Wilson's disease is a rare inherited disorder that causes too much copper to accumulate in your liver, brain and other vital organs. Symptoms typically begin between the ages of 12 and 23.
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 any excess is excreted through bile — a substance produced in your liver.
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 causes a wide variety of signs and symptoms that are often mistaken for other diseases and conditions. Signs and symptoms vary depending on what parts of your body are affected by Wilson's disease. They may include:
- Fatigue, lack of appetite or abdominal pain
- Jaundice, a yellowing of the skin and the whites of the eye
- A tendency to bruise easily
- Fluid buildup in the legs or abdomen
- Problems with speech, swallowing or physical coordination
- Uncontrolled movements or muscle stiffness
When to see a doctor
Make an appointment with your doctor if you have any signs and symptoms that worry you. If a family member has been diagnosed with Wilson's disease, your doctor may recommend tests to determine whether you may have Wilson's disease.
Wilson's disease is inherited as an autosomal recessive trait, which means that to develop the disease you must inherit two copies of the defective gene, one from each parent. If you receive only one abnormal gene, you won't become ill yourself, but you're considered a carrier and can pass the gene to your children.
|Autosomal recessive inheritance pattern|
To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent. These disorders are usually passed on by two carriers. Their health is rarely affected, but they have one mutated gene (recessive gene) and one normal gene (dominant gene) for the condition. Two carriers have a 25 percent chance of having an unaffected child with two normal genes (left), a 50 percent chance of having an unaffected child who also is a carrier (middle), and a 25 percent chance of having an affected child with two recessive genes (right).
You may be at increased risk of Wilson's disease if your parents or siblings have been diagnosed with 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.
Wilson's disease can cause serious complications such as:
- Scarring of the liver (cirrhosis). As liver cells try to make repairs to damage done by excess copper, scar tissue forms in the liver. The scar tissue makes it more difficult for the liver to function.
- Liver failure. Liver failure can occur suddenly (acute liver failure), or it can develop slowly over many years. If liver failure progresses, a liver transplant may be a treatment option.
- Persistent neurological problems. Neurological problems usually improve with treatment for Wilson's disease. However, some people may experience persistent neurological difficulty despite treatment.
- Kidney problems. Wilson's disease can damage the kidneys, leading to kidney problems such as kidney stones and an abnormal number of amino acids excreted in the urine.
- Psychological problems. These problems may include personality changes, depression, bipolar disorder or psychosis.
|Normal liver vs. liver cirrhosis|
A normal liver (left) shows no signs of scarring. In cirrhosis (right), scar tissue replaces normal liver tissue.
Preparing for your appointment
You're likely to start by first seeing your family doctor or a general practitioner. If your doctor suspects you may have a liver problem, such as Wilson's disease, you may be referred to a doctor who specializes in the liver (hepatologist).
How to prepare
Because appointments can be brief, and because there's often a lot of ground to cover, it's a good idea to be well-prepared for your appointment. To prepare for your appointment, try to:
- Be aware of any pre-appointment restrictions. At the time you make the appointment, be sure to ask if there's anything you need to do in advance, such as restrict your diet for blood tests.
- Note down any symptoms you're experiencing, even if they seem unrelated to the reason you have scheduled the appointment.
- Write down key personal information, including any major stresses, recent life changes and any family history of Wilson's disease.
- Make a list of all medications, vitamins or supplements you're taking.
- Take a family member or friend along, if possible. Sometimes it can be difficult to absorb all the information provided during an appointment. Someone who accompanies you may remember something that you missed or forgot.
Questions to ask
Your time with your doctor is limited, so preparing a list of questions will help you make the most of your time together. List your questions from most important to least important in case time runs out. For Wilson's disease, some basic questions to ask your doctor include:
- What kinds of tests do I need?
- What treatment do you recommend?
- What are the side effects of the recommended treatment?
- Are there other treatment options?
- I have these other health conditions. How can I best manage them together?
- Are there any restrictions that I need to follow?
- Should I avoid alcohol or medications that might harm my liver?
- Should my family members be tested for Wilson's disease?
- Are there any brochures or other printed material that I can take with me? What websites do you recommend?
In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask questions during your appointment at any time that you don't understand something.
Tests and diagnosis
Diagnosing Wilson's disease can be challenging because its signs and symptoms are often indistinguishable from those of other liver diseases, such as hepatitis. What's more, many symptoms may evolve over time rather than appear all at once. 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:
- Blood and urine tests. Your doctor may recommend blood tests to monitor your liver function and check the copper levels in your blood. Your doctor also may want to measure the amount of copper excreted in your urine during a 24-hour time period.
- Eye exam. Using a microscope with a high-intensity light source (slit lamp), an ophthalmologist checks your eyes for golden-brown discoloring (Kayser-Fleischer rings). The abnormal appearance is caused by deposits of excess copper in the eyes. Wilson's disease has also been associated with a type of cataract, called a sunflower cataract, that can be seen on an eye exam.
- Removing a sample of liver tissue for testing. In a procedure called a liver biopsy, your doctor inserts a thin needle through your skin and into your liver. Your doctor draws out a small sample of liver tissue and sends it to a laboratory to test for excess copper.
- Genetic testing. A blood test can identify the genetic mutations that cause Wilson's disease. Knowing the Wilson's disease mutations in your family allows doctors to screen siblings and begin treatment before debilitating symptoms arise.
A liver biopsy is a procedure to remove a small sample of liver tissue for laboratory testing. A liver biopsy is commonly performed by inserting a thin needle through your skin and into your liver.
Treatments and drugs
Your doctor may recommend medications called chelating agents, which prompt your organs to release 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. When liver damage is severe, a liver transplant may be necessary.
The most common medications used to treat Wilson's disease include:
- Penicillamine (Cuprimine, Depen). A chelating agent, penicillamine can cause serious side effects, including skin problems, bone marrow suppression and worsening of neurological symptoms.
- Trientine (Syprine). Trientine works much like penicillamine but tends to cause fewer side effects. Still, there is a risk that neurological symptoms can worsen when taking trientine, though it's thought to be a lower risk than is penicillamine.
- Zinc acetate (Galzin). This medication prevents your body from absorbing copper from the food you eat. Zinc acetate can cause stomach upset.
For people with severe liver damage, a liver transplant may be necessary. 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.
|Living liver donor procedure|
During living liver donation, surgeons remove approximately 40 to 70 percent of the donor liver and place it into the recipient.
Lifestyle and home remedies
If you have Wilson's disease, your doctor might 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:
Last updated: August 28th, 2014