A low serum ceruloplasmin concentration is one of the classic findings in Wilson's disease. However, this finding is neither sensitive nor specific for the disease.


Causes of a low serum ceruloplasmin:

(1) age < 6 months (early infancy)

(2) homozygous Wilson's disease

(3) heterozygous Wilson's disease

(4) nephrotic syndrome

(5) protein malnutrition

(6) malabsorption

(7) Menkes kinky hair syndrome

(8) congenital absence of ceruloplasmin (aceruloplasminemia)

(9) liver disease (acute hepatitis, chronic hepatitis, alcoholic liver disease, other)


Causes of an elevated serum ceruloplasmin (can take a low value and make it normal):

(1) chronic inflammation, including longstanding rheumatoid arthritis (as an acute phase reactant)

(2) pregnancy

(3) oral contraceptive or estrogen therapy

(4) thyrotoxicosis

(5) biliary cirrhosis

(6) cancer

(7) drugs (carbmazepine, methadone, phenobarbital, phenytoin, tamoxifen)

(8) trauma

(9) turbid serum (lipemia, etc) if nephelometric assay used


Cauza et al found that a low serum ceruloplasmin concentration only had a 6% positive predictive value for homozygous Wilson's disease.


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