MSACL 2019 US Abstract

Study on the Association between Hypercholesterolemia and High Phytosterol Levels in Children via Utilization of a Triplex Phytosterol GC-MS Assay

Joon Hee Lee, M.D.(1,2), Kyunghoon Lee, M.D.(1,3), Sun-Hee Jun, M.T.(3), Sang Hoon Song, M.D.(1,2), Choong Ho Shin, M.D.(4), and Junghan Song, M.D.(1,3)
(1) Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea; (2) Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea; (3) Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, Korea; (4) Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.

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Joon Hee Lee (Presenter) Seoul National University Hospital

Relevant Financial Disclosures (within past 24 months) No relevant financial relationship(s) to disclose. Discussing Products? NO, presenter will NOT present educational content related to products/services of the ineligible company(ies) listed above. Conflict mitigation NOT REQUIRED.

Using a GC-MS based triplex phytosterol assay, we studied the association between hypercholesterolemia and high phytosterol levels in children. The concentrations of cholestanol, sitosterol and campesterol were significantly higher in hypercholesterolemic children than normocholesterolemic children. To further investigate into the hypothesis of underdiagnosis in sitosterolemia, we determined an upper limit or cutoff for sitosterol using the sitosterol values of normocholesterolemic children. This cutoff value was subsequently applied to hypercholesterolemic children, and showed 6.4% (14/220) of hypercholesterolemic children with sitosterol values above the cutoff. Our preliminary findings further emphasize the possibility of underdiagnosis of sitosterolemia.