Wilson's Disease

[Maggie999]

I posted a question on May 23 regarding an undiagnosed neuroligical condition, and you were good enough to reply.  In your reply, you mentioned Wilson's disease.  In December of last year, my aunt informed me that two of her cousins (my father's side) had Wilson's disease. As she knew that I was undiagnosed, she thought I might want to check out the possibility of this disease.  Prior to this I had never heard of Wilson's disease, but I called the nurse at my neuro's office and he ordered a 24 hr urine copper, which was normal.  In February when I presented at this office with dystonia or tonic spasms in my right hand and foot (this had happened previously in November as well, but not as severe), he asked me if he had ever tested me for Wilson's disease.  When I told him he had, he once again checked the results of the 24hr urine.  In March when he injected botox in my right calf, he mentioned it again.  Now I post a question here, and you mention Wilson's disease. Is the 24 hr urine copper definitive for excluding a Wilson's disease diagnosis?  I've been having symptoms for years, and in the last six months, I have heard more about this illness, which I've been told is a rare hereditary disease....it's making me wonder, even with the negative urine result, should I look further?

Thanks again for your help.

[katcour]

A related discussion, Wilsons's eye rings? was started.

[katcour]

A related discussion, Wilson's Disease eye rings? was started.

[CCF-Neuro-M.D.-JT]

The most common test we use is a serum (blood) ceruloplasmin level, a protein made in your liver that's involved with copper processing. It's low in up to 90% of Wilson's patients.  The 24 hr urine copper is said by some sources to always be elevated in Wilson's, but the definitive diagnostic test is a liver biopsy with copper measurement. Finally, a formal eye exam by an ophthalmologist to look for very specific changes seen in Wilson's patients (what's called Kayser Fleischer rings) can be helpful. Whether or not to pursue this diagnosis is up to you and your physicians.  Based on your examination and clinical history, you will all have to decide whether or not there is enough clnical suspicion to go further in the workup. Good luck.

[misaki]

I don't think urine copper it's enough to exclude Wilson... Your neuro should ask for a blood test to check out serum copper and ceruloplasmin (which is a blood protein which carries copper). Another test to determine if you have Wilson disease is the presence of Kayser-Fleischer rings around the cornea (they're rims of brownish green pigment seen in the periphery of the cornea, which show an accumulation of copper).

I'm just a 2nd year med student with neuro problems herself, trying to help. Good luck.

~misaki (please forgive my english).