P9 A retrospective analysis: are patients with Wilson’s disease being missed?

<h3>Background</h3> Wilson’s disease (WD) is a rare autosomal recessive disorder of copper metabolism. Low levels of caeruloplasmin (&lt;0.2g/L) can screen for WD and enable timely treatment. Only 4% of patients become symptomatic over the age of 40,¹ therefore, some guidelines recommend limiting testing in older populations.^{2 3} A previous study by Tapper et al⁴ found that low caeruloplasmin levels were inappropriately requested and inadequately followed up in the United States, with a ‘shotgun’ approach to liver disease screening. This study evaluates caeruloplasmin testing at Leeds Teaching Hospitals Trust (LTHT) to explore if low levels were appropriately followed up, and to what extent caeruloplasmin was ordered outside of age recommendations. <h3>Methods</h3> A retrospective analysis of all primary and secondary care caeruloplasmin requests between 01/04/2017 and 31/12/2017 at LTHT in patients over the age of 18. Anonymised data including patient demographics, requester details, and appropriate follow-up (criteria defined in figure 1) was collected and analysed on patients with low caeruloplasmin levels (&lt;0.2g/L). As this was a retrospective data collection, in accordance with the UK Health Research Authority guidance, no central ethical committee submission was made. <h3>Results</h3> 2631 caeruloplasmin levels were measured in 2510 patients, with 160 low caeruloplasmin levels (&lt;0.2g/L), resulting in one WD diagnosis. Only 36% of low caeruloplasmin levels were followed up appropriately, with tests as part of a ‘liver screen’ being the most common reason for testing (48%) and the most poorly followed up (75% not followed-up). Most tests originated from primary care (44%). 33% of patients with low ceruloplasmin results were over the age of 50, with only 11% of these being followed up appropriately. Patients under age 50 were significantly more likely to get followed up (p&lt;0.01 at sig 5%, using a chi-squared test). <h3>Discussion</h3> This study demonstrated a lack of appropriate follow-up for patients with low caeruloplasmin levels, raising the possibility of missed WD diagnoses. This may be due to a ‘shotgun’ approach to liver disease screening. Moreover, caeruloplasmin was over-tested in populations where the expected incidence of a new diagnosis of WD would be low (patients aged over 50),^{2 3} although we note that 2022 BASL guidelines now recommend testing in all adults with liver disease.⁵ This study hopes to be built on for further investigation into clearer caeruloplasmin testing guidelines and standardised follow-up pathways to reduce the risk of missed diagnoses and improve resource use within the NHS. <h3>References</h3> Ferenci P, <i>et al.</i> ‘Late-onset Wilson’s disease’. <i>Gastroenterology</i>, 2007;<b>132</b>(4):1294–1298. doi:10.1053/j.gastro.2007.02.057. National Institute for Health and Care Excellence Clinical Knowledge Summaries (NICE CKS). Non-alcoholic fatty liver disease (NAFLD).(Accessed 2023 October 9). Available from: https://cks.nice.org.uk/topics/non-alcoholic-fatty-liver-disease-nafld/ Isolated Abnormal ALT - Adult Leeds guidelines. Published March 2015, reviewed May 2021. (Accessed 2023 October 9). Tapper EB, <i>et al.</i> ‘The overuse of serum ceruloplasmin measurement’. <i>The American Journal of Medicine</i>, 2013;<b>126</b>(10). doi:10.1016/j.amjmed.2013.01.039. Shribman S, <i>et al.</i> ‘Investigation and management of Wilson’s Disease: A Practical Guide from the British Association for the study of the liver’. <i>The Lancet Gastroenterology &amp;amp; Hepatology</i>, 2022;<b>7</b>(6):560–575. doi:10.1016/s2468-1253(22)00004-8.