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Wilson’s Disease

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Symptoms of Wilson’s disease

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 skin pigment melanin. Normally, copper is absorbed from your food, and excess is excreted through 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.


Diagnosis of Wilson’s disease

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:

  • Blood and urine tests. Blood tests can monitor your liver function and check the level of a protein that binds copper in the blood (ceruloplasmin) and the level of copper in your blood. Your doctor also might want to measure the amount of copper excreted in your urine during a 24-hour period.
  • Eye exam. Using a microscope with a high-intensity light source (slit lamp), an ophthalmologist checks your eyes for Kayser-Fleischer rings, which are caused by excess copper in the eyes. Wilson’s disease also is associated with a type of cataract, called a sunflower cataract, which can be seen on an eye exam.
  • Removing a sample of liver tissue for testing (biopsy). Your doctor inserts a thin needle through your skin, into your liver, and draws a small sample of tissue. A laboratory tests the tissue for excess copper.
  • Genetic testing. A blood test can identify the genetic mutations that cause Wilson’s disease. Knowing the mutations in your family allows doctors to screen siblings and begin treatment before symptoms arise.

Treatment of Wilson’s disease

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.


Medications used for Wilson’s disease

If you take medications for Wilson’s disease, treatment is lifelong. Medications include:

  • Penicillamine (brand names Cuprimine, Depen). A chelating agent, penicillamine can cause serious side effects, including skin and kidney problems, bone marrow suppression, and worsening of neurological symptoms. Penicillamine should be used cautiously if you have a penicillin allergy. It also keeps vitamin B-6 (pyridoxine) from working, so you’ll need to take a supplement in small doses.
  • Trientine (brand name Syprine). Trientine works much like penicillamine but tends to cause fewer side effects. Still, neurological symptoms can worsen when taking trientine.
  • Zinc acetate (brand name 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.