{"id":16947,"date":"2023-07-03T14:59:18","date_gmt":"2023-07-03T12:59:18","guid":{"rendered":"https:\/\/www.hematostat.net\/?p=16947"},"modified":"2024-12-11T19:00:03","modified_gmt":"2024-12-11T18:00:03","slug":"prevalence-pas-si-rare-que-cela-du-syndrome-vexas","status":"publish","type":"post","link":"https:\/\/www.hematostat.net\/en\/prevalence-pas-si-rare-que-cela-du-syndrome-vexas\/","title":{"rendered":"Pr\u00e9valence (pas si rare que cela !) du syndrome VEXAS"},"content":{"rendered":"

R\u00e9f. : HematoStat.net ; 4 (2) : R76<\/p>\n

<\/em>Beck DB, Bodian DL, Shah V, et al. Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population. <\/em>JAMA<\/em><\/strong>. 2023 24;329(4):318-324.<\/em><\/a><\/em><\/p>\n

R\u00e9sum\u00e9 de l\u2019article<\/strong><\/p>\n

Dans cette \u00e9tude observationnelle sur un large registre am\u00e9ricain (Geisinger MyCode Community<\/em>, n=163096 participants), les mutations d\u2019UBA1<\/em> d\u00e9finissant le syndrome VEXAS ont \u00e9t\u00e9 recherch\u00e9es par s\u00e9quen\u00e7age d\u2019exome. Un total de 11 patients (9 hommes et 2 femmes) \u00e9taient porteurs de variants probablement pathog\u00e8nes associ\u00e9 \u00e0 un ph\u00e9notype compatible (notamment 5\/11 avaient des manifestations inflammatoires non \u00e9tiquet\u00e9es qui ne remplissant pas les crit\u00e8res diagnostics pour d\u2019autres pathologies syst\u00e9miques).<\/p>\n

Dans nos pratiques<\/strong><\/p>\n

Cette \u00e9tude apporte une estimation de la pr\u00e9valence du VEXAS (1\/13591) dans une population caucasienne, similaire \u00e0 celle de la maladie de Beh\u00e7et (1\/10000). Elle souligne \u00e9galement l\u2019importance de rechercher les mutations d\u2019UBA1<\/em> devant la pr\u00e9sence de cytop\u00e9nies et pathologies inflammatoires chroniques non \u00e9tiquet\u00e9es.<\/p>\n

Le regard du biostatisticien<\/strong><\/p>\n

Une grande cohorte pour aboutir \u00e0 une \u00e9tude 12 cas, obligeant d\u2019\u00e9crire les intervalles de confiance de la pr\u00e9valence sous forme de fraction (et non en nombre d\u00e9cimal). Souci classique : il n\u2019y a pas vraiment possibilit\u00e9 de faire des \u00e9tudes statistiques pouss\u00e9es ou ne serait-ce qu\u2019un peu de g\u00e9n\u00e9ralisation avec une pr\u00e9valence si faible. Comme l\u2019indiquent les limitations de l\u2019\u00e9tude, il faudra aussi tr\u00e8s certainement \u00e9tudier la pr\u00e9valence de cette mutation dans d\u2019autres populations dans d\u2019autres r\u00e9gions du monde.<\/p>\n<\/div><\/div><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":16944,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"_uf_show_specific_survey":0,"_uf_disable_surveys":false,"footnotes":""},"categories":[36],"tags":[],"ppma_author":[459],"class_list":["post-16947","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-revue-de-presse","author-lin-pierre-zhao"],"aioseo_notices":[],"authors":[{"term_id":459,"user_id":0,"is_guest":1,"slug":"lin-pierre-zhao","display_name":"Lin-Pierre ZHAO","avatar_url":{"url":"https:\/\/www.hematostat.net\/wp-content\/uploads\/2023\/06\/Capture-decran-2023-03-29-a-12.52.50-1.png","url2x":"https:\/\/www.hematostat.net\/wp-content\/uploads\/2023\/06\/Capture-decran-2023-03-29-a-12.52.50-1.png"},"first_name":"","last_name":"","user_url":"","description":"H\u00e9matologue.
\r\nChef de clinique assistant
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