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The clinical utility of a low serum ceruloplasmin measurement in the diagnosis of Wilson Disease
Kelly, D Crotty, G O’Mullane, J Stapleton, M Sweeney, B O’Sullivan, SS
Kelly, D
Crotty, G
O’Mullane, J
Stapleton, M
Sweeney, B
O’Sullivan, SS
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Date
2016-01
Date Submitted
Keywords
LIVER DISEASE
Other Subjects
WILSON DISEASE
Subject Mesh
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Start Date
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Principal Investigators
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Adobe PDF, 24.15 KB
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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 centreâ 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.
Language
en