The Clinical Utility of a Low Serum Ceruloplasmin Measurement in the Diagnosis of Wilson Disease

Ir Med J. 2016 Jan;109(1):341-3.


The first step in screening for potential Wilson disease is serum ceruloplasmin testing, whereby a level of less than 0.2g/L is suggestive of the disease. We aimed to determine what proportion of an Irish population had a low ceruloplasmin level, whether low measurements were appropriately followed-up and what were the clinical outcomes. We conducted a retrospective review of all serum ceruloplasmin measurements between August 2003 and October 2009 in a large tertiary referral centre in Southern Ireland. Clinical data, serum ceruloplasmin, liver function tests, urinary copper and liver biopsy reports were all recorded where available. 1573 patients had a serum ceruloplasmin measurement during the 7-year study period. 96 patients (6.1%) had a ceruloplasmin level < 0.2g/L and of these only 3 patients had Wilson disease. There was only 1 new diagnosis. Only 27 patients (28.1%) had some form of confirmatory testing performed. In our centre's experience, the positive predictive value of a significantly low ceruloplasmin level is 11.1% (95% CI 2.91-30.3%). In practice a low serum ceruloplasmin measurement is often not followed by appropriate confirmatory testing. Measuring serum ceruloplasmin as a singular diagnostic test for Wilson disease or as part of the battery of unselected liver screening tests is inappropriate and low-yield.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Biopsy
  • Ceruloplasmin / metabolism*
  • Child
  • Child, Preschool
  • Cohort Studies
  • Copper / urine
  • Female
  • Hepatolenticular Degeneration / diagnosis
  • Hepatolenticular Degeneration / metabolism*
  • Humans
  • Infant
  • Ireland
  • Liver / pathology
  • Liver Function Tests
  • Male
  • Middle Aged
  • Predictive Value of Tests
  • Retrospective Studies
  • Sensitivity and Specificity
  • Young Adult


  • Copper
  • Ceruloplasmin