{"id":55800,"date":"2024-05-14T16:22:16","date_gmt":"2024-05-14T14:22:16","guid":{"rendered":"https:\/\/www.ipsen.com\/?p=55800"},"modified":"2024-05-14T16:25:53","modified_gmt":"2024-05-14T14:25:53","slug":"cholestase-intrahepatique-progressive-familiale-pfic-des-experts-en-hepatologie-examinent-limportance-du-diagnostic-et-de-la-prise-en-charge-precoces","status":"publish","type":"post","link":"https:\/\/www.ipsen.com\/fr\/rare-diseases-fr\/cholestase-intrahepatique-progressive-familiale-pfic-des-experts-en-hepatologie-examinent-limportance-du-diagnostic-et-de-la-prise-en-charge-precoces\/","title":{"rendered":"Cholestase intrah\u00e9patique progressive familiale (PFIC)\u202f: des experts en h\u00e9patologie examinent l\u2019importance du diagnostic et de la prise en charge pr\u00e9coces\u00a0"},"content":{"rendered":"\n<p>La cholestase intrah\u00e9patique progressive familiale (PFIC) est une maladie h\u00e9patique rare qui peut entra\u00eener des cons\u00e9quences graves, en particulier chez les jeunes enfants<sup>1<\/sup>, cependant il est rassurant de savoir qu\u2019il existe de plus en plus de possibilit\u00e9s de prise en charge de la maladie, de ralentir sa progression et d\u2019am\u00e9liorer son issue.&nbsp;&nbsp;<\/p>\n\n\n\n<p>Un nouveau protocole pour le diagnostic et la prise en charge de la PFIC a \u00e9t\u00e9 discut\u00e9 avec enthousiasme par d&#8217;\u00e9minents experts en h\u00e9patologie lors du congr\u00e8s annuel de la Soci\u00e9t\u00e9 europ\u00e9enne de gastroent\u00e9rologie, h\u00e9patologie et nutrition p\u00e9diatrique (ESPGHAN) en mai.&nbsp;<\/p>\n\n\n\n<p>La PFIC d\u00e9signe un groupe de maladies g\u00e9n\u00e9tiques qui provoquent une accumulation de bile dans le foie et peuvent pr\u00e9senter des manifestations particuli\u00e8rement s\u00e9v\u00e8res chez les b\u00e9b\u00e9s et les nourrissons. Si elle n&#8217;est pas trait\u00e9e, la PFIC peut entra\u00eener une insuffisance h\u00e9patique terminale et conduire \u00e0 la n\u00e9cessit\u00e9 d\u2019une transplantation h\u00e9patique.<sup>1,2 <\/sup>Le prurit (d\u00e9mangeaisons intol\u00e9rables) est le sympt\u00f4me le plus p\u00e9nible de la PFIC et, dans certains cas, peut \u00eatre si s\u00e9v\u00e8re que des mutilations cutan\u00e9es, une perte de sommeil, de l&#8217;irritabilit\u00e9, un manque de concentration et une baisse des r\u00e9sultats scolaires en d\u00e9coulent.<sup>1<\/sup>&nbsp;<\/p>\n\n\n\n<p>La PFIC est une maladie \u00e9volutive dans laquelle les l\u00e9sions h\u00e9patiques peuvent persister si une prise en charge efficace n\u2019est pas instaur\u00e9e. Un diagnostic et une prise en charge pr\u00e9coces sont donc essentiels.<sup>4,5<\/sup> Nous avons eu l\u2019occasion d\u2019\u00e9changer avec un professeur agr\u00e9g\u00e9 du service d\u2019h\u00e9matologie p\u00e9diatrique de l\u2019h\u00f4pital universitaire pour enfants Anna Meyer, Dr Indolfi, qui a soulign\u00e9 que : <em>\u00ab\u202fNous disposons de chiffres indiquant qu\u2019un certain nombre d\u2019enfants atteints de PFIC risqueraient de voir la maladie empirer, mais un diagnostic, un traitement et une prise en charge pr\u00e9coces peuvent certainement am\u00e9liorer l\u2019\u00e9volution naturelle \u00e0 long terme de la maladie.\u202f\u00bb<\/em> Vous pouvez en savoir plus sur les sympt\u00f4mes de la PFIC et sur l\u2019importance d\u2019un traitement pr\u00e9coce en regardant le film complet ici.\u202f\u00a0<\/p>\n\n\n    <section class=\"video-card \">\n        <div class=\"container\">\n            <!-- Block Details -->\n            <div class=\"video-card-header\">\n                <h2 class=\"video-card-block-title hidden\"><\/h2>\n                <p class=\"charcoal-grey video-card-block-summary hidden\"> <\/p>\n            <\/div>\n\n            <!-- Video Iframe embed -->\n                            <div class=\"video-embed\"> \n                <iframe loading=\"lazy\" title=\"APeX Compilation Video Outline_FINAL\" src=\"https:\/\/player.vimeo.com\/video\/942354241?app_id=122963&#038;autoplay=1&#038;muted=1&#038;controls=1&#038;loop=1&#038;autopause=1&#038;background=0\" width=\"640\" height=\"360\" frameborder=\"0\" allow=\"autoplay; fullscreen; picture-in-picture; clipboard-write\" frameborder=\"0\" allow=\"autoplay; fullscreen; picture-in-picture\" data-ot-ignore><\/iframe>                <\/div>\n            \n            <!-- Block CTA -->\n            <div class=\"cta-block hidden\">\n                            <\/div>\n\n        <\/div>\n    <\/section>\n\n\n\n<p>Pendant toute la dur\u00e9e du congr\u00e8s de l\u2019ESPGHAN, les experts en h\u00e9patologie ont insist\u00e9 sur le fait que les sympt\u00f4mes tels que la jaunisse, des d\u00e9mangeaisons importantes, un retard de croissance et de l\u2019irritabilit\u00e9 chez des enfants devraient \u00e9veiller des soup\u00e7ons de PFIC pour \u00e9viter de retarder inutilement le diagnostic. Une orientation rapide vers le sp\u00e9cialiste appropri\u00e9 devrait ensuite \u00eatre effectu\u00e9e afin que le traitement puisse \u00eatre instaur\u00e9 le plus t\u00f4t possible, en mettant l\u2019accent sur l\u2019am\u00e9lioration des sympt\u00f4mes cliniques et le ralentissement de la progression de la maladie afin de retarder la n\u00e9cessit\u00e9 d\u2019une transplantation h\u00e9patique.\u202f&nbsp;<\/p>\n\n\n\n<p>Bien que la PFIC soit g\u00e9n\u00e9ralement associ\u00e9e aux enfants, elle peut \u00e9galement appara\u00eetre chez les adultes. L\u2019une des formes de PFIC pr\u00e9sente des sympt\u00f4mes souvent similaires \u00e0 ceux d\u2019autres maladies qui affectent l\u2019\u00e9coulement de la bile dans le foie, ce qui rend difficile le diagnostic initial.<sup>6<\/sup> Par cons\u00e9quent, il est important de prendre en compte la possibilit\u00e9 de la PFIC lorsque des maladies cholestatiques sont suspect\u00e9es, car la PFIC pourrait facilement passer inaper\u00e7ue.\u202f&nbsp;<\/p>\n\n\n\n<p><em>Si vous reconnaissez l\u2019un de ces signes ou sympt\u00f4mes, parlez-en \u00e0 votre m\u00e9decin d\u00e8s que possible. La d\u00e9tection et la prise en charge pr\u00e9coces peuvent \u00eatre primordiales pour l\u2019\u00e9volution de la PFIC. Pour plus d\u2019informations, veuillez consulter le<\/em> <a href=\"https:\/\/www.pfic.org\/\" target=\"_blank\" rel=\"noreferrer noopener\"><em>PFIC Network website<\/em><\/a><em> (Site Internet du R\u00e9seau PFIC).\u202f<\/em>\u202f\u00a0<\/p>\n\n\n\n<!--Alert Card Layout Start Here-->\n<section class=\"alertcard-section\">\n      <div class=\"container\">\n        <!--Alert Box HTML Start Here-->\n        <div class=\"alert-box general-box\">\n                  <div class=\"info-contents\">\n            <p class=\"info-head visible\">R\u00e9f\u00e9rences<\/p>\n            <p class=\"info-sub-head-para hidden\"><\/p>\n            <div class=\"alert-content visible\"><ol>\n<li><em>Baker A, et al. Systematic review of progressive familial intrahepatic cholestasis. Clin Res Hepatol Gastroenterol. 2019. 43:20-36.\u00a0<\/em><\/li>\n<li><em>Mighiu C, et al. Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study. Orphanet J. Rare Dis. 2022. 17:1-9.\u00a0<\/em><\/li>\n<li><em>Folmer DE, et al. Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1.\u202fHepatol (Baltimore, Md.). 2009.\u202f50(5), 1597\u20131605.\u00a0<\/em><\/li>\n<li><em>Jones-Hughes T, et al. Epidemiology and burden of progressive familial intrahepatic cholestasis: a systematic review.\u202fOrphanet J. Rare Dis. 2021.16(1), 255.\u202f\u00a0<\/em><\/li>\n<li><em>McKiernan P, et al. Opinion paper on the diagnosis and treatment of progressive familial intrahepatic cholestasis.\u202fJHEP Rep. 2023. 6(1),100949.\u202f\u00a0<\/em><\/li>\n<li><em>Srivastava A. Progressive familial intrahepatic cholestasis.\u202fJCEH. 2014.\u202f4(1), 25\u201336.\u202f\u00a0<\/em><\/li>\n<\/ol>\n<\/div>\n          <\/div>\n        <\/div>\n        <!--Alert Box HTML Start Here-->\n      <\/div>\n    <\/section>\n<!--Alert Card Layout End Here-->\n","protected":false},"excerpt":{"rendered":"<p>La cholestase intrah\u00e9patique progressive familiale (PFIC) est une maladie h\u00e9patique rare qui peut entra\u00eener des cons\u00e9quences graves, en particulier chez<\/p>\n","protected":false},"author":11,"featured_media":55100,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1192],"tags":[],"class_list":["post-55800","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-rare-diseases-fr","entry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.5 - 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