A member asked:

I have low caeruloplamin 0.19g/l and low serum copper 12.5 umol/l - units (australian). do i have wilson disease? or copper deficiency? thanks.

4 doctors weighed in across 2 answers

Finish workup: If there is any concern at all that you have Wilson's, get a proper screen -- urinary copper and perhaps a genetic screen if you've got suggestive symptoms. Missing Wilson's leads to one of the most grisly deaths possible. Managing it is easy. Your ceruloplasmin is trivially low and reference ranges are set so that a few percent of healthies are outside on either end.

Answered 5/16/2016

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Dr. Richard Roberts answered

Specializes in Pediatrics

Possible: Wilson disease is very rare and unless you have an affected sibling it is not likely. If affected, the body cannot rid itself of excess copper by excreting it in the bile; eventually toxic levels occur in tissues, particularly liver and brain. Because copper is absorbed into tissues, paradoxically copper levels in the blood are abnormally low. See http://www.ncbi.nlm.nih.gov/books/NBK1512/

Answered 6/19/2015

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