home>>Wilson’s Disease Treatment

Wilson’s Disease Treatment

Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism. It is a genetic disease that is characterized by excessive deposition of copper in the liver, brain, eyes, and other tissues. The disorder prevents the body from removing extra copper.
Wilson disease is often fatal and may cause life threatening organ damage, if not recognized and treated when symptomatic.

Causes of Wilson’s Disease

Wilson disease is caused by an inherited autosomal recessive mutation, in the ATP7B gene and is not typically seen in every generation of an affected family.

  • Risk factors of Wilsons disease
  • Men and women can equally develop Wilson
  • Family history of Wilson disease

Signs & Symptoms of Wilsons disease

Symptoms of Wilson usually appear between 5 and 35 years of age while new cases can be reported between 3 to 72 years of age. The most common presenting feature of Wilsons disease is Hepatic dysfunction and the disease have 3 major patterns of hepatic involvement are as follows:

  • Chronic active hepatitis
  • Cirrhosis
  • Fulminant hepatic failure

Wilson’s disease leads to a wide variety of signs and symptoms in different parts of the body. They may include:

  • Fatigue
  • Lack of appetite
  • Hypoglycemia
  • Abdominal pain
  • Jaundice
  • Easy bruising
  • Fluid buildup in the legs or abdomen
  • Problems with speech, swallowing or physical coordination
  • Uncontrolled movements or muscle stiffness
  • Tremors
  • Gait disturbance
  • Vision impairment

How is Wilson disease diagnosed?

A physician takes thorough medical history of each and every organ, and symptom of the patient followed by physical examination. After this, several tests and exams are performed to diagnose Wilson disease, including the following:

  • Blood tests
  • Urine tests
  • Liver biopsy
  • Imaging tests i.e. MRI& CT scan
  • Reys Auditory Verbal Learning test

Management of Wilsons disease

The success of treatment for Wilson depends upon early diagnosis and early start of the treatment. It is a treatable condition with proper therapy and disease progression can be halted and symptoms can be improved. The most common treatments are:
De-coppering and chelating therapy to prompt the body organs to release copper into the bloodstream.
Mettalothionein inducer drugs
Surgery is required in patients with severe liver damage for liver transplant.