Wilson disease

What is Wilson Disease?

Wilson disease is an inherited disease that causes the body to retain too much copper. Copper deposits in the liver, brain, kidneys, and eyes eventually cause tissue damage and scarring that makes the affected organs stop working properly. If not diagnosed and treated early, the condition causes organ failure and death.

Symptoms typically first appear in childhood or early adolescence, but they can appear as early as age 3 and as late as age 70. The most common symptom is liver disease, which first appears as fatigue, abdominal pain, or jaundice. In some cases, it progresses quickly to liver or kidney failure, and will require a liver transplant.

Symptoms can also include neurological problems such as tremors, poor coordination, loss of fine motor skills, problems walking, muscle rigidity in the body or face, or difficulty swallowing. Some people with the condition also develop psychiatric problems including depression, poor impulse control, phobias, aggression, and compulsive behavior. Wilson disease may also interfere with memory and attention span.

Copper deposits also accumulate in the eyes, creating characteristic brown circles around the colored part of the eye. These circles do not interfere with vision.

Even with ongoing treatment to remove excess copper from the body, people with Wilson disease sometimes develop arthritis, heart problems, and endocrine disorders caused by copper accumulation.

How common is Wilson Disease?

Worldwide, approximately 1 in 30,000 people have Wilson disease. It is most common in China, Japan, and Sardinia, where it may affect as many as 1 in 10,000 people.

How is Wilson Disease treated?

Wilson disease requires lifelong, regular treatment to remove copper from the body. Most people with the condition take a medication called penicillamine (brand name: Cuprimine or Depen) several times a day by mouth, combined with vitamin B6. This traps and removes copper from the body through the urine. However, some people react to penicillamine with fever, rash, and other serious complications. These people may be treated with other oral medications such as trientine or high-dose zinc. For individuals who do not respond to medication or have severe side effects, liver transplant is a final treatment option.

With careful treatment prior to the first symptom's appearance, most symptoms can be prevented. If treatment begins after symptoms appear, these symptoms can often show marked improvement. Stopping treatment, however, will cause health problems to return.

People with Wilson disease should not use copper cooking utensils. They should avoid foods high in copper, such as liver, chocolate, mushrooms, nuts, and shellfish. If they live in an area with copper water pipes, they should drink distilled water.

What is the prognosis for a person with Wilson Disease?

With proper treatment, Wilson disease can be managed for many years after diagnosis. Its effect on lifespan is unclear.