Wilson’s Disease: Causes, Symptoms & Treatment

Wilson’s disease is a rare genetic disorder that causes the body to store excess copper instead of eliminating it. This results in dangerous levels of copper accumulating in the body, especially in the liver, brain and eyes.

Copper is vital to our health. It is required for a number of cellular functions, but we only require small amounts. Copper is absorbed from the foods we eat, and any excess copper is usually excreted through bile production within the liver.

For people with Wilson’s disease, this process doesn’t happen. Toxic amounts of copper build up in the body. This causes liver disease and neurological and psychiatric conditions, and it can potentially rise to life-threatening levels without treatment.


What Causes Wilson’s Disease?

As a genetic disorder, Wilson’s disease is a condition inherited by individuals from their parents. It is an autosomal recessive trait, which means both parents must carry the abnormal gene for a person to develop the disease.

Signs and symptoms of Wilson’s disease usually appear during the teenage years. Although, some patients develop symptoms as early as five years of age. Most people are diagnosed before the age of 45. Early studies estimate that Wilson’s disease affects 1 in 30,000 people, but newer studies suggest that it may be more common.

Wilson’s disease is diagnosed by family history, physical examination and tests, including blood and urine tests, biopsy, genetic testing, and imaging tests.

Symptoms Of Wilson’s Disease

Although people are born with Wilson’s disease, symptoms only occur when copper has built up to high enough levels in the body’s organs to cause problems. There are many signs and symptoms, which can vary depending on where the copper is accumulating. Signs and symptoms include:

  • Fatigue
  • Abdominal pain, nausea and/or vomiting
  • Dark urine and/or light-colored stool
  • Loss of appetite
  • Unintentional weight loss
  • Swelling of the legs or abdomen
  • Jaundice (yellowing of the eyes and skin)
  • Itchy skin
  • Green-brown discoloration around the iris of the eye called Kayser-Fleischer ring
  • Speech and swallowing problems
  • Clumsiness/coordination problems
  • Tremors
  • Muscle stiffness
  • Anxiety
  • Depression

If left untreated, Wilson’s disease can lead to serious complications, and some of those can be fatal. Complications can include:

  • Cirrhosis
  • Liver failure
  • Heart disease
  • Anemia
  • Kidney disease
  • Arthritis
  • Osteoporosis


How Is Wilson’s Disease Treated?

Treatment is focused on first removing excessive copper, followed by lifelong treatment to prevent it from accumulating again in the future. Medications that may be used include:

  • Chelating agents that bind to the copper in the blood to allow it to be filtered and passed in urine.
  • Zinc to prevent the body from absorbing copper from food.

If liver damage is advanced, a liver transplant may be necessary.

Most people with Wilson’s disease will also need to limit foods that are high in copper, including shellfish, nuts, mushrooms, certain meats and chocolate. Patients should also avoid supplements containing copper. For people living in homes that have copper pipes, water testing is recommended.

The team at GastroIntestinal Specialists, A.M.C., treats multiple conditions and diseases of the GI tract. Our Board-Certified physicians have more than 150 years of combined experience in providing quality care that you can trust. To schedule an appointment, call (318) 631-9121 or click here.