Wilson disease

health Nov 23, 2021

Copper is needed by the body for a number of functions.  Mainly, it acts as a cofactor for a number of enzymes.
Copper enters the body through the digestive tract and it is released into the bloodstream. Generally, excess copper is removed by secreting into bile.
What is Wilson disease?
It is a rare genetic disorder characterized by excessive storage of copper in various tissues of the body, particularly the liver, brain, and corneas of the eyes resulting in copper poisoning in the body. It is also known as hepatolenticular degeneration and progressive lenticular degeneration. It affects both males and females equally and is found in all races and ethnic groups.
The disease is progressive and, if left untreated, it may cause liver (hepatic) disease, central nervous system dysfunction, and death.
In the case of persons suffering from Wilson Disease, liver does not release copper into bile and as a result of this, the copper builds up in the liver, causing damage to the organ.
When the amount of copper in the liver overwhelms, it causes damage to the liver leading to chronic active hepatitis, fibrosis (deposition of connective tissue) and cirrhosis.
When excess copper is released from the liver into the bloodstream, it precipitates throughout the body, particularly in the kidneys, eyes and brain causing damage to these areas and the damage leads to the neuropsychiatric symptoms.
Maintenance of the amount of copper in the body is an autosomal recessive trait controlled by a gene (ATP7B) located on chromosome 13.
ATP7B gene plays an important role in the movement of excess copper from the liver to the bile and finally,  excreted from the body through the intestines.
Any disruption or changes (mutations) of the ATP7B gene, causes copper poisoning in the body. More than 300 different mutations of the ATP7B gene have been identified. These mutations can be detected in 90% of cases and ten percent have no detectable mutation.
According to an estimation, Wilson’s disease occurs in approximately one in 30,000 to 40,000 people and approximately one in 90 people may be carriers of the disease gene.


Wilson disease may be diagnosed based upon a thorough clinical assessment, a complete patient history, and specialized tests.
specialized tests include

  • slit-lamp examination of the eyes that reveals the presence of Kayser-Fleischer rings;
  • tests of the fluid portion of the blood (serum) to know the low levels of ceruloplasmin, a copper protein; and
  • tests that reveal abnormally high levels of copper excreted in the urine.
  • liver biopsy for copper analysis
  • haplotype analysis to know whether a full sibling of an affected patient has Wilson disease, or a carrier of the Wilson disease gene, or not a carrier.
  • DNA analysis for diagnosing affected patients.

Wilson’s disease can only be detected by a doctor and through diagnostic testing.
Early diagnosis and treatment are essential to prevent permanent neurologic dysfunction and serious liver disease. Early diagnosis can stop  the progression of Wilson’s disease.


Symptoms usually begin between the ages of 5 and 35 years and males and females are equally affected.
symptoms of copper accumulation in the liver are

  • weakness
  • feeling tired
  • weight loss
  • nausea
  • vomiting
  • loss of appetite
  • itching
  • jaundice, or yellowing of the skin
  • edema, or swelling of legs and abdomen
  • pain or bloating in the abdomen
  • spider angiomas, or visible branch-like blood vessels on the skin
  • muscle cramps
  • presence of abnormal blood vessels in the esophagus that may bleed (esophageal varices)


A. Sandhya

M.Sc Zoology

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