{"id":4647,"date":"2025-02-27T05:59:14","date_gmt":"2025-02-27T04:59:14","guid":{"rendered":"https:\/\/rvh-synergie.org\/actualites\/les-scientifiques-analysent-de-multiples-variantes-genetiques-du-syndrome-de-la-chilomicronemie-familiale-une-maladie-ultrarare\/"},"modified":"2025-02-27T05:59:21","modified_gmt":"2025-02-27T04:59:21","slug":"les-scientifiques-analysent-de-multiples-variantes-genetiques-du-syndrome-de-la-chilomicronemie-familiale-une-maladie-ultrarare","status":"publish","type":"post","link":"https:\/\/rvh-synergie.org\/actualites\/les-scientifiques-analysent-de-multiples-variantes-genetiques-du-syndrome-de-la-chilomicronemie-familiale-une-maladie-ultrarare\/","title":{"rendered":"Les scientifiques analysent de multiples variantes g\u00e9n\u00e9tiques du syndrome de la chilomicron\u00e9mie familiale, une maladie ultrarare"},"content":{"rendered":"
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Le syndrome de la chilomicron\u00e9mie familiale (FCS) est une maladie g\u00e9n\u00e9tique qui provoque une accumulation persistante de triglyc\u00e9rides dans le sang – plus de 10 fois plus \u00e9lev\u00e9 que la normale. Les principaux sympt\u00f4mes sont des douleurs abdominales graves et des \u00e9pisodes fr\u00e9quents de pancr\u00e9atite (inflammation s\u00e9v\u00e8re du pancr\u00e9as). Avec une pr\u00e9valence de 1 ou 2 cas par million d’habitants, il est consid\u00e9r\u00e9 comme une maladie ultrarare et sous-diagnostiqu\u00e9e car elle est inconnue et difficile \u00e0 diagnostiquer.<\/p>\n

Une \u00e9quipe dirig\u00e9e par des chercheurs de l’Universit\u00e9 de Malaga a men\u00e9 une \u00e9tude multidisciplinaire dans laquelle plusieurs variantes g\u00e9n\u00e9tiques qui proviennent de l’alt\u00e9ration lipidique caus\u00e9e par cette pathologie ont \u00e9t\u00e9 identifi\u00e9es et analys\u00e9es en utilisant des crit\u00e8res standard pour la premi\u00e8re fois. Les r\u00e9sultats de ce travail ont \u00e9t\u00e9 r\u00e9cemment publi\u00e9s dans G\u00e9n\u00e9tique en m\u00e9decine<\/i>.<\/p>\n

Comme l’a soulign\u00e9 Mar\u00eda Jos\u00e9 Ariza, chercheur du Laboratoire des lipides et art\u00e9rioscl\u00e9rose du Centre de recherche sur la sant\u00e9 et m\u00e9dicale (CIMES) de l’UMA, cette constatation est essentielle au diagnostic clinique et, par cons\u00e9quent, ayant acc\u00e9d\u00e9 au seul traitement pharmacologique actuellement disponible pour cette maladie, qui enregistre uniquement cinquante cas diagnostiqu\u00e9s en Espagne.<\/p>\n

Pr\u00e9cision diagnostique<\/h2>\n

\u00ab\u00a0Sur la base des directives ACMG-AMP, qui sont les normes internationalement accept\u00e9es pour l’\u00e9valuation des \u00e9tudes g\u00e9n\u00e9tiques, nous avons r\u00e9ussi \u00e0 \u00e9tablir des recommandations pr\u00e9cises qui permet d’identifier les variantes pathog\u00e8nes, c’est-\u00e0-dire des variantes qui causent SQF\u00a0\u00bb, explique le chercheur de l’Universit\u00e9 de Malaga. \u00ab\u00a0En d’autres termes, nous avons sp\u00e9cifi\u00e9 quels crit\u00e8res d’\u00e9valuation devraient \u00eatre appliqu\u00e9s \u00e0 ces variantes et pourquoi, toujours bas\u00e9 sur des preuves scientifiques et cliniques\u00a0\u00bb, ajoute-t-elle.<\/p>\n

Cette \u00e9tude a commenc\u00e9 en 2018 avec le recrutement des patients: un total de 245 avec des taux de triglyc\u00e9rides sanguins bien au-dessus de la normale. Sur la base des informations cliniques fournies par des h\u00f4pitaux de diff\u00e9rentes parties du pays qui ont contribu\u00e9 \u00e0 l’\u00e9tude, des \u00e9tudes biochimiques et g\u00e9n\u00e9tiques ont \u00e9t\u00e9 men\u00e9es \u00e0 l’UMA dans le but d’identifier les personnes affect\u00e9es par ce syndrome.<\/p>\n

Conscience<\/h2>\n

La sensibilisation \u00e0 cette maladie est un autre objectif de cette recherche qui, en bref, vise \u00e0 am\u00e9liorer la qualit\u00e9 de vie des patients qui, en plus de faire face \u00e0 l’ignorance d’une maladie ultraare, ont la difficult\u00e9 suppl\u00e9mentaire d’\u00eatre forc\u00e9e de r\u00e9duire les graisses dans leur alimentation au minimum, l’origine de l’accumulation de triglyc\u00e9rides dans leur sang.<\/p>\n

Actuellement, pour les patients atteints de SQF, il existe un traitement tr\u00e8s restrictif et efficace, ce qui n\u00e9cessite une confirmation de la maladie par le biais d’une \u00e9tude g\u00e9n\u00e9tique pour la prescription m\u00e9dicale. Par cons\u00e9quent, \u00ab\u00a0ce travail est \u00e9galement un pas en avant pour \u00e9tendre son utilisation, car il aide \u00e0 confirmer le diagnostic chez plus de patients\u00a0\u00bb.<\/p>\n

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Le syndrome de la chilomicron\u00e9mie familiale (FCS) est une maladie g\u00e9n\u00e9tique qui provoque une accumulation<\/p>\n","protected":false},"author":1,"featured_media":4648,"comment_status":"closed","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[86],"tags":[2583,4239,3294,675,49,248,4238,97,283,4240,47,2367],"class_list":["post-4647","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-les-maladies","tag-analysent","tag-chilomicronemie","tag-familiale","tag-genetiques","tag-les","tag-maladie","tag-multiples","tag-scientifiques","tag-syndrome","tag-ultrarare","tag-une","tag-variantes","generate-columns","tablet-grid-50","mobile-grid-100","grid-parent","grid-50","resize-featured-image"],"yoast_head":"\nLes scientifiques analysent de multiples variantes g\u00e9n\u00e9tiques du syndrome de la chilomicron\u00e9mie familiale, une maladie ultrarare - RVH-Synergie.org<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/rvh-synergie.org\/actualites\/les-scientifiques-analysent-de-multiples-variantes-genetiques-du-syndrome-de-la-chilomicronemie-familiale-une-maladie-ultrarare\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Les scientifiques analysent de multiples variantes g\u00e9n\u00e9tiques du syndrome de la chilomicron\u00e9mie familiale, une maladie ultrarare - 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