Heterozygous Familial Hypercholesterolemia (HeFH) is an underdiagnosed form of dyslipidemia associated with higher risk of myocardial infarction (MI) as first clinical manifestation of the disease. Identifying patients with HeFH during hospitalization for a ST segment elevation MI (STEMI) would allow counselling, family screening and more aggressive dyslipidemia treatment. Data on prognosis of HeHF patients after an index STEMI is lacking.

The aim of this study was to assess the prevalence and impact on outcome of possible HeFH in patients admitted for STEMI.

Lipid profiling was performed in consecutive STEMI patients admitted at the Pitié-Salpêtrière Center (Paris, France), with two separate measurements, one performed on the arterial blood on arrival in the cath-lab for primary PCI and the second from venous puncture after a fasting period during hospitalization. A possible HEFH was defined by the Dutch Lipid Clinic Score from the medical history of patients and LDL-cholesterol level. A score≥3 defined a possible HEFH. Major ischemic events and mortality were assessed at one-year follow-up.

Among 1788 consecutive MI patients, the diagnosis of possible HeFH was reached in 12.0% (215) patients. There was no significant difference between LDL-cholesterol measured on admission on anticoagulated arterial blood and non-anticoagulated venous blood after a fasting period: 1.18±0.41g/dL vs 1.17±0.48g/dL; P=0.76.

HeFH patients were younger (50.6±10.1 vs 65.5±13.2 years; P<0.001), more frequently male (81.5% vs 75.2%; P=0.03), had more frequent familial history of coronary artery disease (65.1% vs 14.1%; P<0.001) and had lower rate of prior myocardial infarction (10.7% vs 20.3%; P<0.001) as compared to patients with unlikely HeFH (Dutch Lipid Clinic Score<3). The median LDL-cholesterol was higher in patients with possible HeFH (1.4 [1.18–1.65] vs 1.1 [0,84–1.33] g/dL; P<0.001). Discharge treatment by high-dose statin was more frequent for patient with possible HeFH: 92.6% vs 85.1% (P=0.012). At one-year, the mortality rate was lower in patients with possible HeFH: 4.35% vs 12.56%; HR=1,9 [2.23–3.16]; P=0.04 (Fig. 1).

HeFH is frequent in STEMI patients when screened with the Dutch Lipid Clinic Score and allow the characterization of a potentially higher risk population. The better prognosis of these patients may be related to their young age and more aggressive treatment for dyslipidemia.