Hi David,
I am replying since nobody else has (I know there are other mailbase
subscribers who specialise in this area). The answer to your question
is yes , somewhat qualified. You don't say what CPL value you got with
this lady. Was it low-normal or really normal?
Wilsons is quite variable in its presentation. Younger patients are
more likely to have hepatic symptoms. We would measure serum Cu and
CPL by an enzymatic (oxidase) method, which is usually unnecessary,
but the normal relationship between CPL and serum Cu is disrupted in
Wilsons (excess free copper in spite of very low total serum copper or
CPL).
The other measurement is urine copper, which is elevated in Wilson's,
particularly in the active stage of the disease, but is not
diagnostic. I recently found grossly elevated urine copper results
from a young woman with neurological symptoms - who turned out not to
have Wilson's when we finally got a serum sample (it's often easier
just to send along a urine and with private outpatients it's difficut
to be picky).
Regards,
Nick Miller
London
On 7 March 2011 13:49, David Burgess <[log in to unmask]> wrote:
> May I enquire of expert subscribers if caeruloplasmin measuremant alone is a sufficient rule-out test for this disease? In particular, does a normal caeruloplasmin result in a 46 y.o. woman with dystonia but without abnormal LFTs or visible Kayser Fleischer rings rule out Wilson's Disease?
> David
>
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