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  • Title: Prevalence Of familial hypercholeSTerolaemia (FH) in Italian Patients with coronary artERy disease: The POSTER study.
    Author: Gulizia MM, Maggioni AP, Abrignani MG, Bilato C, Mangiacapra F, Sanchez FA, Piovaccari G, Montagna L, Marini M, De Biasio M, Averna M, Casula M, Colivicchi F, Fabbri G, Lucci D, Zampoleri V, Catapano AL, POSTER Investigators.
    Journal: Atherosclerosis; 2020 Sep; 308():32-38. PubMed ID: 32823190.
    Abstract:
    BACKGROUND AND AIMS: Familial hypercholesterolaemia (FH) is a powerful risk factor for cardiovascular (CV) events. High levels of low-density lipoprotein cholesterol (LDL-C) since birth are linked to the early onset of atherosclerotic disease. A genetic mutation determining FH is present in about one subject out of 250; FH should be more represented among subjects with a documented diagnosis of coronary artery disease (CAD). The POSTER Study evaluated the prevalence of FH in Italian patients with a recent CAD event. METHODS: Eighty-two cardiology centres enrolled patients with a documented CAD event; CV risk profile, drug therapy and biochemical parameters were collected. Dutch Lipid Clinic Network (DLCN) criteria were used to define patients with a potential FH diagnosis (score ≥6); these patients underwent molecular testing for genetic diagnosis of FH. RESULTS: Overall, 5415 patients were enrolled and the main index events were myocardial infarction with ST-elevation, non ST-elevation acute coronary syndrome (ACS), or a recent coronary revascularization (34.8%, 37.2%, and 28% respectively). Mean age was 66 ± 11 years, men were 78%; about 40% were already treated with statins, proportion that increased after the acute event (96.5%). Based on the DLCN score, the prevalence of potential FH was 5.1%, 0.9% of them had a diagnosis of definite FH (score >8). These patients were younger than patients with a score <6 (56 ± 10 vs 66 ± 11, p < 0.001), and LDL-C levels were in most of them (~87%) >190 mg/dL. FH was genetically confirmed in 42 subjects (15.9%); genetic diagnosis was defined as not conclusive for FH in 63 patients (23.9%). Finally, in 159 subjects (60.2%) no pathogenic mutations in the tested genes were identified, defining them as negative for monogenic familial hypercholesterolemia. CONCLUSIONS: Results underscore a relatively high prevalence of potential FH in patients with a recent CAD event. Therefore, an early identification of these subjects may help improve the management of their high CV risk and, by cascade screening, identify possible FH relatives.
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