Validation of the familial chylomicronaemia syndrome (FCS) score in an ethnically diverse cohort from UK FCS registry: implications for diagnosis and differentiation from multifactorial chylomicronaemia syndrome (MCS)
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.
Author
Bashir, Bilal
Kwok, See
Wierzbicki, Anthony S
Jones, Alan
Dawson, Charlotte
Downie, Paul
Jenkinson, Fiona
Delaney, Hannah
Mansfield, Michael
Datta, Dev
Teoh, Yee
Hamilton, Paul
Forrester, Natalie
O'Sullivan, Dawn
Ferdousi, Maryam
Durrington, Paul N
AbdelRazik, Alaa
Gallo, Antonio
Moulin, Philippe
Soran, Handrean
Kwok, See
Wierzbicki, Anthony S
Jones, Alan
Dawson, Charlotte
Downie, Paul
Jenkinson, Fiona
Delaney, Hannah
Mansfield, Michael
Datta, Dev
Teoh, Yee
Hamilton, Paul
Forrester, Natalie
O'Sullivan, Dawn
Ferdousi, Maryam
Durrington, Paul N
AbdelRazik, Alaa
Gallo, Antonio
Moulin, Philippe
Soran, Handrean
Citations
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Date
2024-04-03
Type
Article
Subject
Citation
Bashir B, Kwok S, Wierzbicki AS, Jones A, Dawson C, Downie P, Jenkinson F, Delaney H, Mansfield M, Datta D, Teoh Y, Hamilton P, Forrester N, O'Sullivan D, Ferdousi M, Durrington PN, AbdelRazik A, Gallo A, Moulin P, Soran H. Validation of the familial chylomicronaemia syndrome (FCS) score in an ethnically diverse cohort from UK FCS registry: Implications for diagnosis and differentiation from multifactorial chylomicronaemia syndrome (MCS). Atherosclerosis. 2024 Apr;391:117476. doi: 10.1016/j.atherosclerosis.2024.117476.
Journal / Source Title
Atherosclerosis
DOI
10.1016/j.atherosclerosis.2024.117476
PMID
38447437
Publisher
Elsevier