title: The Clinical Utility of a Low Serum Ceruloplasmin Measurement in the Diagnosis of Wilson Disease.
abstract: 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.
authors.forename: D
authors.initials: D
authors.lastname: Kelly
authors.forename: G
authors.initials: G
authors.lastname: Crotty
authors.forename: J
authors.initials: J
authors.lastname: O'Mullane
authors.forename: M
authors.initials: M
authors.lastname: Stapleton
authors.forename: B
authors.initials: B
authors.lastname: Sweeney
authors.forename: S S
authors.initials: SS
authors.lastname: O'Sullivan
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001706:Biopsy; D002570:Ceruloplasmin / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003300:Copper / Q000652:urine; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000378:metabolism*; D006801:Humans; D007223:Infant; D007494:Ireland; D008099:Liver / Q000473:pathology; D008111:Liver Function Tests; D008297:Male; D008875:Middle Aged; D011237:Predictive Value of Tests; D012189:Retrospective Studies; D012680:Sensitivity and Specificity; D055815:Young Adult
chemical_list: D003300:Copper; D002570:Ceruloplasmin