Familial hypercholesterolemia (FH) markedly increases the risk of premature atherosclerotic cardiovascular disease (ASCVD). Despite available therapies, FH remains underdiagnosed and undertreated. The Show more
Familial hypercholesterolemia (FH) markedly increases the risk of premature atherosclerotic cardiovascular disease (ASCVD). Despite available therapies, FH remains underdiagnosed and undertreated. The aim of this study is to characterize FH patients and to evaluate treatment response specifically in those with a confirmed pathogenic mutation. We retrospectively analysed 189 adults with clinical suspicion of FH seen at a cardiology department of a Belgian hospital between 2018 and 2024. Clinical, biochemical, and treatment data were retrieved from electronic records, and the Dutch Lipid Clinic Network (DLCN) score was calculated. Genetic testing was performed in 181 patients. Patients were stratified into primary and secondary prevention groups. The cohort comprised 116 patients (61%) in primary prevention and 73 (39%) in secondary prevention; the latter were older, predominantly male, and had more comorbidities. Genetic mutations were identified in 91 patients, most frequently in the LDL receptor gene (74%), followed by the ApoB gene (19%). Twenty-one patients had a DLCN score > 8, of whom four had no detectable pathogenic mutation. In genetically confirmed FH, mean LDL-cholesterol decreased from 267 ± 82 mg/dL at baseline to 100 ± 57 mg/dL at last follow-up, with greater reductions in secondary prevention. PCSK9 inhibitor use increased significantly during follow-up. Nevertheless, only 43% of secondary prevention patients achieved LDL-C < 55 mg/dL, and 24% of primary prevention patients reached < 70 mg/dL. FH lipid management in this real-world cohort achieved substantial LDL-C reductions, but target attainment remained suboptimal. Show less