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Wilson’s Disease

Copper is a mineral absorbed from food that plays an important role in the development of healthy bones, nerves, collagen and skin pigment. Usually, excess copper is excreted from the body through bile, which is produced by the liver. However, in those who suffer from the inherited disorder Wilson’s disease, copper isn’t eliminated properly and accumulates in the liver, brain and other vital organs.

Causes of Wilson’s Disease

Wilson’s disease is caused by a defective gene that must be present in both parents for the disease to develop. Individuals who inherit only one defective gene won’t develop Wilson’s disease, but could pass the gene to their children. This condition affects about one in 30,000 people.

Symptoms of Wilson’s Disease

While the disease is present at birth, symptoms don’t appear until excess copper has had time to build up in the brain, liver or another organ. Depending on the area of the body being affected, symptoms can include:

  • Fatigue
  • Loss of appetite
  • Abdominal pain
  • Jaundice (yellowing of the skin and eyes)
  • Fluid buildup in the abdomen
  • Uncontrolled movements
  • Muscle stiffness
  • Loss of coordination
  • Speech problems
  • Golden-brown eye discoloration

Left untreated, Wilson’s disease can lead to severe complications, including:

  • Liver cirrhosis
  • Liver failure
  • Neurological problems
  • Kidney problems
  • Psychological problems
  • Blood problems

Diagnosing Wilson’s Disease

Wilson’s disease is usually diagnosed between the ages of 5 and 40, though some carriers don’t develop symptoms until they get older. The diagnostic process usually includes a review of the patient’s symptoms and medical history, as well as a physical exam. If Wilson’s disease is suspected, testing may be performed to confirm the diagnosis.

Possible tests include:

  • Blood tests to examine liver enzymes and copper levels in the bloodstream
  • Urine collection tests to measure copper levels
  • A liver biopsy to look for excess copper
  • Imaging tests to examine the nervous system

Treatments for Wilson’s Disease

People who suffer from Wilson’s disease require lifelong treatment, though symptoms and organ damage can be prevented in most cases. Medications and supplements that help remove copper from the body and prevent the intestines from absorbing copper are usually part of the treatment plan. If severe liver damage has occurred, a liver transplant might be necessary.

At Tampa General Hospital, we typically perform a higher than average number of liver transplants each year, making our liver transplant program one of the busiest programs in the region.