Assessment of pediatric hypercholesterolemia with a clinical data warehouse

Abstract

Abstract Introduction Familial hypercholesterolemia (FH) in children and adolescents is a genetic cause of premature coronary heart disease. Early detection of patients with FH could improve their management and life expectancy. Methods A retrospective observational study was conducted using our university hospital clinical data warehouse including children born after 01/01/2000, with at least one available lipid profile. Phenotypic diagnosis of hypercholesterolemia was defined by a plasma LDL-C level ≥5 mmol/L (190 mg/dL). Above-threshold children were compared with below-threshold children on available features: age, sex, weight and height, plasma total, HDL, LDL cholesterol, triglycerides, creatinine, urea, protein, albumin, thyroid stimulating hormone and cortisol levels. Results 1,362 children were included, of whom 48 had at least one LDL-C measurement ≥5 mmol/L and 1,314 below (control). Only 2 children presented with a specific E78 hypercholesterolemia code versus 8 in the control group. Patients above the threshold were 1.5 years younger, with a mean cortisolaemia lower compared to the controls. Discussion Lipid profile is not routinely prescribed for children, and they are not routinely managed for their increased cholesterol levels. Lipid profile for children and adolescents were mainly prescribed in intensive care settings or in association with endocrine checkup. Hospital clinical data warehouse is an opportunity to specify practices in screening for Familial Hypercholesterolemia and lipid profile prescription in children. Key messages Lipid profile is not routinely prescribed for children. Hospital clinical data warehouse is an opportunity to specify practices in screening for Familial Hypercholesterolemia.