{"id":7420,"date":"2026-01-15T10:24:19","date_gmt":"2026-01-15T09:24:19","guid":{"rendered":"https:\/\/reseau-amylose.org\/jesuissoignant\/?page_id=7420"},"modified":"2026-05-14T15:41:30","modified_gmt":"2026-05-14T13:41:30","slug":"test-genetique-apparente-amylose","status":"publish","type":"page","link":"http:\/\/reseau-amylose.org\/jesuissoignant\/test-genetique-apparente-amylose\/","title":{"rendered":"Faire un test g\u00e9n\u00e9tique chez un apparent\u00e9"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-page\" data-elementor-id=\"7420\" class=\"elementor elementor-7420\" data-elementor-post-type=\"page\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-012e294 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"012e294\" data-element_type=\"section\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-be15054\" data-id=\"be15054\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-c9f51a6 elementor-widget elementor-widget-heading\" data-id=\"c9f51a6\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h1 class=\"elementor-heading-title elementor-size-default\">Conseil g\u00e9n\u00e9tique et test g\u00e9n\u00e9tique chez les apparent\u00e9s d'un patient ATTRv\n<\/h1>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-4d29d1a elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"4d29d1a\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-28fc061\" data-id=\"28fc061\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap\">\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-6c0094a elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"6c0094a\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-71a9556\" data-id=\"71a9556\" data-element_type=\"column\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-4309f72 elementor-widget elementor-widget-text-editor\" data-id=\"4309f72\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Lorsqu&rsquo;une amylose \u00e0 transthyr\u00e9tine h\u00e9r\u00e9ditaire (ATTRv) est confirm\u00e9e chez un patient \u2014 appel\u00e9\u00a0<strong>cas index<\/strong>\u00a0\u2014, un conseil g\u00e9n\u00e9tique doit \u00eatre propos\u00e9 aux membres adultes de sa famille. Cette d\u00e9marche leur permet de d\u00e9cider, librement et en connaissance de cause, de r\u00e9aliser ou non un test g\u00e9n\u00e9tique. Elle se d\u00e9roule dans les centres sp\u00e9cialis\u00e9s r\u00e9f\u00e9renc\u00e9s par le\u00a0<strong>R\u00e9seau Amylose<\/strong>.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-f2e0fa2 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"f2e0fa2\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-bb78d85\" data-id=\"bb78d85\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap\">\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-30de4f7 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"30de4f7\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-9c85469\" data-id=\"9c85469\" data-element_type=\"column\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-b7fd3c9 elementor-widget elementor-widget-text-editor\" data-id=\"b7fd3c9\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<div class=\"ra-keypoints__title\"><strong><span style=\"color: #ff0000\">Points cl\u00e9s pour les professionnels de sant\u00e9<\/span><\/strong><\/div><ul><li>Conseil g\u00e9n\u00e9tique indiqu\u00e9 pour tous les\u00a0<strong>apparent\u00e9s adultes<\/strong>\u00a0d&rsquo;un cas index porteur d&rsquo;une mutation TTR pathog\u00e8ne.<\/li><li>Priorit\u00e9 aux\u00a0<strong>apparent\u00e9s au premier degr\u00e9<\/strong>\u00a0: parents, fratrie, enfants.<\/li><li>Risque de transmission de\u00a0<strong>50\u00a0% \u00e0 chaque g\u00e9n\u00e9ration<\/strong>\u00a0(mode autosomique dominant).<\/li><li>D\u00e9marche\u00a0<strong>exclusivement volontaire<\/strong>\u00a0\u2014 le droit de ne pas savoir doit \u00eatre respect\u00e9.<\/li><li>Identification pr\u00e9coce des porteurs \u2192\u00a0<strong>suivi avant l&rsquo;apparition des sympt\u00f4mes<\/strong>.<\/li><li>Parcours en\u00a0<strong>trois consultations<\/strong>\u00a0: information \u2014 pr\u00e9l\u00e8vement \u2014 annonce.<\/li><li>Liste des centres disponible sur le site du\u00a0<strong>R\u00e9seau Amylose<\/strong>.<\/li><\/ul>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-d3fb7ab elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"d3fb7ab\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-1c83863\" data-id=\"1c83863\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-e5066a7 elementor-widget elementor-widget-heading\" data-id=\"e5066a7\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Pourquoi proposer un conseil g\u00e9n\u00e9tique \u00e0 la famille<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-ee85839 elementor-widget elementor-widget-text-editor\" data-id=\"ee85839\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>L&rsquo;amylose \u00e0 transthyr\u00e9tine h\u00e9r\u00e9ditaire se transmet selon un\u00a0<strong>mode autosomique dominant<\/strong>\u00a0: chaque enfant d&rsquo;une personne porteuse d&rsquo;une mutation pathog\u00e8ne du g\u00e8ne TTR pr\u00e9sente un risque de 50\u00a0% d&rsquo;h\u00e9riter de cette mutation.<\/p><p>Le conseil g\u00e9n\u00e9tique permet d&rsquo;identifier les apparent\u00e9s potentiellement concern\u00e9s, de leur d\u00e9livrer une information m\u00e9dicale adapt\u00e9e et d&rsquo;organiser, si n\u00e9cessaire, un d\u00e9pistage cibl\u00e9.<\/p><p>L&rsquo;identification pr\u00e9coce des porteurs d&rsquo;une mutation amylo\u00efdog\u00e8ne autorise la mise en place d&rsquo;un\u00a0<strong>suivi m\u00e9dical avant l&rsquo;apparition de tout sympt\u00f4me<\/strong>\u00a0: limitation de l&rsquo;errance diagnostique et prise en charge au stade le plus pr\u00e9coce possible, dans un contexte th\u00e9rapeutique en constante \u00e9volution.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-5e3aa3e elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"5e3aa3e\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-4242feb\" data-id=\"4242feb\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-5435b49 elementor-widget elementor-widget-heading\" data-id=\"5435b49\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">\u00c0 quels apparent\u00e9s proposer un conseil g\u00e9n\u00e9tique<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-9433a10 elementor-widget elementor-widget-text-editor\" data-id=\"9433a10\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Le conseil g\u00e9n\u00e9tique s&rsquo;adresse aux\u00a0<strong>membres adultes de la famille<\/strong>\u00a0d&rsquo;un cas index porteur d&rsquo;une mutation pathog\u00e8ne du g\u00e8ne TTR, consid\u00e9r\u00e9s comme asymptomatiques au moment de la d\u00e9marche.<\/p><p>La priorit\u00e9 est accord\u00e9e aux\u00a0<strong>apparent\u00e9s au premier degr\u00e9<\/strong>\u00a0\u2014 parents, fr\u00e8res et s\u0153urs, enfants \u2014 avant d&rsquo;envisager d&rsquo;autres membres de la famille selon la situation.<\/p><p>La d\u00e9marche repose sur une\u00a0<strong>demande exclusivement volontaire<\/strong>. Le droit de ne pas savoir constitue un principe \u00e9thique fondamental, \u00e0 respecter \u00e0 chaque \u00e9tape.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-78aa4aa elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"78aa4aa\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-c983201\" data-id=\"c983201\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-bdf5261 elementor-widget elementor-widget-heading\" data-id=\"bdf5261\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">D\u00e9roulement du conseil g\u00e9n\u00e9tique chez l\u2019apparent\u00e9<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-e93fab3 elementor-widget elementor-widget-text-editor\" data-id=\"e93fab3\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Le conseil g\u00e9n\u00e9tique se d\u00e9roule en\u00a0<strong>trois \u00e9tapes distinctes<\/strong>, dans un centre sp\u00e9cialis\u00e9 r\u00e9f\u00e9renc\u00e9 par le R\u00e9seau Amylose.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-4def1c4 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"4def1c4\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-33 elementor-top-column elementor-element elementor-element-17b9912\" data-id=\"17b9912\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-23e1cc3 elementor-widget elementor-widget-heading\" data-id=\"23e1cc3\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">1<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-66 elementor-top-column elementor-element elementor-element-c612a2f\" data-id=\"c612a2f\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-e37a040 elementor-widget elementor-widget-text-editor\" data-id=\"e37a040\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><strong>Consultation d&rsquo;information<\/strong><\/p><p>Organis\u00e9e sur une m\u00eame demi-journ\u00e9e\u00a0: consultation de g\u00e9n\u00e9tique m\u00e9dicale, consultation sp\u00e9cialis\u00e9e (notamment cardiologique) et entretien avec un psychologue. \u00c0 l&rsquo;issue, l&rsquo;apparent\u00e9 dispose de toutes les informations pour d\u00e9cider en toute autonomie.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-66e6ac9 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"66e6ac9\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-33 elementor-top-column elementor-element elementor-element-4a703b5\" data-id=\"4a703b5\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-6d5b6f1 elementor-widget elementor-widget-heading\" data-id=\"6d5b6f1\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">2<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-66 elementor-top-column elementor-element elementor-element-022ac7b\" data-id=\"022ac7b\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-29755ce elementor-widget elementor-widget-text-editor\" data-id=\"29755ce\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><strong>Pr\u00e9l\u00e8vement sanguin<\/strong><\/p><p>Si l&rsquo;apparent\u00e9 accepte, une seconde visite est consacr\u00e9e au pr\u00e9l\u00e8vement dans un cadre m\u00e9dical encadr\u00e9, en lien avec le g\u00e9n\u00e9ticien et le psychologue.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-478dc10 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"478dc10\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-33 elementor-top-column elementor-element elementor-element-2ba1ff8\" data-id=\"2ba1ff8\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-1117e9a elementor-widget elementor-widget-heading\" data-id=\"1117e9a\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">3<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-66 elementor-top-column elementor-element elementor-element-7a01252\" data-id=\"7a01252\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-63299c3 elementor-widget elementor-widget-text-editor\" data-id=\"63299c3\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p><strong>Annonce du r\u00e9sultat<\/strong><\/p><p>Troisi\u00e8me consultation d\u00e9di\u00e9e, qu&rsquo;il soit n\u00e9gatif ou positif, avec un temps d&rsquo;\u00e9change suffisant pour aborder les implications cliniques et organiser le suivi si n\u00e9cessaire.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-5a7cd1b elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"5a7cd1b\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-6e2542d\" data-id=\"6e2542d\" data-element_type=\"column\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;}\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-5920bf8 elementor-widget elementor-widget-text-editor\" data-id=\"5920bf8\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<div class=\"ra-infobox\">Prise de rendez-vous individuelle dans un centre r\u00e9alisant le conseil g\u00e9n\u00e9tique des amyloses.<\/div><div>\u00a0<\/div><div class=\"ra-infobox\"><strong>La liste des centres est disponible sur le site du R\u00e9seau Amylose.<\/strong><\/div>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-76aa3e2 elementor-align-center elementor-widget elementor-widget-button\" data-id=\"76aa3e2\" data-element_type=\"widget\" data-widget_type=\"button.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<div class=\"elementor-button-wrapper\">\n\t\t\t\t\t<a class=\"elementor-button elementor-button-link elementor-size-sm\" href=\"https:\/\/reseau-amylose.org\/soins\/reseau-amylose-national-france\/\" target=\"_blank\">\n\t\t\t\t\t\t<span class=\"elementor-button-content-wrapper\">\n\t\t\t\t\t\t\t\t\t<span class=\"elementor-button-text\">Cliquez ici<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-7409bda elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"7409bda\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-de9c9dc\" data-id=\"de9c9dc\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-836a9a5 elementor-widget elementor-widget-heading\" data-id=\"836a9a5\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Information de la famille et annonce du diagnostic<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-7a62764 elementor-widget elementor-widget-text-editor\" data-id=\"7a62764\" data-element_type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>L&rsquo;information des apparent\u00e9s incombe au\u00a0<strong>patient cas index<\/strong>, avec l&rsquo;appui de son m\u00e9decin ou du g\u00e9n\u00e9ticien r\u00e9f\u00e9rent. Cette d\u00e9marche peut \u00eatre d\u00e9licate et n\u00e9cessite souvent un accompagnement.<\/p><ul class=\"ra-list\"><li>Choisir un\u00a0<strong>moment calme et adapt\u00e9<\/strong>\u00a0pour aborder le sujet.<\/li><li>S&rsquo;assurer d&rsquo;une\u00a0<strong>bonne compr\u00e9hension<\/strong>\u00a0des informations transmises.<\/li><li>Prendre en compte les\u00a0<strong>r\u00e9actions \u00e9motionnelles<\/strong>\u00a0de chacun.<\/li><\/ul><p>Des\u00a0<strong>documents d&rsquo;aide \u00e0 l&rsquo;annonce<\/strong>\u00a0sont mis \u00e0 disposition par le R\u00e9seau Amylose pour accompagner le patient et les professionnels dans cette d\u00e9marche.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-ee33f8d elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"ee33f8d\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-fa99f5d\" data-id=\"fa99f5d\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-7e2a5d7 elementor-widget elementor-widget-heading\" data-id=\"7e2a5d7\" data-element_type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Questions fr\u00e9quentes des professionnels de sant\u00e9\nFAQ\n<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-f484678 elementor-widget elementor-widget-toggle\" data-id=\"f484678\" data-element_type=\"widget\" data-widget_type=\"toggle.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t<div class=\"elementor-toggle\">\n\t\t\t\t\t\t\t<div class=\"elementor-toggle-item\">\n\t\t\t\t\t<h4 id=\"elementor-tab-title-2561\" class=\"elementor-tab-title\" data-tab=\"1\" role=\"button\" aria-controls=\"elementor-tab-content-2561\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon elementor-toggle-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-closed\"><i class=\"fas fa-caret-right\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-opened\"><i class=\"elementor-toggle-icon-opened fas fa-caret-up\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-toggle-title\" tabindex=\"0\">Le test g\u00e9n\u00e9tique est-il obligatoire pour les apparent\u00e9s d'un porteur de mutation TTR ?<\/a>\n\t\t\t\t\t<\/h4>\n\n\t\t\t\t\t<div id=\"elementor-tab-content-2561\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"1\" role=\"region\" aria-labelledby=\"elementor-tab-title-2561\"><p><strong>Non.<\/strong>\u00a0La d\u00e9marche repose sur le\u00a0<strong>volontariat<\/strong>. Aucun apparent\u00e9 ne peut \u00eatre contraint. Le droit de ne pas savoir est un principe \u00e9thique fondamental en g\u00e9n\u00e9tique m\u00e9dicale, qui s&rsquo;applique \u00e0 chaque \u00e9tape du parcours. Le r\u00f4le du soignant est de d\u00e9livrer une information claire et \u00e9quilibr\u00e9e, sans exercer de pression.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-toggle-item\">\n\t\t\t\t\t<h4 id=\"elementor-tab-title-2562\" class=\"elementor-tab-title\" data-tab=\"2\" role=\"button\" aria-controls=\"elementor-tab-content-2562\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon elementor-toggle-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-closed\"><i class=\"fas fa-caret-right\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-opened\"><i class=\"elementor-toggle-icon-opened fas fa-caret-up\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-toggle-title\" tabindex=\"0\">Qui doit informer les membres de la famille en cas de diagnostic d'amylose h\u00e9r\u00e9ditaire ?<\/a>\n\t\t\t\t\t<\/h4>\n\n\t\t\t\t\t<div id=\"elementor-tab-content-2562\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"2\" role=\"region\" aria-labelledby=\"elementor-tab-title-2562\"><p>L&rsquo;information incombe au\u00a0<strong>patient cas index<\/strong>, avec l&rsquo;appui de son m\u00e9decin ou du g\u00e9n\u00e9ticien r\u00e9f\u00e9rent, qui peut l&rsquo;aider \u00e0 formuler le message et expliquer le mode de transmission. Des documents d&rsquo;accompagnement sont disponibles sur le site du R\u00e9seau Amylose.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-toggle-item\">\n\t\t\t\t\t<h4 id=\"elementor-tab-title-2563\" class=\"elementor-tab-title\" data-tab=\"3\" role=\"button\" aria-controls=\"elementor-tab-content-2563\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon elementor-toggle-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-closed\"><i class=\"fas fa-caret-right\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-opened\"><i class=\"elementor-toggle-icon-opened fas fa-caret-up\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-toggle-title\" tabindex=\"0\">Comment se passe le suivi d'un apparent\u00e9 porteur d'une mutation TTR mais asymptomatique ?<\/a>\n\t\t\t\t\t<\/h4>\n\n\t\t\t\t\t<div id=\"elementor-tab-content-2563\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"3\" role=\"region\" aria-labelledby=\"elementor-tab-title-2563\"><p>Un\u00a0<strong>suivi m\u00e9dical sp\u00e9cialis\u00e9<\/strong>\u00a0est organis\u00e9 par le centre expert pour d\u00e9tecter les premiers signes de la maladie au stade le plus pr\u00e9coce et permettre l&rsquo;acc\u00e8s aux traitements disponibles dans les meilleures conditions.<\/p><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<div class=\"elementor-toggle-item\">\n\t\t\t\t\t<h4 id=\"elementor-tab-title-2564\" class=\"elementor-tab-title\" data-tab=\"4\" role=\"button\" aria-controls=\"elementor-tab-content-2564\" aria-expanded=\"false\">\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon elementor-toggle-icon-left\" aria-hidden=\"true\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-closed\"><i class=\"fas fa-caret-right\"><\/i><\/span>\n\t\t\t\t\t\t\t\t<span class=\"elementor-toggle-icon-opened\"><i class=\"elementor-toggle-icon-opened fas fa-caret-up\"><\/i><\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t<a class=\"elementor-toggle-title\" tabindex=\"0\">Faut-il r\u00e9aliser un test g\u00e9n\u00e9tique chez un patient nonag\u00e9naire d\u00e9couvert porteur d'une amylose cardiaque, alors que son \u00e9tat g\u00e9riatrique rend tout traitement sp\u00e9cifique inenvisageable ?<\/a>\n\t\t\t\t\t<\/h4>\n\n\t\t\t\t\t<div id=\"elementor-tab-content-2564\" class=\"elementor-tab-content elementor-clearfix\" data-tab=\"4\" role=\"region\" aria-labelledby=\"elementor-tab-title-2564\"><p>Ces patients sont souvent diagnostiqu\u00e9s fortuitement, lors d&rsquo;une \u00e9chocardiographie pour l&rsquo;\u00e9valuation des pressions de remplissage ou le bilan d&rsquo;une dyspn\u00e9e. L&rsquo;\u00e9tat physiologique, le pronostic \u00e0 court et moyen terme, ainsi que les contraintes \u00e9thiques peuvent s&rsquo;opposer \u00e0 l&rsquo;initiation d&rsquo;un traitement stabilisateur \u2014 lequel n\u00e9cessiterait par ailleurs une scintigraphie de confirmation.<\/p><p>\u00a0<\/p><div class=\"ra-faq-sub ra-faq-sub--blue\"><h4>1. Le test g\u00e9n\u00e9tique reste indiqu\u00e9, quel que soit l&rsquo;\u00e2ge<\/h4><p>Sa justification principale n&rsquo;est pas la prise en charge du patient lui-m\u00eame, mais\u00a0<strong>celle de sa famille<\/strong>. La pr\u00e9valence des variants pathog\u00e8nes est estim\u00e9e entre 10 et 20\u00a0% dans les populations afro-carib\u00e9ennes et maghr\u00e9bines, et d\u00e9passe 5\u00a0% dans la population caucasienne sur cette tranche d&rsquo;\u00e2ge.<\/p><p>En l&rsquo;absence de test r\u00e9alis\u00e9 du vivant du patient, le d\u00e9c\u00e8s entra\u00eene in\u00e9vitablement une demande de conseil g\u00e9n\u00e9tique pour l&rsquo;ensemble des apparent\u00e9s au premier degr\u00e9 \u2014 parfois une vingtaine (trois consultations dans l&rsquo;ann\u00e9e, psychologue\u00a0+ g\u00e9n\u00e9ticien\u00a0+ cardiologue par apparent\u00e9). Il est donc m\u00e9dicalement et \u00e9conomiquement plus efficient de r\u00e9aliser un pr\u00e9l\u00e8vement avec recueil du consentement d\u00e8s \u00e0 pr\u00e9sent.<\/p><\/div><div class=\"ra-faq-sub ra-faq-sub--red\"><h4>2. La d\u00e9cision th\u00e9rapeutique s&rsquo;\u00e9value au cas par cas<\/h4><p>L&rsquo;indication d&rsquo;un traitement sp\u00e9cifique doit tenir compte du degr\u00e9 de fragilit\u00e9 du patient. Une\u00a0<strong>\u00e9valuation g\u00e9riatrique formalis\u00e9e<\/strong>\u00a0\u2014 score SEGA ou outil \u00e9quivalent \u2014 est indispensable pour objectiver cette fragilit\u00e9 et \u00e9clairer la d\u00e9cision coll\u00e9giale.<\/p><p><strong>L&rsquo;\u00e2ge seul ne saurait constituer un crit\u00e8re d&rsquo;exclusion th\u00e9rapeutique.<\/strong><\/p><\/div><div class=\"ra-faq-sub ra-faq-sub--green\"><h4>3. Le recours \u00e0 un centre expert est vivement recommand\u00e9<\/h4><p>Conform\u00e9ment aux recommandations de la HAS, toute situation complexe doit faire l&rsquo;objet d&rsquo;une discussion avec un centre de r\u00e9f\u00e9rence ou de comp\u00e9tence.<\/p><p>Le parcours de soins complet est disponible\u00a0:\u00a0<a href=\"https:\/\/reseau-amylose.org\/jesuissoignant\/pnds-amyloses-cardiaques\/\" target=\"_blank\" rel=\"noopener\">Parcours de soins HAS \u2013 Amyloses cardiaques<\/a>.<\/p><\/div><\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-a7b9178 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"a7b9178\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-25 elementor-top-column elementor-element elementor-element-e2555dc\" data-id=\"e2555dc\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap\">\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-25 elementor-top-column elementor-element elementor-element-b164310\" data-id=\"b164310\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-8debeab elementor-widget elementor-widget-image\" data-id=\"8debeab\" data-element_type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<a href=\"https:\/\/reseau-amylose.org\/jesuissoignant\/wp-content\/uploads\/sites\/5\/2026\/01\/Triptyque-CAS-INDEX-Conseil-genetique-2024-TD2-08_12_2024-SO-1.pdf\" target=\"_blank\">\n\t\t\t\t\t\t\t<img fetchpriority=\"high\" decoding=\"async\" width=\"700\" height=\"486\" src=\"http:\/\/reseau-amylose.org\/jesuissoignant\/wp-content\/uploads\/sites\/5\/2026\/01\/annonce-genetique-apparente.jpg\" class=\"attachment-large size-large wp-image-7460\" alt=\"faire-un test-genetique-chez-un-apparente-reseau-amylose\" srcset=\"http:\/\/reseau-amylose.org\/jesuissoignant\/wp-content\/uploads\/sites\/5\/2026\/01\/annonce-genetique-apparente.jpg 700w, http:\/\/reseau-amylose.org\/jesuissoignant\/wp-content\/uploads\/sites\/5\/2026\/01\/annonce-genetique-apparente-300x208.jpg 300w\" sizes=\"(max-width: 700px) 100vw, 700px\" \/>\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-25 elementor-top-column elementor-element elementor-element-fc350fa\" data-id=\"fc350fa\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-eb2b475 elementor-widget elementor-widget-image\" data-id=\"eb2b475\" data-element_type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<a href=\"https:\/\/www.reseau-amylose.org\/docuser\/storage\/sites\/13\/2020\/09\/TRIPTYQUE-Conseil-ge%CC%81ne%CC%81tique-Sept2020.pdf\" target=\"_blank\">\n\t\t\t\t\t\t\t<img decoding=\"async\" width=\"650\" height=\"486\" src=\"http:\/\/reseau-amylose.org\/jesuissoignant\/wp-content\/uploads\/sites\/5\/2026\/01\/conseil-genetique.jpg\" class=\"attachment-large size-large wp-image-7451\" alt=\"faire-un-test-genetique-chez-un-patient-symptomatique-conseil\" srcset=\"http:\/\/reseau-amylose.org\/jesuissoignant\/wp-content\/uploads\/sites\/5\/2026\/01\/conseil-genetique.jpg 650w, http:\/\/reseau-amylose.org\/jesuissoignant\/wp-content\/uploads\/sites\/5\/2026\/01\/conseil-genetique-300x224.jpg 300w\" sizes=\"(max-width: 650px) 100vw, 650px\" \/>\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-25 elementor-top-column elementor-element elementor-element-76521dd\" data-id=\"76521dd\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap\">\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-3d75139 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"3d75139\" data-element_type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-d21055f\" data-id=\"d21055f\" data-element_type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap\">\n\t\t\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"<p>Conseil g\u00e9n\u00e9tique et test g\u00e9n\u00e9tique chez les apparent\u00e9s d&rsquo;un patient ATTRv Lorsqu&rsquo;une amylose \u00e0 transthyr\u00e9tine h\u00e9r\u00e9ditaire (ATTRv) est confirm\u00e9e chez un patient \u2014 appel\u00e9\u00a0cas index\u00a0\u2014, un conseil g\u00e9n\u00e9tique doit \u00eatre propos\u00e9 aux membres adultes de sa famille. Cette d\u00e9marche leur permet de d\u00e9cider, librement et en connaissance de cause, de r\u00e9aliser ou non un test [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"categories":[],"tags":[],"class_list":["post-7420","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.5 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Test g\u00e9n\u00e9tique chez un apparent\u00e9 | Conseil g\u00e9n\u00e9tique amylose<\/title>\n<meta name=\"description\" content=\"Chez les apparent\u00e9s d\u2019un patient atteint d\u2019amylose ATTRv, le conseil g\u00e9n\u00e9tique encadre le test g\u00e9n\u00e9tique dans un cadre m\u00e9dical, \u00e9thique et r\u00e9glement\u00e9.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, 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