[Screening for familial hypercholesterolemia from low-density lipoprotein cholesterol levels at admission in the coronary care unit]

Background: Familial hypercholesterolemia (FH) is a frequent genetic disorder that leads to premature atherosclerosis and coronary artery disease. However, knowledge of FH by cardiologists is weak, and FH remains underdiagnosed in France. FH should be suspected when low-density lipoprotein cholesterol (LDLc) levels exceed 1.9g/L (4.9mmol/L) without lipid lowering therapy.

Purpose: This multicenter retro- and prospective observational study aimed at estimating the prevalence of high LDLc levels in patients admitted in coronary care units, and the impact for the personal and familial follow-up for lipid status.

Methods: Retrospective analysis of all plasma lipid measurements performed at admission in coronary care unit of 4 hospitals in 2017. Retrospective analyses of demographic, clinical, and coronary data of consecutive patients with LDLc levels≥1.9g/L. Prospective 1 year follow-up focused on lipid levels, treatments, and personal and familial screening for FH.

Results: Lipid measurement has been performed in 2172 consecutive patients, and 108 (5%) had LDLc level≥1.9g/L (mean age 64±14 years, men 51%). The primary cause of the hospitalisation was acute coronary syndrome (78%), and 22% of patients were free off coronary artery disease. Lipid lowering therapy was present in 9% of patients at admission, and 84% at discharge, with high statins regimen. At 1-year follow-up, control of LDLc level was not performed in 20% of patients, and statin dose was decreased (36%) or withdrawn (7%) in 43%. Lipid measurement has been performed in at least one first degree relative in 37% of patients, and genetic exploration has been done for 3 patients.

Conclusions: Screening of FH in CCU should be routinely performed using the Dutch Score when LDLc is above 1.9g/L. Individual and familial management of patients at high risk for FH screened in CCU should be optimized, both for diagnosis and therapeutic purposes.