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Wilson’s disease

by Dr Howard Lee

question
My five-year-old has been tested for Wilson’s disease. He has tremors in his hands and is very clumsy. He gets irritable and agitated, and every five weeks, he has a few days of vomiting. I've been searching the Internet for answers but lots of symptoms seem to describe my son’s condition.

answer
I am not sure if the diagnosis of Wilson’s Disease has actually been made, or if, as you say, your little boy has just been tested in the light of various symptoms/signs or on the strength of a family history of the condition.

It is a rare, but important inherited disease, in which the content of copper in the body is increased, with excess copper being deposited in, and possibly causing damage, to several organs. The liver is the first place where the excess copper accumulates and is often the first organ to show abnormal features. Any excess copper from the ‘full’ liver will then appear in other organs.

I can reassure you and say that the prognosis for Wilson’s disease is excellent provided that treatment is started early. Essentially your son’s symptoms could indicate Wilson’s disease if there are certain changes in his blood levels. These include: low serum caeruloplasmin (the special enzyme which uses copper), low serum copper, increased urinary copper, or elevated copper in the liver.

Your little one is just five years old, the encouraging thing is that if Wilson’s disease is eventually diagnosed, treatment will certainly be ‘early’, and therefore much more effective.

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