Causative & risk factors
Wilson’s disease is an autosomal recessive condition. Hence the child must inherit the defective gene from both parents in order to develop symptoms.
Clinical presentation
Wilson’s disease can have a very variable presentation depending upon which organs are affected. The patient may develop oedema (swelling) in the legs, weakness, loss of appetite or even jaundice. Swallowing or speech may become difficult and uncontrolled muscle movements may occur. A brown ring around the iris can be seen in some cases on ophthalmic examination.
Irreversible damage may occur to the kidney, liver, brain and other organs.
Investigations
Diagnosing this disorder is not easy since the presentation is extremely variable. If Wilson’s disease is suspected, various tests will be carried out depending upon the site of affection. These include several blood tests, measurement of urinary copper, liver biopsy etc. A blood test is also available to look for the genetic mutations that cause Wilson’s disease.
Treatment
The patient is advised to stop eating foods that contain high amounts of copper. These include nuts, mushrooms, shellfish, liver etc.
Chelating agents are prescribed which make the body organs release the excessive copper into the bloodstream, which is then excreted. Liver transplantation may be recommended in persons with severe, irreversible liver damage.
