Abstract

Background 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. Purposes The aim of this study was to assess the prevalence and impact on outcome of possible HeFH in patients admitted for STEMI. Methods Lipid profiling was performed in consecutive STEMI patients admitted at the Pitie-Salpetriere 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. Results 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 ± 0.41 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 Fig. 1 ). Conclusion 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.

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