P9 Screening and high risk symptomatology of Wilsons disease in 56,606 new referrals in a large tertiary psychiatric population

<h3>Background</h3> Wilson’s disease (WD) can present with purely hepatic, neurological or psychiatric symptoms and also as multiple combinations of these three. There are very limited data on the psychiatric pattern of symptoms of WD and the consideration of WD in the psychiatric assessment. South London and Maudsley NHS Foundation Trust (SLaM) is an international leader in mental health and is the largest provider of secondary mental health services in the UK receiving receive referrals from a wide and diverse catchment area. Our work investigates considerations of WD at SLaM and the pattern/overlap of symptoms at presentation of WD. <h3>Methodology</h3> We utilised the Clinical Records Interactive Search system at SLaM and hospital episodes statistics data to collect new referrals from 2017 to 2019. This also allowed us to gather patient demographics, blood tests and the nature of the psychiatric presentation. Statistical analyses were conducted using Excel, R, and STATA. <h3>Results</h3> We identified 56,606 new referrals to SLaM over the 2 year period. 9.5% had liver function (LFT) and 0.1% had ceruloplasmin (Cp) requested, with only 27 of the abnormal LFT also having Cp requested. 81 patients were identified as diagnosed with WD on electronic records. Figure 1 shows their top 5 combination of symptoms. 16,575 patients in our cohort had these ‘higher risk’ symptoms. Of these, 19% had blood tests requested, 5.4% had abnormal LFT and only 0.27% had LFT and Cp requested. 36 patients were referred after WD was diagnosed (mean time 5.56 years), and 21 were referred before diagnosis (mean time 6.64 years). Using generalised linear modelling, no association was found between age, gender, deprivation score, or ethnicity and the length of time to diagnosis. <h3>Conclusion</h3> The phenomenology of the presentation is of interest with many of the symptoms being likely linked to the subcortical nature of the disease pathology. We conclude that the psychiatric presentation in WD differs from the type of presentation seen in depressive or psychotic conditions and key differences in symptoms identified may be of use to aid diagnosis of WD. Our data indicate that WD remains under-screened among psychiatric patients, with only a small percentage (0.1%) being evaluated for the condition. It also highlights that 29% of new referrals were linked to a combination of ‘higher-risk psychiatric symptoms.’ We suggest that any patient with raised liver function +/- a combination of ‘higher risk’ symptoms should be screened with Cp as minimum standard of care.

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Published
2025-10-01
DOI
https://doi.org/10.1136/gutjnl-2025-basl.26
Primary Topic
Trace Elements in Health
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article

P9 Screening and high risk symptomatology of Wilsons disease in 56,606 new referrals in a large tertiary psychiatric population

David Okai, Richard H. Thompson, Aftab Ala, James Liu Yin
Trace Elements in Health
article

P9 Screening and high risk symptomatology of Wilsons disease in 56,606 new referrals in a large tertiary psychiatric population

David Okai, Richard H. Thompson, Aftab Ala, James Liu Yin
article en

Abstract

<h3>Background</h3> Wilson’s disease (WD) can present with purely hepatic, neurological or psychiatric symptoms and also as multiple combinations of these three. There are very limited data on the psychiatric pattern of symptoms of WD and the consideration of WD in the psychiatric assessment. South London and Maudsley NHS Foundation Trust (SLaM) is an international leader in mental health and is the largest provider of secondary mental health services in the UK receiving receive referrals from a wide and diverse catchment area. Our work investigates considerations of WD at SLaM and the pattern/overlap of symptoms at presentation of WD. <h3>Methodology</h3> We utilised the Clinical Records Interactive Search system at SLaM and hospital episodes statistics data to collect new referrals from 2017 to 2019. This also allowed us to gather patient demographics, blood tests and the nature of the psychiatric presentation. Statistical analyses were conducted using Excel, R, and STATA. <h3>Results</h3> We identified 56,606 new referrals to SLaM over the 2 year period. 9.5% had liver function (LFT) and 0.1% had ceruloplasmin (Cp) requested, with only 27 of the abnormal LFT also having Cp requested. 81 patients were identified as diagnosed with WD on electronic records. Figure 1 shows their top 5 combination of symptoms. 16,575 patients in our cohort had these ‘higher risk’ symptoms. Of these, 19% had blood tests requested, 5.4% had abnormal LFT and only 0.27% had LFT and Cp requested. 36 patients were referred after WD was diagnosed (mean time 5.56 years), and 21 were referred before diagnosis (mean time 6.64 years). Using generalised linear modelling, no association was found between age, gender, deprivation score, or ethnicity and the length of time to diagnosis. <h3>Conclusion</h3> The phenomenology of the presentation is of interest with many of the symptoms being likely linked to the subcortical nature of the disease pathology. We conclude that the psychiatric presentation in WD differs from the type of presentation seen in depressive or psychotic conditions and key differences in symptoms identified may be of use to aid diagnosis of WD. Our data indicate that WD remains under-screened among psychiatric patients, with only a small percentage (0.1%) being evaluated for the condition. It also highlights that 29% of new referrals were linked to a combination of ‘higher-risk psychiatric symptoms.’ We suggest that any patient with raised liver function +/- a combination of ‘higher risk’ symptoms should be screened with Cp as minimum standard of care.

South London and Maudsley NHS Foundation Trust (GB), Maudsley Hospital (GB), King's College Hospital (GB)
Openalex Percentile: Top 66%
Trace Elements in Health
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