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.
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
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.
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 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.
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.
These problems may include personality changes, Depression, Bipolar disorder or psychosis.
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 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.
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: