Abstract

Individuals with heterozygous familial hypercholesterolemia (FH) are at high risk of early myocardial infarction (MI). However, coronary artery disease (CAD) burden of FH remains not well described, especially for French patients. The objective of this study was to assess the prevalence of FH and severity of CAD from a large database of a French regional registry of acute MI. All consecutive patients hospitalized for an acute MI in a multicenter database from 2001 to 2017 were considered. FH was diagnosed using an algorithm adapted from the Dutch Lipid Clinic Network criteria. The prevalence and clinical features of FH and the severity of CAD were assessed. Among the 11,624 patients included in the study, the proportion of "probable/definite", "possible", and "unlikely" FH in patients with MI was 2.1% (n=249), 20.7% (n=2405), and 77.2% (n=8970), respectively. When compared with patients with "unlikely" FH, patients with "probable/definite" FH were 20years younger (51 vs 71, P<.001), with a lower rate of diabetes (17% vs 25%, P=.007) and a higher prevalence of personal and familial history of CAD. Chronic statin treatment was only used in 48% of FH patients and ezetimibe in 8%. After adjustment for age, sex, and diabetes, patients with FH were characterized by increased extent of CAD (SYNTAX score 11 vs 7, P<.001) and multivessel disease (55% vs 40%, P<.001). In this large cohort of French individuals, FH was common in patients with MI, associated with markedly early age of MI and severity of CAD burden and limited use of preventive lipid-lowering therapy.

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