Caeruloplasmin, Wilsons / Cirrhosis Screen (Copper Oxidase) / Ferroxidase

Immunology

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Description

Caeruloplasmin is an alpha 2 glycoprotein which binds the majority of plasma copper and facilitates copper transport. In its unbound form copper exhibits considerable toxicity to certain tissues. Caeruloplasmin is an acute phase protein and is synthesised in the liver. Consequently elevated caeruloplasmin levels may be seen during acute phase responses, rheumatoid arthritis, vasculitis, pregnancy and oestrogen therapy ( including use of oral contraceptives ). There are two forms of caeruloplasmin; apo- and holo-. Immunochemical assays must not cross react with the apo form because falsely elevated or normal levels can be seen in patients with reduced levels of caeruloplasmin [1]. The antisera in use in Sheffield is specific for the clinically relevant holo-caeruloplasmin protein. ATPase incorporates copper into apo-caeruloplasmin to form the holo-protein. Mutations within the ATPase gene result in the ineffective copper transport seen in patients with Wilson's disease ( ATP7B ) or Menkes disease ( ATP7A ). This results in low holo-caeruloplasmin concentrations with low serum and elevated urine copper levels [2]. Low caeruloplasmin levels may also be observed due to rare genetic deficiencies such as acaeruloplasminaemia or hypocaeruloplasminaemia [2] and also in some severe cases of malabsorption or liver disease.

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Indications

Investigation of early Liver Disease with or without neurological symptoms. Suspected Wilson's Disease or Menkes' Disease.

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Sample Type

2mL Serum ( Gel 5mL Yellow tube ).
Requests from outside Sheffield: transport at ambient temperature via Royal Mail or Courier.

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Reference Range

Age | Serum Caeruloplasmin ( g/L )
<4 months | 0.09 - 0.27
4 mths - 1 year | 0.14 - 0.41
1 - 10 years | 0.24 - 0.47
10-13 years | 0.18 - 0.27
>13 years - adults | 0.20 - 0.60

Reference ranges established in house and by PRU collaboration.

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Turnaround Time

Within 7 days

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Testing Frequency

Daily

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References

Twomey PJ, et al. The copper/ caeruloplasmin ratio in routine clinical practice in different laboratories. J Clin Path. 2009. 62:60-63. [Ref 1]
De Bie P, Wijmenga C, Klomp LWJ. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. J Med Genet. 2007. 44:673-688 [Ref 2]
Merle U, et al. Clinical presentation, diagnosis and long-term outcome of Wilson's disease. Gut. 2007. 56:115-120.
Ala A, et al. Wilson's disease. Lancet. 2007. 369:397-408.Shah AB, et al. Identication and analysis of mutations in the Wilson disease gene AT7B: population frequencies, genotype-phenotype correlation and functional analyses. American Journal of Human Genetics. 1997. 61:317-328.

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Please note: the above information is subject to change and we endeavour to keep this website up to date wherever necessary.