WILSON’S DISEASE

Description

  • Copper poisoning in the body
  • It is a rare inherited disorder
  • Too much copper accumulates in the liver, brain and other vital organs

Symptoms

  • Weakness
  • Feeling tired
  • Weight loss
  • Nausea
  • Vomiting
  • Loss of appetite
  • Itching
  • Jaundice, or yellowing of the skin
  • Edema, or the swelling of legs and abdomen
  • Pain or bloating in the abdomen
  • Spider angiomas, or visible branch-like blood vessels on the skin
  • Muscle cramps
  • Personality changes
  • Dementia
  • or distress
  • Emotional or behavioral changes

Causes

  • Mutation in the ATP7B gene
  • Both parents should have defective gene
  • Inherited as an autosomal recessive trait

Risk Factors

  • Parents or siblings diagnosed with same condition
  • Parents carrying the gene

Diagnostic Tests

Physical exam:

  • Examining the body
  • Listening for sounds in the abdomen
  • Checking eyes under a bright light for K-F rings,or sunflower cataracts
  • Testing motor and memory skills

Lab tests:

  • Abnormalities in the liver enzymes
  • Copper levels in the blood
  • Lower levels of ceruloplasmin
  • A mutated gene, also called genetic testing
  • Low blood sugar

Imaging tests:

  • Magnetic resonance imaging (MRI) scan
  • computerized tomography (CT) scan
  • Abdominal X-ray
  • Liver biopsy

Treatment

  • Medications
  • Vitamin E supplements
  • Low-copper Diet
  • Exercise or physical therapy
  • Liver transplant (in severe cases)

Medications

  • Penicillamine (Cuprimine, Depen)
  • Trientine (Syprine)
  • Zinc acetate (Galzin)

Lifestyle Management

  • Limit the amount of copper in the diet
  • Get the tap water’s copper level tested
  • Avoid multivitamins that contain copper
  • Avoid foods containing high amount of copper
  • Food to be avoided include:
  • Liver
  • Shellfish
  • Mushroom
  • Nuts
  • Chocolate