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About Rare DiseasesRare Disease Wiki

Wilson's Disease (WD)

Name of disease:

Wilson's Disease (WD)

ICD-10 diagnosis code:

E83.0

Causes:

  • Wilson's Disease is caused by mutations in the ATP7B gene. This gene provides instructions for making a protein called copper-transporting ATPase 2 which plays a role in the transportation of copper from the liver to other parts of the body.
  • Copper is necessary for many cellular functions but it is toxic when present in excessive amounts.
  • The copper-transporting ATPase 2 protein is particularly important for the elimination of excess copper from the body.
  • Mutations in the ATP7B gene prevent the transportation protein from functioning properly.
  • With a shortage of functional protein excess copper is not removed from the body. As a result copper accumulates to toxic levels that can damage tissues and organs particularly the liver and brain.

Mode of inheritance:

  • This condition is inherited in an autosomal recessive pattern which means both copies of the gene in each cell have variants.
  • The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene but they typically do not show signs and symptoms of the condition.

Prevalence:

17.93 per million in Hong Kong

Diagnosis:

  • Blood and urine tests
  • Eye exam
  • Liver biopsy
  • Genetic testing

Age of onset:

6 – 45 years old

Common signs and symptoms:

  • Tiredness and loss of appetite
  • A yellowing of the skin and the whites of the eye known as jaundice
  • Golden-brown or copper-coloured rings around the irises of the eyes known as Kayser-Fleischer rings
  • Fluid buildup in the legs or stomach area
  • Problems with speech swallowing or physical coordination
  • Depression mood changes and personality changes
  • Having a hard time falling asleep and staying asleep
  • Uncontrolled movements or muscle stiffness

Available treatment (medicinal and non-medicinal):

  • Copper chelating agents to attach themselves to copper and cause organs to release that copper into the bloodstream. The kidneys then filter the copper and release it to urine.
  • Zinc acetate to stop copper from building up again after treatment with copper chelating agents.
  • Liver transplantation if the liver damage is severe.

Disease management tips:

  • Limit the amount of copper in the diet (e.g. shellfish mushrooms nuts chocolate).
  • Test the copper levels in tap water if there are copper pipes at home.
  • Avoid using multivitamins containing copper.

References:

Other useful websites:

Hong Kong Wilson's Disease Association
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