having an unaffected child with two unaffected genes. They have a 50% chance of having an unaffected child who also is a carrier. They have a 25% chance of having an affected child with two changed genes.
You can be at increased risk of Wilson's disease if your parents or siblings have the condition. Ask your doctor whether you should undergo genetic testing to find out if you have Wilson's disease. Diagnosing the condition as early as possible dramatically increases the chances of successful treatment.
Untreated, Wilson's disease can be fatal. Serious complications include:
A typical liver (left) shows no signs of scarring. In cirrhosis (right), scar tissue replaces healthy liver tissue.
Diagnosing Wilson's disease can be challenging because its signs and symptoms are often hard to tell from those of other liver diseases, such as hepatitis. Also, symptoms can evolve over time. Behavioral changes that come on gradually can be especially hard to link to Wilson's.
Doctors rely on a combination of symptoms and test results to make the diagnosis. Tests and procedures used to diagnose Wilson's disease include:
A liver biopsy is a procedure to remove a small sample of liver tissue for laboratory testing. Liver biopsy is commonly performed by inserting a thin needle through your skin and into your liver.
Your doctor might recommend medications called chelating agents, which bind copper and then prompt your organs to release the copper into your bloodstream. The copper is then filtered by your kidneys and released into your urine.
Treatment then focuses on preventing copper from building up again. For severe liver damage, a liver transplant might be necessary.
If you take medications for Wilson's disease, treatment is lifelong. Medications include:
Zinc acetate (Galzin). This medication prevents your body from absorbing copper from the food you eat. It is typically used as maintenance therapy to prevent copper from building up again after treatment with penicillamine or trientine.
Zinc acetate might be used as primary therapy if you can't take penicillamine or trientine. Zinc acetate can cause stomach upset.
Your doctor might also recommend other medications for symptom relief.
If your liver damage is severe, you might need a liver transplant. During a liver transplant, a surgeon removes your diseased liver and replaces it with a healthy liver from a donor.
Most transplanted livers come from donors who have died. But in some cases a liver can come from a living donor, such as a family member. In that case, the surgeon removes your diseased liver and replaces it with a portion of the donor's liver.
During living liver donation, surgeons remove approximately 40% to 70% of the donor liver and place it into the recipient.
If you have Wilson's disease, your doctor will likely recommend that you limit the amount of copper you consume in your diet. You might also want to have your tap water's copper levels tested if you have copper pipes in your home. And be sure to avoid multivitamins that contain copper.
Foods that contain high amounts of copper include:
You'll likely first see your family doctor or a general practitioner. You then might be referred to a doctor who specializes in the liver (hepatologist).
When you make the appointment, ask if there's anything you need to do in advance, such as restrict your diet for blood tests.
Make a list of:
Take a family member or friend along, if possible, to help you remember the information you're given.
For Wilson's disease, questions to ask your doctor include:
Don't hesitate to ask other questions.
Your doctor is likely to ask you several questions, such as: