Impact of heterozygous familial hypercholesterolemia on mortality in ST-segment elevation Myocardial Infarction patients

Abstract

Heterozygous Familial Hypercholesterolemia (HeFH) is an underdiagnosed form of dyslipidemia associated with higher risk of myocardial infarction (MI). Identifying patients with possible HeFH would allow family screening and more aggressive treatment. The aim of this study was to assess the prevalence and impact on outcomes of possible HeFH in ST segment Elevation MI (STEMI) patients. Lipid profiling was performed in consecutive STEMI patients admitted at the Pitié-Salpêtrière Center, with two measurements, one performed on the arterial blood on arrival in the cath-lab and the second after a fasting period during hospitalization. A possible HEFH was defined by a Dutch Lipid Clinic Score ≥ 3, calculated from medical history and LDL-cholesterol. Major ischemic events and mortality were assessed at one-year. Among 1788 consecutive MI patients, the diagnosis of possible HeFH was reached in 12% of 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 ± 0.41 g/dL vs. 1.17 ± 0.48 g/dL; P = 0.76). HeFH patients were younger (50.6 ± 10.1 vs. 65.5 ± 13.2 years; P < 0.001), had more frequent familial history of coronary artery disease (65.1% vs. 14.1%; P < 0.001) and had lower rate of prior MI (10.7% vs. 20.3%; P < 0.001). The median LDL-cholesterol was higher and discharge treatment by high-dose statin was more frequent in patients with possible HeFH (respectively: 1.4 [1.18–1.65] vs. 1.1 [0.84–1.33] g/dL; P < 0.001 and 92.6% vs. 85.1% [ P = 0.012]). At one-year, the mortality rate was lower in patients with possible HeFH (4.3% vs. 12.6%; HR = 1.9 [2.23–3.16]; P = 0.04) ( Fig. 1 ). Possible HeFH is frequent in STEMI patients when screened with the Dutch Lipid Clinic Score that allows characterization of a potentially higher risk population. The better prognosis of these patients may be related to their young age and more aggressive treatment.