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Investigation of patients with possible Wilson disease
See Wilson Disease Testing Algorithm in Special Instructions.
Ceruloplasmin is a positive acute phase reactant and a copper-binding protein that accounts for >95% of serum copper in normal adults. Ceruloplasmin is measured primarily to assist with a diagnosis of Wilson disease. Other indications include Menkes disease, dietary copper insufficiency, and risk of cardiovascular disease.
Wilson disease is a rare inherited disorder of copper transport that results in low serum copper and ceruloplasmin and accumulation of copper in various tissues. The pathological accumulation of copper in the liver, brain, cornea, and kidney cause cirrhosis, neuropsychiatric symptoms, Kayser-Fleischer rings, and hematuria/proteinuria, respectively. The Mayo Medical Laboratories Wilson disease testing algorithm (see Wilson Disease Testing Algorithm in Special Instructions) covers the appropriate use of clinical findings, serum biomarkers, genetic tests, and tissue biopsies when working up suspected cases. For additional background on Wilson disease testing see The Diagnosis of Wilson Disease in Publications.
Menkes disease is an X-linked disorder in which dietary copper is absorbed from the gastrointestinal tract but cannot be transported, so copper is not available to the liver for incorporation into ceruloplasmin.
Dietary ceruloplasmin deficiency may be due to inadequate dietary copper intake, long-term parenteral nutrition without copper supplementation, malabsorption, penacillamine therapy, or a combination of these.
0-17 years: 14.0-41.0 mg/dL
> or =18 years: 15.0-30.0 mg/dL
0-17 years: 14.0-41.0 mg/dL
> or =18 years: 16.0-45.0 mg/dL
Values <14 mg/dL are expected in Wilson disease.
Values vary considerably from patient to patient and may be in the normal range in some patients with Wilson disease (indicating a different primary defect).
Ceruloplasmin is a positive acute phase reactant. Increases in serum ceruloplasmin have been reported during pregnancy, in women taking oral contraceptives, in hepatitis, pneumonia, tuberculosis, rheumatoid arthritis, myocardial infarction, various forms of anemia and many obscure neurological disorders.
Ceruloplasmin is a positive acute phase reactant; therefore levels are elevated in cases of inflammation (as in chronic hepatitis or active infection). Consequently, ceruloplasmin levels are not always extremely low in patients with Wilson disease.
Birth control pills and pregnancy increase ceruloplasmin levels.
1. Tang WH, Wu Y, Hartiala J, et al: Clinical and genetic association of serum ceruloplasmin with cardiovascular risk. Arterioscler Thromb Vasc Biol 2012;32:516-522
2. Dadu RT, Dodge R, Nambi V, et al: Ceruloplasmin and heart failure in the Atherosclerosis Risk in Communities study. Circ Heart Fail 2013 Sep 1;6(5):936-943
3. Cox DW, Tumer Z, Roberts EA: Copper transport disorders: Wilson's disease and Menkes disease. In Inborn Metabolic Disease. Edited by J Fernandes, JM Sandubray, F VandenBerghe. Berlin, Heidelberg, New York, Springer-Verlag, 2000, pp 385-391