Abstract

One of the current challenges is the early identification of patients with Familial Hypercholesterolemia (FH) through clinical diagnosis and genetic analysis to initiate treatment and prevent the development of atherosclerotic disease. Aim: To describe the results of a pilot program for opportunistic screening of Familial Hypercholesterolemia index cases in a highly complex hospital laboratory. Materials and Methods: Retrospective cross-sectional convenience recruitment study. Search for patients with clinical suspicion of FH was conducted by analyzing the lipid profile of users from the Las Higueras Hospital of Talcahuano, between 2019 and 2021. Patients were selected and stratified according to LDL-C concentrations using the Dutch Lipid Clinic Network (DLCN) Criteria. Patients with a DLCN score >6 were selected as candidates for genetic diagnosis. Results: 36,804 lipid profiles were obtained, of which 19,021 corresponded to a unique lipid profile per patient. After applying the exclusion criteria, 98 patients suspected of FH. According to the DLCN criteria, 5 patients were stratified with a definitive clinical diagnosis (DLCN >= 8) and 4 with a probable diagnosis of FH (DLCN 6-7). In 4 of the 6 patients who were contacted, 3 genetic variants associated with FH were identified. Conclusion: This work corresponds to the first report on the application of an FH screening program in a highly complex hospital center in Chile and allowed the definitive diagnosis of pediatric and adult patients with FH. These results demonstrate the importance of implementing an opportunistic screening program and performing genetic analysis for FH variants to a definitive diagnosis.