Acknowledgement of Wilson's Disease has not been added yet.

Wilson’s Disease has an estimated prevalence of 1 in 30,000 worldwide, affecting those born male and female equally. It is typically diagnosed between 5 and 35 years of age, although it can appear at any age.

Name	Abbreviation
	Hepatolenticular degeneration, Wilson's hepatolenticular degeneration, Progressive lenticular degeneration

Wilson’s Disease is caused by mutations in the ATP7B gene which regulates copper metabolism. The protein derived from this gene is responsible for transporting copper from the liver to other parts of the body, incorporating copper into certain enzymes, and plays a role in removing excess copper from the body and excreting it into bile, which is then eliminated through the digestive tract. Mutations in the ATP7B gene lead to a malfunction of this copper-transporting protein. Copper accumulates in the liver, and over time, is released into the bloodstream and deposited in organs such as the brain, kidneys and eyes, causing the symptoms associated with the disease.

Wilson’s Disease is inherited in an autosomal recessive pattern (see RareShare Guide on Genetic Inheritance). Individuals must inherit two copies of the mutated gene, one from each parent, in order to express the trait of Wilson’s Disease. The parents having one mutated gene do not show symptoms of the disease.

Wilson’s Disease symptoms can vary depending on the organs affected and may include the following:

• Liver Problems:

  • Jaundice (yellowing of the skin and eyes)

  • Hepatitis (inflammation of the liver)

  • Cirrhosis (scarring or damage to the liver)

  • Abdominal swelling

  • Easy bruising and bleeding

• Neurological Symptoms:

  • Tremors

  • Muscle stiffness

  • Difficulty with speech and swallowing

  • Poor coordination

  • Unsteady gait

• Psychiatric Symptoms:

  • Depression

  • Anxiety

  • Mood swings

  • Behavioral changes

  • Sleep disturbances

• Ocular Symptoms:

  • Kayser-Fleischer rings (golden-brown rings around the irises of the eyes)

• Other Symptoms:

  • Fatigue

  • Joint pain

  • Anemia

  • Kidney problems

  • Abnormal blood vessels in the esophagus (esophageal varices)

Diagnosis of Wilson’s Disease may include the following:

• Blood tests:  Measurements to detect elevated serum copper levels and liver enzymes, low levels of ceruloplasmin (a copper-carrying protein).

• Urine test:  Measure amount of copper excreted in 24 hours.

• Liver biopsy:  Measure amount of copper in liver tissue.

• Eye examination:  Look for Kayser-Fleischer ring deposits in the cornea by slit-lamp examination

Genetic testing:  Identify ATP7B gene mutations

Diagnostic tests of Wilson's Disease has not been added yet

Treatment for Wilson’s Disease aims to reduce copper levels in the body and prevent further accumulation. This may include the following options:

• Chelation therapy:  Use of medications such as d-penicillamine or trientine to bind copper and facilitate its excretion in urine.

• Zinc acetate:  Blocks the absorption of copper from the diet in the intestine.

• Dietary changes:  Avoidance of foods high in copper such as shellfish, liver, nuts, chocolate and mushrooms.

• Liver transplantation:  In cases with severe liver damage or failure, a liver transplant may be needed.

With early diagnosis and appropriate treatment, Wilson’s Disease patients can lead normal, healthy lives. Lifelong monitoring and adherence to treatment regimens are essential for disease management. Untreated, the disease can be fatal due to liver failure or severe neurological damage.

Tips or Suggestions of Wilson's Disease has not been added yet.

1. Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008 Jun;47(6):2089-111:  Diagnosis and Treatment of Wilson Disease:  An Update.

2. American Association for the Study of Liver Diseases:  Practice Guidelines for Diagnosis and Treatment of Wilson Disease.

3. NORD:  Wilson Disease.