ECEESPE2025 Poster Presentations Adrenal and Cardiovascular Endocrinology (169 abstracts)
Quantification of plasma free cholesterol using LC–MS/MS: A potential screening marker for familial hypercholesterolemia in children
Vera de Kleijne 1 , Monique Albersen 1 , Eduard Struys 2 , Willemijn Corpeleijn 3 , Martijn Kranendijk 1 , Anita Boelen 1 , Barbara Hutten 4 , Wendy den Elzen 5 , Robert de Jonge 2 , Annet Bosch 6 & Annemieke Heijboer 1
1Endocrine Laboratory, department of Laboratory Medicine, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology & Metabolism, Amsterdam, Netherlands, 2Department of Laboratory Medicine, Amsterdam UMC, Amsterdam, Netherlands, 3Department of Pediatrics, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology & Metabolism, Amsterdam, Netherlands, 4Department of Epidemiology and Data Science, Amsterdam Cardiovascular Sciences, Amsterdam UMC, Amsterdam, Netherlands, 5Laboratory Specialized Diagnostics & Research, Department of Laboratory Medicine, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology & Metabolism, Amsterdam Public Health, Amsterdam, Netherlands, 6Department of Pediatrics, Division of Metabolic Diseases, Emma Children’s Hospital, Amsterdam UMC, Amsterdam Gastroenterology Endocrinology & Metabolism, Amsterdam, Netherlands
JOINT336
Introduction: Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated levels of low-density lipoprotein cholesterol (LDL-c) from birth onwards, leading to an increased risk of premature cardiovascular events. Given that treatment for FH can start as early as 8 years of age, ideally, screening should be performed at a young age to enable early detection and intervention, leading to an optimal clinical outcome. However, universal screening for FH is not yet widely performed, and traditional biomarkers, including total cholesterol and LDL-c, leave considerable room for improvement in terms of sensitivity and specificity. Therefore, we explored the feasibility of using plasma free cholesterol as a potential screening marker for FH in children.
Methods: We developed and validated an LC–MS/MS method to quantify free cholesterol in plasma. Using this method, we analyzed plasma samples from three groups of children (aged 1 – 18 years): with a confirmed pathogenic FH gene variant (n=15), those who tested negative for FH variants (n=9), and a presumptively unaffected population (n=51). Additionally, LDL-c, total cholesterol, HDL-cholesterol, non-HDL-cholesterol, triglycerides, lipoprotein(a), and apolipoproteins A1 and B were quantified.
Results: Free cholesterol and LDL-c levels were strongly correlated (R2=0.86) in all children. Free cholesterol levels in children with FH (median (IQR): 1.76 (1.44–1.94) mmol/L) were significantly higher compared to unaffected children (1.32 (1.09–1.54) mmol/L) and the presumptively unaffected population (1.11 (0.94–1.23) mmol/L). Although free cholesterol levels were significantly higher in the FH group across all ages, this effect was more pronounced in children below 10 years old. To validate these findings and establish cut-off values for free cholesterol as a screening marker, further analyses will be performed in a larger cohort.
Discussion: Free cholesterol seems to perform comparably to LDL-c and total cholesterol in detecting FH and may offer several methodological advantages, such as a very small sample volume (5 μL) and high throughput. Therefore, free cholesterol may be a suitable biomarker for large-scale screening for FH in children, potentially improving early detection and treatment to prevent premature cardiovascular events.
Volume 110
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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