The clinical utility of a low serum ceruloplasmin measurement in the diagnosis of Wilson Disease

Hdl Handle:
http://hdl.handle.net/10147/601116
Title:
The clinical utility of a low serum ceruloplasmin measurement in the diagnosis of Wilson Disease
Authors:
Kelly, D; Crotty, G; O’Mullane, J; Stapleton, M; Sweeney, B; O’Sullivan, SS
Publisher:
Irish Medical Journal
Journal:
Irish Medical Journal
Issue Date:
Jan-2016
URI:
http://hdl.handle.net/10147/601116
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.
Item Type:
Article
Language:
en
Keywords:
LIVER DISEASE
Local subject classification:
WILSON DISEASE

Full metadata record

DC FieldValue Language
dc.contributor.authorKelly, Den
dc.contributor.authorCrotty, Gen
dc.contributor.authorO’Mullane, Jen
dc.contributor.authorStapleton, Men
dc.contributor.authorSweeney, Ben
dc.contributor.authorO’Sullivan, SSen
dc.date.accessioned2016-03-10T11:58:15Zen
dc.date.available2016-03-10T11:58:15Zen
dc.date.issued2016-01en
dc.identifier.urihttp://hdl.handle.net/10147/601116en
dc.description.abstractThe 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.en
dc.language.isoenen
dc.publisherIrish Medical Journalen
dc.subjectLIVER DISEASEen
dc.subject.otherWILSON DISEASEen
dc.titleThe clinical utility of a low serum ceruloplasmin measurement in the diagnosis of Wilson Diseaseen
dc.typeArticleen
dc.identifier.journalIrish Medical Journalen
dc.description.fundingNo fundingen
dc.description.provinceMunsteren
dc.description.peer-reviewpeer-reviewen
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