BACKGROUND

Familial hypercholesterolemia (FH) is a hereditary disease carrying a substantial lifetime risk of coronary heart disease.

OBJECTIVE

To assess the prevalence of FH and its impact on age at presentation among unselected patients with first myocardial infarction (MI).

METHODS

In a multi-center cross sectional study, we identified 1381 unselected patients presenting with a first MI between 2010 and 2012. Clinical FH was assessed using both the Dutch Lipid Clinic Network (DLCN) criteria and the Simon Broome criteria.

RESULTS

Based on the DLCN criteria, 2.0% of patients with first MI had "probable/definite" FH, whereas 4.7% had "possible" FH according to the Simon Broome criteria. In the 291 (21%) patients with premature MI, 6.9% had "probable/definite" FH (DLCN criteria), and 11.0% had "possible" FH (Simon Broome criteria). Nearly all premature "probable/definite" and "possible" FH patients had at least one additional marker of high cardiovascular risk including current smoking (72%-80%) and hypertension (40%-44%). In multivariable-adjusted linear regression modeling, patients with "probable/definite" FH using DLCN criteria had their first MI 14.6 years (95% confidence interval [CI], 9.6-19.6 years) earlier than non-FH patients. Likewise, "possible" FH patients using Simon Broome criteria were associated with having an MI 9.1 years (95% CI = 6.3-12.4) earlier than non-FH patients.

CONCLUSION

Clinical FH is common and associated with markedly earlier age of first MI, especially when combined with additional markers of high risk, indicating an unmet need for earlier identification of FH to ensure global risk factor control. First MI constitutes a unique opportunity to detect families with unknown FH.