Antilipidemic Treatment in Patients with Familial Hypercholesterolemia Cohort

Abstract

Background: Familial hypercholesterolemia (FH) is an inherited disorder with a prevalence 1:250. FH is caused by variants in the genes coding low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9) [1,2]. It is crucial to identify patients with suspected FH and start treatment to prevent coronary artery disease (CAD). Aim: To compare FH patients antilipidemic treatment peculiarities. Methods: This is a retrospective cohort study of patients with a suspected FH. Subjects were included in the study according to the criteria of the Dutch Lipid Clinic (DLC), divided into three groups 1. patients with APOB variant; 2. patients with the LDLR variant. 3. patients without previously described variants. Next generation sequencing was used to sequence the coding regions. Statistical analysis was performed using SPSS 29.0.1. Results: A total of 45 patients were enrolled - 27 (60%) men and 18 (40%) women, mean age - 47.93 years (SD=9.391). After genetic sequencing, 5 (11%) patients were diagnosed with APOB rs5742904, 2 (4%) patients had an LDLR rs879254754 variant. 35 (77%) subjects were using antilipidemic drugs (Chart 1). Most prescribed medications- high intensity dosage atorvastatin. 5 APOB rs5742904 variant patients vs. 1 LDLR rs879254754 variant patient were using antilipidemic drugs with a men LDL Cholesterol (LDL-C) 5,894 (SD=0,805) vs. 6,6 (SD=0,651) mmol/l. Patients with positive FH variant, had lower triglycerides (TGC) rate (1,82 vs. 3,26 mmol/l, p<0,02). Conclusion: According to our study, only three quarters of patients are treated based on recent European Society of Cardiology guidelines.