Validation of the familial chylomicronaemia syndrome (FCS) score in an ethnically diverse cohort: implications for diagnosis and differentiation from multifactorial chylomicronaemia syndrome (MCS)

Bilal Bashir, See Kwok, Anthony Wierzbicki, Alan Jones, Charlotte Dawson, Paul Downie, Fiona Jenkinson, Hannah Dealeny, Michael Mansfield, Dev Datta, Yee Teoh, Paul Hamilton, Natalie Forrester, Dawn O'Sullivan, Maryam Ferdousi, Paul Durrington, Alaa Abdel Razik, Antonio Gallo, Philippe Moulin, Handrean Soran*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Background and aims
Prognosis and management differ between familial chylomicronaemia syndrome (FCS), a rare autosomal recessive disorder, and multifactorial chylomicronaemia syndrome (MCS) or severe mixed hyperlipidaemia. A clinical scoring tool to differentiate these conditions has been devised but not been validated in other populations. The objective of this study was to validate this score in the UK population and identify any additional factors that might improve it.

Methods
A retrospective validation study was conducted using data from 151 patients comprising 75 FCS and 76 MCS patients. All participants had undergone genetic testing for genes implicated in FCS. Validation was performed by standard methods. Additional variables were identified from clinical data by logistic regression analysis.

Results
At the recommended FCS score threshold ≥10 points, the sensitivity and specificity of the score in the UK population were 96% and 75%, respectively. The receiver operating characteristic (ROC) curve analysis yielded an area under the curve (AUC) of 0.88 (95% CI 0.83–0.94, p < 0.001). This study identified non-European (predominantly South Asian) ethnicity, parental consanguinity, body mass index (BMI) < 25 kg/m2, and recurrent pancreatitis as additional positive predictors, while BMI >30 kg/m2 was found to be a negative predictor for FCS. However, inclusion of additional FCS predictors had no significant impact on performance of standard FCS score.

Conclusions
Our study validates the FCS score in the UK population to distinguish FCS from MCS. While additional FCS predictors were identified, they did not improve further the score diagnostic performance.
Original languageEnglish
Article number117476
Number of pages9
JournalAtherosclerosis
Volume391
Early online date05 Mar 2024
Publication statusPublished - Apr 2024

Fingerprint

Dive into the research topics of 'Validation of the familial chylomicronaemia syndrome (FCS) score in an ethnically diverse cohort: implications for diagnosis and differentiation from multifactorial chylomicronaemia syndrome (MCS)'. Together they form a unique fingerprint.

Cite this