{"id":139991,"date":"2023-03-01T06:20:05","date_gmt":"2023-03-01T05:20:05","guid":{"rendered":"https:\/\/www.bellunopress.it\/?p=139991"},"modified":"2023-03-01T06:20:05","modified_gmt":"2023-03-01T05:20:05","slug":"malattie-rare-uno-studio-in-ulss-dolomiti-sulla-malattia-di-anderson-fabry","status":"publish","type":"post","link":"https:\/\/www.bellunopress.it\/fr\/2023\/03\/01\/malattie-rare-uno-studio-in-ulss-dolomiti-sulla-malattia-di-anderson-fabry\/","title":{"rendered":"Malattie rare: uno studio in Ulss Dolomiti sulla Malattia di Anderson Fabry"},"content":{"rendered":"<p><img loading=\"lazy\" decoding=\"async\" class=\"alignleft size-full wp-image-84065\" src=\"https:\/\/www.bellunopress.it\/wp-content\/uploads\/2017\/02\/ulss-1-dolomiti.jpg\" alt=\"\" width=\"214\" height=\"110\" \/>Nella giornata dedicate alle malattie rare, l\u2019Ulss Dolomiti ha approvato la partecipazione della Cardiologia di Belluno allo studio su \u201cCome incrementare le diagnosi di Malattia di Anderson Fabry \u2013 Il potere della conoscenza\u201d promosso dal Gemelli di Roma, centro di riferimento per questa malattia rara.<\/p>\n<p>La malattia di Anderson Fabry (AFD) \u00e8 una malattia rara ereditaria caratterizzata da un difetto genetico (il gene GLA) che comporta la carenza o l\u2019assenza di un particolare enzima chiamato \u03b1\u2013galattosidasi. Questa situazione porta all&#8217;accumulo nei lisosomi (organuli cellulari deputati alla degradazione di varie molecole) di un particolare gruppo di sostanze che si chiamano glicosfingolipidi. Nel corso della vita, la malattia colpisce diversi organi e sistemi (sistema nervoso, reni, cuore, vasi sanguigni). Si pu\u00f2 arrivare a situazioni gravi come l&#8217;insufficienza renale, l&#8217;infarto o l&#8217;ictus. La rarit\u00e0 di questa malattia e l\u2019eterogeneit\u00e0 delle sue manifestazioni poco specifiche rendono difficile \u201criconoscere\u201d l\u2019AFD, giustificando il significativo tasso di diagnosi errate, il ritardo diagnostico e quindi terapeutico nell\u2019inizio della terapia enzimatica sostitutiva in questi pazienti. La rarit\u00e0 dell\u2019AFD giustifica inoltre la limitata esperienza che i vari specialisti possano maturare su questa malattia rendendo ragione anche della difficolt\u00e0 nel \u201csospettarla\u201d.<\/p>\n<p>Alla luce di queste valutazioni \u00e8 stato ideato questo studio che ha come obiettivo quello di valutare se un intervento di formazione scientifica sulla AFD e un\u2019opera di tutoraggio attivo nel percorso diagnostico di quadri di ipertrofia ventricolare sinistra di eziologia non nota, effettuate su un gruppo cardiologi di Centri Spoke da parte di Cardiologi esperti in AFD, possa contribuire ad aumentare il numero di screening e di diagnosi di questa rara malattia.<\/p>","protected":false},"excerpt":{"rendered":"<p>Nella giornata dedicate alle malattie rare, l\u2019Ulss Dolomiti ha approvato la partecipazione della Cardiologia di Belluno allo studio su \u201cCome incrementare le diagnosi di Malattia di Anderson Fabry \u2013 Il potere della conoscenza\u201d promosso dal Gemelli di Roma, centro di riferimento per questa malattia rara. La malattia di Anderson Fabry (AFD) \u00e8 una malattia rara [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":122834,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[17],"tags":[],"class_list":["post-139991","post","type-post","status-publish","format-standard","has-post-thumbnail","category-sanita"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Malattie rare: uno studio in Ulss Dolomiti sulla Malattia di Anderson Fabry - Bellunopress - Dolomiti<\/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:\/\/www.bellunopress.it\/fr\/2023\/03\/01\/malattie-rare-uno-studio-in-ulss-dolomiti-sulla-malattia-di-anderson-fabry\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Malattie rare: uno studio in Ulss Dolomiti sulla Malattia di Anderson Fabry - Bellunopress - Dolomiti\" \/>\n<meta property=\"og:description\" content=\"Nella giornata dedicate alle malattie rare, l\u2019Ulss Dolomiti ha approvato la partecipazione della Cardiologia di Belluno allo studio su \u201cCome incrementare le diagnosi di Malattia di Anderson Fabry \u2013 Il potere della conoscenza\u201d promosso dal Gemelli di Roma, centro di riferimento per questa malattia rara. 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