Wilson's Disease with a normal liver biopsy result?

Patient

Q: I recently had a liver biopsy to see if I have Wilson's disease. The doctors doing the biopsy were convinced based on my symptoms and other tests that I had WD and said that even if my liver copper level came back normal that they would still want me treated for WD. The gastroenterologist that sent me to get the biopsy believes that the normal biopsy result means I do not have WD and does not recommend treatment. Is it possible to have Wilson's disease and still have a normal liver biopsy result? I have many symptoms and tests that indicate I may have it and do not want to dismiss the possibility so easily given it's deadly potential.

Doctor

A:   Wilsons disease is a condition which is passed on genetically in the autosomal recessive fashion and it involves abnormal copper metabolism. Typically you would have symptoms of liver failure or hepatitis,and it can lead to kidney, brain as well as eye issues due to the deposition of the excessive copper in these tissues. Wilsons disease is usually diagnosed based on the clinical picture and the presence of increasaed liver function tests. 2 out of the following 3 are needed for diagnosis: Reduced total serum copper levels , Increased liver copper on biopsy , Kayser fleisher rings( rings in the eyes due to copper deposition). If you have any 2 of these 3 symptoms then you can be officially diagnosed as having wilsons. Thus as you see a normal liver biopsy can also indicate Wilsons. Thus I advice treament in your case. All the best.

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