Prevalence Of familial hypercholeSTerolaemia (FH) in Italian Patients with coronary artERy disease : The POSTER study
Articolo
Data di Pubblicazione:
2020
Citazione:
Prevalence Of familial hypercholeSTerolaemia (FH) in Italian Patients with coronary artERy disease : The POSTER study / M.M. Gulizia, A.P. Maggioni, M.G. Abrignani, C. Bilato, F. Mangiacapra, F.A. Sanchez, G. Piovaccari, L. Montagna, M. Marini, M. De Biasio, M. Averna, M. Casula, F. Colivicchi, G. Fabbri, D. Lucci, V. Zampoleri, A.L. Catapano. - In: ATHEROSCLEROSIS. - ISSN 0021-9150. - 308(2020), pp. 32-38. [10.1016/j.atherosclerosis.2020.07.007]
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Coronary artery disease; Coronary revascularization; Dutch lipid clinic network; Familial hypercholesterolemia; Low-density lipoprotein cholesterol; Myocardial infarction
Elenco autori:
M.M. Gulizia, A.P. Maggioni, M.G. Abrignani, C. Bilato, F. Mangiacapra, F.A. Sanchez, G. Piovaccari, L. Montagna, M. Marini, M. De Biasio, M. Averna, M. Casula, F. Colivicchi, G. Fabbri, D. Lucci, V. Zampoleri, A.L. Catapano
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