SINGAPORE - Wilson disease is an inherited disease characterised by excessive storage of copper in the liver.
The excessive copper leads to constant liver damage, which can then lead to liver cirrhosis (scarring), liver failure, liver cancer and death. Once the liver is saturated with copper, copper will overflow to other organs, such as the brain and eyes.
Patients with early Wilson disease have no symptoms. But those with the disease in the advanced stage can experience symptoms of liver cirrhosis and liver failure, such as recurrent infection, ascites (accumulation of fluid in the abdomen), leg swelling, confusion and internal bleeding.
Some patients with early Wilson disease are diagnosed when they undergo routine screening.
As Wilson disease is an autosomal recessive disease - meaning two copies of an abnormal gene have to be present for the disease to develop - it can run in the family.
Once an individual is diagnosed with it, his siblings must undergo screening, as a sibling has a one in four chance of having it.
The most important aspect in management of the disease is establishing the diagnosis of Wilson disease, which is based on the presence of liver damage and accumulation of excessive copper in the body.
Once the diagnosis is confirmed, effective treatment is available to reduce copper deposition in the liver and to remove the excessive copper in the liver.
Liver cirrhosis can be stabilised and even reversed once treatment has started.
I treated a woman who had been diagnosed with Wilson disease when she was a teenager and later developed liver cirrhosis.
With effective treatment, excessive copper was removed from her body.
She has since been living a normal life - graduating with a university degree, getting a job, getting married and giving birth to a child a year ago.
If a patient has recurrent fever, low protein level in the blood and ascites, then he may have liver failure. This is rare and may require liver dialysis.
In some cases, liver failure can be reversed after treatment, but if it continues, the patient has to consult an experienced hepatologist about liver transplantation.
A patient with Wilson disease should avoid eating food high in copper, such as internal organs of animals, shellfish, nuts and chocolate.
The amounts of copper in chicken and eggs are not very high and these types of food should not be avoided.
I am not aware of any scientific basis in using reflexology to treat Wilson disease.
Wilson disease is rare but treatable.
I strongly advise you to consult a hepatologist for confirmation of the diagnosis, initiation of treatment and to discuss the option of liver transplantation.
Once the diagnosis is confirmed, you should take your family members to the specialist to screen for the disease.
DR DESMOND WAI
Gastroenterologist and hepatologist at Desmond Wai Liver & Gastrointestinal Diseases Centre at Gleneagles Medical Centre
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