Wilson's Disease

A presentation by Renee LeGros

What is Wilson's disease?

Wilson's disease is a genetic disorder that affects one in every 30000 individuals. It is autosomal meaning it is not found on the X chromosome, and follows a recessive pattern. This means both parents have to be a carrier of the gene in order to pass it on to their child.


The disease causes the body to retain too much of the element copper, a vital player in the creation of red blood cells and the maintenance on the nervous and immune system. The human body only needs a minuscule amount of copper, however, and too much can lead to buildup in the eyes, liver, brain, etc. to the point of organ damage and organ failure.

Symptoms include:

  • Organ damage to the brain and/or liver as early as four years, and as late as seventy years of age.
  • Discolored rings around the irises (Kayser-Fleischer rings)
  • Difficulty moving the eyes
  • Jaundice (yellowing or whitening of the skin or whites of the eyes)
  • Fatigue
  • Loss of appetite
  • Abdominal swelling
  • Easy bruising
  • Clumsiness
  • Trembling
  • Difficulty walking or learning to walk
  • Problems with speech
  • Problems with schoolwork
  • Depression
  • Anxiety
  • Mood swings

Additionally

Some individuals may develop these symptoms later on after diagnosis.

  • anemia
  • Low levels of white blood cells
  • Low levels of platelets
  • Slow to no clotting of blood
  • Large levels of protein, amino acids and uric acid in urine
  • Early onset of arthritis and bone loss/deterioration

Diagnosis and Treatment

The diagnosis for Wilson's disease requires a physical examination for liver and brain damage, and laboratory tests for levels of copper, red blood cells, white blood cells, platelets, urea and proteins in the urine, etc.another portion to the examination requires a slit lamp to help the doctor look for rings around the afflicted's eyes.

Liver biopsy's (removal of a small portion of the affected's liver) are also used to check for liver damage caused by excess copper.


Treatment is limited depending on how early the disease is found. If caught in the early stages, a patient can be treated and live healthy lives by manually removing excess copper from the body and avoiding foods high in copper. Treatment is available for those who suffer minor, fixable damage to the liver and brain.

Drugs like D-penicillamine (Cuprimine) and Trientine (Syprine) are used to remove excess copper from organs and push it to the bloodstream where it will be filtered out by the kidneys and excreted naturally through urination.