A-234 Comparative analysis of the lipid profile and anthropometric parameters of Brazilian patients with familial chylomicronemia syndrome caused by different mutations

Abstract Background Familial chylomicronemia syndrome (FCS) is a rare, autosomal recessive condition that affects the activity of the enzyme lipoprotein lipase (LPL) or one of its cofactors (APOC2, APOA5, LMF1, and GPIHBP1). Its treatment involves restricting food consumption, which usually implies individuals with a lean or eutrophic phenotype. The aim of this study was to compare clinical and anthropometric characteristics between individuals with different mutations for FCS. Methods This is a cross-sectional study that included all patients with a genetic diagnosis of FCS, followed at a referral outpatient clinic in a tertiary hospital in Ceará, Brazil. Clinical and laboratory data were collected, anthropometric characteristics - weight, height - were analyzed, body mass index (BMI) and lipid profile were calculated. Results We identified 18 individuals with canonical genes for FCS, with a median age of 32 years (5-64), 66,7% of whom were female. Twelve individuals had a pathogenic variant for LPL (FCS-LPL group), four for GPIHBP1, one for APOA5 and one for APOC2 (FCS-non-LPL group). All patients had severe hypertriglyceridemia, with a median triglyceride (TG) of 3.996,5 mg/dL (1.394-43.446). The FCS individuals had median total cholesterol (TC) and HDL levels of 186,5 (87-1.133) mg/dL and 16,5 (10-45) mg/dL, respectively. The FCS-LPL had higher TG values and pancreatitis recurrence (8 cases vs. 1 case), although with lower BMI values, with a median of 19,88 (18,2-26,2) Kg/m2, when compared to the FCS-non-LPL. In the latter, 50% had BMI compatible with overweight/obesity. Conclusion FCS-LPL individuals have more severe hypertriglyceridemia, but with a eutrophic or even underweight, which is distinct from those with FCS-non-LPL (caused by other genetic variants). Such findings may be related limitations and adherence to dietary recommendations of the former, since they are more severe forms and with a higher incidence of pancreatitis, but it cannot be ruled out that such anthropometric characteristics are related to this genotype and possible action of lipase on body adiposity.