{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T19:25:17Z","timestamp":1790796317676,"version":"4.1.0"},"reference-count":40,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,3,25]],"date-time":"2018-03-25T00:00:00Z","timestamp":1521936000000},"content-version":"vor","delay-in-days":24,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Cardiology"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Familial hypercholesterolemia (FH) is a common autosomal dominant disease associated with premature coronary heart disease (CHD). Studies tend to show that patients with FH associated with an identified mutation (mutation+ FH) are at higher risk than patients without an identified mutation (mutation\u2013 FH). We compared the clinical and biological profile and the risk of CHD in patients with mutation+ FH and mutation\u2013 FH.<\/jats:p><\/jats:sec><jats:sec><jats:title>Hypothesis<\/jats:title><jats:p>In addition to LDL\u2010C, a pathogenic mutation predicts premature CHD in FH.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We successively included all patients with suspected FH (LDL\u2010C\u2009&gt;\u2009190\u2009mg\/dL if age\u2009&gt;\u200918\u2009years; LDL\u2010C\u2009&gt;\u2009160\u2009mg\/dL if age\u2009&lt;\u200918\u2009years) and compared patients with a pathogenic mutation with those without an identified pathogenic mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We studied 179 patients with mutation+ FH and 147 with mutation\u2013 FH. The mean age was 44 (\u00b1 18) years. The lipid profile was more atherogenic in those with mutation+ FH, who had higher LDL\u2010C (254\u2009\u00b1\u200969\u2009mg\/dL vs 218\u2009\u00b1\u200935\u2009mg\/dL; <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.01) and lower HDL\u2010C (53\u2009\u00b1\u200914\u2009mg\/dL vs 58\u2009\u00b1\u200917\u2009mg\/dL; <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.01). Despite the more atherogenic nonlipid cardiovascular profile of patients with mutation\u2013 FH, the age of CHD onset was earlier in patients with mutation+ FH (48 vs 56\u2009years; <jats:italic>P<\/jats:italic>\u2009=\u20090.026). After multiple adjustment, the presence of a positive mutation was significantly associated with premature CHD (OR: 3.0, 95% CI: 1.38\u20106.55, <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.01).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Patients with mutation+ FH have a more atherogenic lipid profile and a 3\u2010fold higher risk of premature CHD, as well as earlier onset of CHD, than patients with mutation\u2013 FH.<\/jats:p><\/jats:sec>","DOI":"10.1002\/clc.22881","type":"journal-article","created":{"date-parts":[[2018,3,25]],"date-time":"2018-03-25T15:41:01Z","timestamp":1521992461000},"page":"385-391","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Genetic diagnosis of familial hypercholesterolemia is associated with a premature and high coronary heart disease risk"],"prefix":"10.1002","volume":"41","author":[{"given":"Florent","family":"S\u00e9guro","sequence":"first","affiliation":[{"name":"Department of Epidemiology, Health Economics and Public Health UMR 1027 INSERM\u2013Universit\u00e9 Toulouse 3  Toulouse France"},{"name":"Department of Cardiology Toulouse\u2010Rangueil University Hospital, Toulouse University School of Medicine  Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Pierre","family":"Rab\u00e8s","sequence":"additional","affiliation":[{"name":"Service de Biochimie et G\u00e9n\u00e9tique Mol\u00e9culaire, AP\u2010HP H\u00f4pitaux Universitaires Paris Ile\u2010de\u2010France Ouest  Boulogne\u2010Billancourt France"},{"name":"UFR des Sciences de la Sant\u00e9 Simone Veil Universit\u00e9 Versailles Saint\u2010Quentin\u2010en\u2010Yvelines  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