Wilson's disease: Causes, Symptoms, Treatment
Wilson’s disease is an inherited disorder that causes too much copper to accumulate in your liver, brain and other vital organs. Another term for Wilson’s disease is hepatolenticular degeneration.
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. Left untreated, Wilson’s disease is fatal. When diagnosed early, Wilson’s disease is treatable, and many people with the disorder live normal lives.
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.
Signs and symptoms of Wilson’s disease include:
- Difficulty speaking
- Difficulty swallowing
- Difficulty walking
- Easy bruising
- Involuntary shaking
- Joint pain
- Loss of appetite
- Skin rash
- Swelling of arms and legs
- Yellowing of the skin and eyes (jaundice)
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, tell your doctor at your next appointment. Your doctor may recommend tests to determine whether you may have Wilson’s disease.
Wilson’s disease occurs when a genetic mutation leads to an accumulation of copper in your body.
How the genetic mutation occurs
The genetic mutation that causes Wilson’s disease is most commonly passed from one generation to the next. 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.
How the genetic mutation causes Wilson’s disease
The mutation that causes Wilson’s disease causes problems with a protein that’s responsible for moving excess copper out of your liver.
Your body collects copper from the food you eat during the digestive process. The copper is transported to your liver where liver cells use it for everyday tasks. Most people eat more copper than they need. In these cases, the liver takes what it needs and excretes the rest in bile, a digestive juice made by the liver.
But in people with Wilson’s disease, the extra copper doesn’t leave your body. Instead, copper builds up in the liver, where it can cause serious and sometimes irreversible damage. In time, excess copper leaves the liver and begins accumulating in and harming other organs, especially the brain, eyes and kidneys.
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.
- Liver cancer. Damage to the liver caused by Wilson’s disease may increase the risk of liver cancer.
- 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 (aminoaciduria).
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 look for copper in your blood. Your blood may also be tested for the level of a protein called ceruloplasmin. This protein, which carries copper in your bloodstream, is usually low in Wilson’s disease. Your doctor may also use urine tests to measure the amount of copper excreted in your urine in a 24-hour period.
- Brain scans. If you have signs and symptoms that indicate Wilson’s disease is affecting your brain, your doctor may recommend tests to create images of your brain. Tests may include computerized tomography (CT) and magnetic resonance imaging (MRI).
- 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 called DNA mutation analysis can identify the genetic mutations that cause Wilson’s disease. This test is available at a limited number of medical centers and is done using a small sample of blood drawn from your arm or collected from a finger prick. It’s recommended when other forms of testing support a diagnosis of Wilson’s disease or when other tests fail to provide conclusive results. Knowing the Wilson’s disease mutations in your family allows doctors to genetically screen siblings and begin treatment before debilitating symptoms arise.
Lifestyle and Home Remedies
Doctors sometimes recommend limiting the amount of copper you consume in your diet during the first year of your treatment for Wilson’s disease. As your signs and symptoms recede and the copper levels in your body drop, you may be able to include copper-containing foods in your diet.
Foods that contain high levels of copper include:
- Copper-containing vitamin and mineral supplements
- Dried fruit
- Dried peas, beans and lentils
- Bran products
Copper in tap water
Have your tap water’s copper levels tested if you have copper pipes in your home or if your water comes from a well. Most municipal water systems don’t contain high levels of copper.
If you have copper pipes, run the tap for several seconds before collecting water for drinking or cooking. Water that sits in the copper pipes can pick up copper particles. Running the water flushes that contaminated water out of the pipes.