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dc.contributor.authorBalaguera Mendoza, Jose Francisco
dc.date.accessioned2021-02-22T15:59:43Z
dc.date.available2021-02-22T15:59:43Z
dc.date.issued2020
dc.identifier.urihttps://hdl.handle.net/20.500.12442/7100
dc.description.abstractLa Hipercolesterolemia Familiar (HF) es una patología autosómica dominante de una prevalencia a nivel global medida entre 1:250 y 1:600 en sujetos heterocigotos que en su presentación monogénica se ve originada principalmente en mutaciones de tres genes, LDLR, APOB y PCSK9 y que su mayor impacto fisiológico es en metabolismo de los lípidos(LDL-C) con la aparición prematura de un riesgo cardiovascular elevado representado en un proceso aterogénico temprano con formación de placa ateromatosa y eventos por enfermedad arterial coronaria prematura. La HF tiene un origen genético que desde el punto de vista médico se diagnostica mediante criterios clínicos dejando casi a un lado el diagnóstico genético molecular, es por eso que se realizó una revisión narrativa de la literatura sobre el diagnóstico de la HF por análisis genético en sujetos índice por evento cardiovascular prematuro y el tamizaje de la familia en cascada en la búsqueda de una herramienta que modifique riesgo cardiovascular de los portadores de la enfermedad. Se realizo una búsqueda en PUBMED utilizando como primer filtro el término Hipercolesterolemia Familiar, que como resultado inicial arrojó 3.569 publicaciones y al agregar el segundo filtro para la detección de mutaciones redujo su número a 128 publicaciones; el tercer filtro fue agregar el término de tamizaje por cascada lo que redujo a 28 publicaciones y por último se filtraron las publicaciones por año entre 2010 y 2020 encontrando un total de 25 publicaciones que, al aplicar los criterios de inclusión y exclusión definidos , solo 7 documentos fueron escogidos para su revisión y análisis. La población de sujetos que conformó la muestra analizada en los 7 documentos que quedaron para la revisión final fue de 67.160 sujetos. Se realizó la revisión de estos con el uso de criterios validados para diagnóstico como el DLCN (Dutch Lipid Clinic Network), encontrando que su sensibilidad y especificidad mejoró al complementarse con el diagnóstico de laboratorio genético, el tamizaje en cascada y esto analiza de una mejor forma el riesgo cardiovascular de los familiares portadores de la mutación causante de la HF en el caso índice, al crear la oportunidad de un mejor conocimiento genético para poder proponer una intervención médica temprana.spa
dc.description.abstractFamilial Hypercholesterolemia is an autosomal dominant disease with a worldwide prevalence measure between 1:250 to 1:600 on heterozygous subjects that on her monogenic presentation has an origen mainly on three genes LDLR, APOB and PCSK9, with the biggest physiological impact on the metabolism of lipids (LDL-C) with the premature cardio vascular risk increases mainly with an early atherogenic process and formation of atherogenic plate and coronary artery disease. Familial Hypercholesterolemia is a disease with genetic origen that from medical point of view the diagnose is made following clinical criteria’s leaving genetic testing at side, that is the reason we made a systematic review of the literature about the diagnose of FH by genetic analysis on index subjects by premature CVD and family cascade screening searching for a tool that helps on modifying the CVD risk of disease carriers. We made a PUBMED search using initially the Familial Hypercholesterolemia with a result of 3.569 publications, then we made an advance search using the term mutation detection and refine the search to 125, finally we add the term cascade screening leaving 28 documents, a final filter was set on articles between 2010 and 2020 leaving only 25 documents, after applying inclusion and exclusion criteria’s 7 articles were left for analysis, the total subjects that made the universe of the 7 articles studied was 67160. After the review we conclude that the use of validated clinical criteria’s like DLCN (Dutch Lipid Clinic Network), sensibility and specificity improve by using the genetic testing, the cascade screening decrease the CVD risk on relatives carrying the mutation of FH on index case by creating the opportunity of an earlier medical intervention.eng
dc.format.mimetypepdfspa
dc.language.isospaspa
dc.publisherEdiciones Universidad Simón Bolívarspa
dc.publisherFacultad de Ciencias Básicas y Biomédicasspa
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.subjectHipercolesterolemia familiarspa
dc.subjectMonogénicaspa
dc.subjectRiesgo cardiovascularspa
dc.subjectCaso índicespa
dc.subjectTamizaje en cascadaspa
dc.subjectMutaciónspa
dc.subjectFamilial hypercholesterolemiaeng
dc.subjectMonogeniceng
dc.subjectCardiovascular riskeng
dc.subjectIndex caseeng
dc.subjectCascade screeningeng
dc.subjectMutationeng
dc.titleRevisión bibliográfica cualitativa sobre el uso del diagnóstico en cascada con confirmación por pruebas genéticas para la Hipercolesterolemia familiar y su utilización como marcador predictivo de enfermedad cardiovascularspa
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sb.sedeSede Barranquillaspa
sb.programaMaestría en Genéticaspa
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