{"id":40850,"date":"2020-01-14T10:43:52","date_gmt":"2020-01-14T09:43:52","guid":{"rendered":"https:\/\/dev.93-93-113-41.plesk.page\/serveis\/estudi-genetic-preventiu\/lipid-incode\/"},"modified":"2024-06-03T11:58:12","modified_gmt":"2024-06-03T09:58:12","slug":"lipid-incode","status":"publish","type":"page","link":"https:\/\/dev.93-93-113-41.plesk.page\/ca\/serveis\/estudi-genetic-preventiu\/lipid-incode\/","title":{"rendered":"Lipid inCode"},"content":{"rendered":"<div class=\"entry-content\">\n<p><strong>La Hipercolesterol\u00e8mia Familiar \u00e9s un trastorn gen\u00e8tic freq\u00fcent, que es manifesta per nivells elevats de colesterol LDL en sang.<\/strong><\/p>\n<p>Les persones amb aquesta patologia s\u00f3n considerades pacients d\u2019alt risc cardiovascular, donat que solen presentar malalties cardiovasculars prematures (&lt;55 anys), com infart de miocardi o ictus.<\/p>\n<p>La possibilitat del diagn\u00f2stic preco\u00e7 d\u2019aquesta malaltia permet instaurar un tractament personalitzat per alentir el seu avan\u00e7.<\/p>\n<h2>Quins avantatges t\u00e9 con\u00e8ixer el perfil gen\u00e8tic?<\/h2>\n<p>El diagn\u00f2stic gen\u00e8tic \u00e9s l\u2019\u00fanic mitj\u00e0 definitiu per confirmar la pres\u00e8ncia de la Hipercolesterol\u00e8mia Familiar.<\/p>\n<p>No nom\u00e9s estableix el diagn\u00f2stic definitu de la malaltia, sino que possibilita la identificaci\u00f3 d\u2019altres familiars afectats.<\/p>\n<p>A m\u00e9s, aporta dades pel tractament cl\u00ednic dels pacients sigui el diagn\u00f2stic gen\u00e8tic positiu o negatiu per Hipercolesterol\u00e8mia Familiar.<\/p>\n<h2>Quins resultats ofereix?<\/h2>\n<p><strong>Lipid inCode<\/strong> analitza els gens d\u2019inter\u00e8s lligats a Hipercolesterol\u00e8mia Familiar, Hipercolesterol\u00e8mia Autos\u00f2mica Recessiva i Defici\u00e8ncia en Lipasa \u00c0cida lisosomal, i els caracteritza a nivell funcional.<\/p>\n<p>A m\u00e9s, analitza tamb\u00e9:<\/p>\n<ul>\n<li>Farmacogen\u00e8tica: resposta a la simvastatina<\/li>\n<li>Risc gen\u00e8tic cardiovascular<\/li>\n<li>Hipercolesterol\u00e8mia de causa polig\u00e8nica<\/li>\n<li>Risc d\u2019alts nivells plasm\u00e0tics de Lp(a)<\/li>\n<\/ul>\n<p>Gr\u00e0cies a aquesta visi\u00f3 m\u00e9s \u00e0mplia, el metge especialista adapta de manera personalitzada el tractament del pacient per aconseguir millors resultats, podent identificar amb m\u00e9s precisi\u00f3 el risc cardiovascular i evidenciar una hipercolesterol\u00e8mia prim\u00e0ria encara que el diagn\u00f2stic gen\u00e8tic dels gens cl\u00e0ssics sigui negatiu.<\/p>\n<h2>Com es realitza un test gen\u00e8tic?<\/h2>\n<p>Per realitzar aquesta prova i obtenir el perfil gen\u00e8tic, \u00e9s suficient amb una simple mostra de saliva.<\/p>\n<p>Les proves gen\u00e8tiques s\u2019han de fer sempre en serveis m\u00e8dics que garanteixin la qualitat del servei i sota recomanaci\u00f3 m\u00e8dica.<\/p>\n<p>No suposa cap risc per al pacient i com en qualsevol altra prova, les dades m\u00e8diques recollides s\u00f3n de car\u00e0cter confidencial i estan protegides segons la legislaci\u00f3 vigent.<\/p>\n<h2>An\u00e0lisi de Familiars per al diagn\u00f2stic de la Hipercolesterol\u00e8mia Familiar<\/h2>\n<p>En el cas que, a la primera persona d\u2019una fam\u00edlia en analitzar (anomenat Cas \u00cdndex), s\u2019hagi identificat una o diverses variants gen\u00e8tiques d\u2019inter\u00e8s, es recomana fer sempre un diagn\u00f2stic en cascada familiar.<\/p>\n<p>Els prop\u00f2sits de la cascada familiar s\u00f3n els seg\u00fcents:<\/p>\n<ul>\n<li>Si la variant gen\u00e8tica \u00e9s patog\u00e8nica, \u00e9s a dir, causant de la malaltia estudiada, es tracta d\u2019identificar a d\u2019altres membres de la familiar portadors de la mateixa variant. Aix\u00ed, un cop identificats, podran ser atesos per un metge especialista que establir\u00e0 les mesures i el seguiment adequat per al seu cas.<\/li>\n<li>En una altra situaci\u00f3, el Cas \u00cdndex pot ser portador d\u2019una variant gen\u00e8tica de significat incert, \u00e9s a dir que no s\u2019ha pogut establir de manera definitiva que aquesta variant sigui causant de la malaltia estudiada. En aquest cas, es realitzar\u00e0 la cascada familiar per a identificar d\u2019altres familiars portadors d\u2019aquesta variant i estudiar si presenten o no manifestacions de la malaltia. Aix\u00f2 ajuda a entendre millor l\u2019impacte de la variant gen\u00e8tica de significat incert en el desenvolupament de la malaltia i permet tamb\u00e9 fer un seguiment m\u00e8dic proper dels familiars portadors d\u2019aquella variant.<\/li>\n<\/ul>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<div class=\"mh-excerpt\"><p>La Hipercolesterol\u00e8mia Familiar \u00e9s un trastorn gen\u00e8tic freq\u00fcent, que es manifesta per nivells elevats de colesterol LDL en sang. Les persones amb aquesta patologia s\u00f3n considerades pacients d\u2019alt risc cardiovascular, donat que solen presentar malalties <a class=\"mh-excerpt-more\" href=\"https:\/\/dev.93-93-113-41.plesk.page\/ca\/serveis\/estudi-genetic-preventiu\/lipid-incode\/\" title=\"Lipid inCode\">[&#8230;]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":36846,"parent":7498,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-40850","page","type-page","status-publish","has-post-thumbnail"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.6 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Lipid inCode - Servidigest<\/title>\n<meta name=\"description\" content=\"El test gen\u00e9tico Lipid inCode es es el \u00fanico medio definitivo para confirmar la presencia de la Hipercolesterolemia Familiar.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/dev.93-93-113-41.plesk.page\/ca\/serveis\/estudi-genetic-preventiu\/lipid-incode\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Lipid inCode - 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