{"id":50050,"date":"2024-02-12T17:02:09","date_gmt":"2024-02-12T15:02:09","guid":{"rendered":"https:\/\/www.ipsen.com\/?p=50050"},"modified":"2024-02-14T16:52:47","modified_gmt":"2024-02-14T14:52:47","slug":"les-defis-pas-si-rares-des-maladies-rares-du-foie","status":"publish","type":"post","link":"https:\/\/www.ipsen.com\/fr\/actualites\/rare-diseases-fr\/les-defis-pas-si-rares-des-maladies-rares-du-foie\/","title":{"rendered":"Les d\u00e9fis pas si rares des maladies rares du foie"},"content":{"rendered":"\n<p>Le diagnostic d\u2019une maladie h\u00e9patique rare peut \u00eatre l\u2019un des moments les plus turbulents sur le plan \u00e9motionnel dans la vie d\u2019une personne.<sup>1<\/sup> Pour les parents d\u2019un nouveau-n\u00e9 sur 50 000 \u00e0 100 000 touch\u00e9s par une maladie h\u00e9patique rare, ce moment n\u2019est que trop familier.<sup>2<\/sup><\/p>\n\n\n\n<p>Les maladies cholestatiques rares du foie sont un groupe d&#8217;affections rares qui affectent le fonctionnement des voies biliaires, provoquant des l\u00e9sions du foie qui s&#8217;aggravent avec le temps et peuvent conduire \u00e0 une insuffisance h\u00e9patique et \u00e9ventuellement \u00e0 la n\u00e9cessit\u00e9 d&#8217;une greffe du foie.<sup>3<\/sup> Ces affections provoquent des sympt\u00f4mes d\u00e9vastateurs tels que comme des d\u00e9mangeaisons intenses (prurit) et une fatigue extr\u00eame (fatigue) qui peuvent \u00eatre gravement d\u00e9bilitantes mais sont souvent invisibles et mal comprises.<sup>4<\/sup><\/p>\n\n\n\n<p>Il y a encore beaucoup de choses inconnues sur la fa\u00e7on dont les maladies h\u00e9patiques rares se d\u00e9veloppent et progressent<sup>5<\/sup> ; cela peut constituer un obstacle \u00e0 l\u2019innovation dans les processus de diagnostic et bloquer le d\u00e9veloppement de nouveaux traitements. Ipsen veut changer cela. Nous nous engageons \u00e0 d\u00e9velopper des solutions innovantes pour les personnes vivant avec des maladies rares, en nous concentrant particuli\u00e8rement sur les maladies pour lesquelles les gens en ont le plus besoin.<\/p>\n\n\n<!--Graphics Cards Carousel Start Here-->\n\n    <section class=\"graphic-card graphics-old-layout bg-color-disabled bg-image-disabled bg-video-disabled bg-mobile-video-img-disabled\"    data-displaycards=\"2\">\n                <div class=\"container\">\n            <div class=\"text-graph-inner\">\n                <div class=\"row\">\n                    <!--Graphic info section-->\n                    <div class=\"column-1 col-xl-12 col-md-12 col-sm-12\">\n                        <div class=\"text-graph-heading\">\n                        <h3 class=\"charcoal-grey visible heading-three\" role=\"heading\" aria-level=\"2\">\n                                Chaque maladie h\u00e9patique rare est unique                            <\/h3>\n                            <p class=\"text-graph-para charcoal-grey hidden\"><\/p>\n                        <\/div>\n                    <\/div><!--Graphic info section over here -->\n\n                    <!--Graphic detail section-->\n                    <div class=\"column-2 col-xl-12 col-md-12 col-sm-12\">\n                        <!-- graphic-card carousel start here -->\n                                                    <div class=\"text-graph-carousel\">\n                                <div class=\"glider-contain multiple\">\n                                                                                    <div class=\"text-graph-content-btn\">\n                                                    <button aria-hidden=\"true\" aria-label=\"Pr\u00e9c\u00e9dent\" class=\"glider-graphic-card-prev\"><span><\/span><\/button>\n                                                    <button aria-hidden=\"true\" aria-label=\"Suivant\" class=\"glider-graphic-card-next\"><span><\/span><\/button>\n                                                <\/div>\n                                    \n                                <div class=\"glider-graphic-card\" tabindex=\"-1\">\n                                                                                                                        <div class=\"text-graphic\">\n                                                    <div class=\"text-graph-row\">\n                                                        \n                                                                <!-- Graphic Card With OLD layout start here -->\n                                                                <div class=\"column-1\">\n                                                                                                                                    <\/div>\n                                                                <div class=\"column-2\">\n                                                                    <div class=\"text-graph-content\">\n                                                                                                                                                        <div class=\"text-graph-title\">\n                                                                                <h4 role=\"heading\" aria-level=\"3\">Cholangite biliaire primitive (CBP)<\/h4>\n                                                                                <\/div>\n                                                                                                                                                <div class=\"text-graph-desc\">\n                                                                            <p><p>La CBP est une maladie auto-immune rare et chronique qui entra\u00eene des l\u00e9sions progressives des petites voies biliaires du foie.6 Parmi les personnes atteintes de CBP, neuf personnes sur dix sont des femmes, bien que les raisons soient en grande partie inconnues.<sup>6<\/sup><\/p>\n<\/p>\n                                                                        <\/div>\n                                                                    <\/div>\n                                                                <\/div>\n                                                                <!-- Graphic Card With OLD layout end here -->\n                                                        \n                                                    <\/div>\n                                                <\/div>\n                                                                                                                                                                    <div class=\"text-graphic\">\n                                                    <div class=\"text-graph-row\">\n                                                        \n                                                                <!-- Graphic Card With OLD layout start here -->\n                                                                <div class=\"column-1\">\n                                                                                                                                    <\/div>\n                                                                <div class=\"column-2\">\n                                                                    <div class=\"text-graph-content\">\n                                                                                                                                                        <div class=\"text-graph-title\">\n                                                                                <h4 role=\"heading\" aria-level=\"3\">Cholestase intra-h\u00e9patique familiale progressive (PFIC)<\/h4>\n                                                                                <\/div>\n                                                                                                                                                <div class=\"text-graph-desc\">\n                                                                            <p><p>PFIC est le nom donn\u00e9 \u00e0 une s\u00e9rie de conditions g\u00e9n\u00e9tiques qui provoquent une accumulation de bile dans les cellules h\u00e9patiques et peuvent conduire \u00e0 une insuffisance h\u00e9patique terminale. Elle affecte les b\u00e9b\u00e9s et les nourrissons, mais peut \u00e9galement affecter les adultes. Le prurit est le sympt\u00f4me le plus d\u00e9bilitant de la PFIC et peut \u00eatre si grave qu&#8217;il entra\u00eene des mutilations cutan\u00e9es, une perte de sommeil, de l&#8217;irritabilit\u00e9, un manque d&#8217;attention et une alt\u00e9ration des r\u00e9sultats scolaires.<sup>7,8<\/sup><\/p>\n<\/p>\n                                                                        <\/div>\n                                                                    <\/div>\n                                                                <\/div>\n                                                                <!-- Graphic Card With OLD layout end here -->\n                                                        \n                                                    <\/div>\n                                                <\/div>\n                                                                                                                                                                    <div class=\"text-graphic\">\n                                                    <div class=\"text-graph-row\">\n                                                        \n                                                                <!-- Graphic Card With OLD layout start here -->\n                                                                <div class=\"column-1\">\n                                                                                                                                    <\/div>\n                                                                <div class=\"column-2\">\n                                                                    <div class=\"text-graph-content\">\n                                                                                                                                                        <div class=\"text-graph-title\">\n                                                                                <h4 role=\"heading\" aria-level=\"3\">Syndrome d&#8217;Alagille (ALGS)<\/h4>\n                                                                                <\/div>\n                                                                                                                                                <div class=\"text-graph-desc\">\n                                                                            <p><p>L&#8217;ALGS est une condition dans laquelle la personne a un nombre r\u00e9duit de voies biliaires\u00a0; cela peut affecter le foie et plusieurs autres syst\u00e8mes organiques.<sup>9,10<\/sup> La plupart des patients atteints d\u2019ALGS re\u00e7oivent un diagnostic avant l\u2019\u00e2ge d\u2019un an.<sup>11<\/sup><\/p>\n<\/p>\n                                                                        <\/div>\n                                                                    <\/div>\n                                                                <\/div>\n                                                                <!-- Graphic Card With OLD layout end here -->\n                                                        \n                                                    <\/div>\n                                                <\/div>\n                                                                                                                                                                    <div class=\"text-graphic\">\n                                                    <div class=\"text-graph-row\">\n                                                        \n                                                                <!-- Graphic Card With OLD layout start here -->\n                                                                <div class=\"column-1\">\n                                                                                                                                    <\/div>\n                                                                <div class=\"column-2\">\n                                                                    <div class=\"text-graph-content\">\n                                                                                                                                                        <div class=\"text-graph-title\">\n                                                                                <h4 role=\"heading\" aria-level=\"3\">Cholangite scl\u00e9rosante primitive (CSP)<\/h4>\n                                                                                <\/div>\n                                                                                                                                                <div class=\"text-graph-desc\">\n                                                                            <p><p>La CSP est une maladie auto-immune progressive, dans laquelle les voies biliaires du foie deviennent chroniquement enflamm\u00e9es, \u00e9troites et durcies.<sup>12<\/sup> Le nombre de personnes atteintes de CSP dans le monde augmente, peut-\u00eatre en raison d&#8217;une meilleure d\u00e9tection de la maladie, et est actuellement estim\u00e9 \u00e0 ~ 11,16 pour 100 000.<sup>13,14<\/sup><\/p>\n<\/p>\n                                                                        <\/div>\n                                                                    <\/div>\n                                                                <\/div>\n                                                                <!-- Graphic Card With OLD layout end here -->\n                                                        \n                                                    <\/div>\n                                                <\/div>\n                                                                                                                                                                    <div class=\"text-graphic\">\n                                                    <div class=\"text-graph-row\">\n                                                        \n                                                                <!-- Graphic Card With OLD layout start here -->\n                                                                <div class=\"column-1\">\n                                                                                                                                    <\/div>\n                                                                <div class=\"column-2\">\n                                                                    <div class=\"text-graph-content\">\n                                                                                                                                                        <div class=\"text-graph-title\">\n                                                                                <h4 role=\"heading\" aria-level=\"3\">Atr\u00e9sie biliaire (BA)<\/h4>\n                                                                                <\/div>\n                                                                                                                                                <div class=\"text-graph-desc\">\n                                                                            <p><p>L&#8217;AB est une maladie p\u00e9diatrique rare sans traitement approuv\u00e9.<sup>15<\/sup> Elle se d\u00e9veloppe 4 \u00e0 8 semaines apr\u00e8s la naissance et provoque des voies biliaires endommag\u00e9es et absentes \u00e0 l&#8217;ext\u00e9rieur du foie, ce qui entra\u00eene le pi\u00e9geage des acides biliaires \u00e0 l&#8217;int\u00e9rieur du foie.<sup>15<\/sup><\/p>\n<\/p>\n                                                                        <\/div>\n                                                                    <\/div>\n                                                                <\/div>\n                                                                <!-- Graphic Card With OLD layout end here -->\n                                                        \n                                                    <\/div>\n                                                <\/div>\n                                                                                                                <\/div>\n                            <\/div>\n                                            <\/div> <!-- graphic-card carousel end here -->\n                <\/div> <!--Graphic detail section over here with 12 grid -->   \n            <\/div><!--row ended here-->\n        <\/div> <!-- graph-inner ended here -->\n        \n            <div class=\"more-result-btn\">\n                                            <\/div>\n        <\/div> <!--Container class ended here -->\n    <\/section>\n<!--Graphics Cards Carousel End Here-->\n\n\n\n<p><strong>Les d\u00e9fis li\u00e9s \u00e0 la vie avec une maladie h\u00e9patique rare sont courants<\/strong> <\/p>\n\n\n\n<p>Les personnes atteintes de maladies h\u00e9patiques rares sont confront\u00e9es \u00e0 de nombreux d\u00e9fis, notamment des diagnostics tardifs, des diagnostics erron\u00e9s et des options de traitement limit\u00e9es. Il y a \u00e9galement un manque de cliniciens sp\u00e9cialistes des maladies h\u00e9patiques rares, et les gens re\u00e7oivent des plans de soins qui ne les aident pas n\u00e9cessairement \u00e0 vivre une vie bien remplie et confortable.<sup>16<\/sup><\/p>\n\n\n    <section class=\"title-text \">\n        <div class=\"container\">\n            <div class=\"title-text-inner\" style=\"background-color:#EDEBE4;\">\n\n                <!-- If heading is enabled then it's visible -->\n                <div class=\"text-head-dash hidden\">\n                <h3 class=\"heading-three\" role=\"heading\" aria-level=\"2\">\n                                            <\/h3>\n                <\/div>\n               \n                <!-- If description is enabled then it's visible -->\n                <div class=\"text-parbase visible\">\n                    <p>Mo, qui vit avec une CBP, nous a confi\u00e9 : \u00ab Je commen\u00e7ais \u00e0 me sentir vraiment fatigu\u00e9e (\u2026) puis j&#8217;ai eu des articulations tr\u00e8s douloureuses. La d\u00e9mangeaison \u00e9tait tout simplement horrible. Je ne pouvais pas dormir. Ma peau \u00e9tait cass\u00e9e, elle allait s&#8217;infecter. Nous avons essay\u00e9 beaucoup de traitements diff\u00e9rents, mais rien n\u2019a fonctionn\u00e9 pour moi (\u2026) parce que ma qualit\u00e9 de vie \u00e9tait si mauvaise qu\u2019on m\u2019a orient\u00e9 vers une greffe.<\/p>\n                <\/div>\n\n                <!-- If button is enabled then it's visible -->\n                \n            <\/div>\n        <\/div>\n    <\/section>\n\n\n\n<p>L&#8217;histoire de Mo n&#8217;est pas rares. Au-del\u00e0 des sympt\u00f4mes physiques de maladies h\u00e9patiques rares, les enfants peuvent avoir une qualit\u00e9 de vie r\u00e9duite et \u00e9prouver des difficult\u00e9s \u00e0 l&#8217;\u00e9cole, notamment la stigmatisation et l&#8217;intimidation.17 Les parents et les tuteurs peuvent ressentir des niveaux \u00e9lev\u00e9s d&#8217;anxi\u00e9t\u00e9 et de stress li\u00e9s au diagnostic de leur enfant.18 C&#8217;est pourquoi il est Il devient de plus en plus important d\u2019inclure les r\u00e9sultats rapport\u00e9s par les patients dans les essais de m\u00e9dicaments potentiels pour ces maladies, afin que les perspectives de ceux qui vivent quotidiennement avec la maladie soient prises en compte.<\/p>\n\n\n\n<p>Chez Ipsen, nous sommes des personnes ordinaires avec des ambitions extraordinaires pour am\u00e9liorer la sant\u00e9 et prolonger la vie des personnes atteintes d\u2019une maladie h\u00e9patique rare. Notre fort sentiment d\u2019utilit\u00e9 est inspir\u00e9 par les histoires et les exp\u00e9riences des patients. Nous \u00e9coutons attentivement ceux qui vivent avec des maladies h\u00e9patiques rares, pour comprendre ce qui compte le plus pour eux, par le biais de conseils consultatifs, de groupes de discussion et de conversations individuelles. Nous travaillons en \u00e9troite collaboration avec la communaut\u00e9 afin que les gens puissent communiquer leurs exp\u00e9riences et que les cliniciens puissent mieux comprendre leur impact.<\/p>\n\n\n\n<p>Nous nous engageons \u00e9galement \u00e0 faire tout ce qui est en notre pouvoir pour faire progresser les traitements des maladies h\u00e9patiques rares, qui \u00e0 la fois g\u00e8rent la progression de la maladie et traitent les effets des sympt\u00f4mes. Notre objectif est de les rendre accessibles aux bonnes personnes au bon moment et d\u2019\u00eatre une force de changement dans l\u2019innovation th\u00e9rapeutique et au-del\u00e0. Nous ne nous arr\u00eaterons pas aussi longtemps que nous aurons le potentiel de changer la vie de personnes comme Mo, ainsi que les perspectives de toutes les personnes touch\u00e9es par des maladies rares du foie.<\/p>\n\n\n\n    <!--Accordion Cards Start Here-->\n    <section class=\"accordion bg-color-disabled\"  data-according-id=\"1410915728\">\n        <div class=\"container\">\n            <div class=\"row\">\n                <!--Accordion info section-->\n                <div class=\"column-1 col-xl-12 col-md-12 col-sm-12\">\n                    <div class=\"accordian-info\">\n                        <h3 class=\"accordian-heading hidden heading-three\" role=\"heading\" aria-level=\"2\">\n                                                    <\/h3>\n                        <p class=\"accordian-summary hidden\"><\/p>\n                    <\/div>\n                <\/div><!--Accordion info section over here -->\n\n                <div class=\"col-xl-12 col-lg-12 col-md-12 col-sm-12\">\n                    <div class=\"accordion accor-group\" id=\"accordionExample1410915728\">\n                         \n                                    <!-- Accordion with Expandable panel & FAQs -->\n                                    <div class=\"accordion-item accor-item\">\n                                        <p  role=\"heading\" aria-level=\"3\" class=\"accordion-header accor-head-para\" id=\"expHeading0\">\n                                            <button class=\"accordion-button accor-btn collapsed\" type=\"button\" data-bs-toggle=\"collapse\" data-bs-target=\"#expHeading14109157280\" aria-expanded=\"false\" aria-controls=\"expHeading14109157280\">\n                                                References                                             <\/button>\n                                        <\/p>\n                                        <div id=\"expHeading14109157280\" class=\"accordion-collapse collapse \" aria-labelledby=\"expHeading0\" data-bs-parent=\"#accordionExample1410915728\">\n                                            <div class=\"accordion-body\">\n                                                <div class=\"accordion-data\">\n                                                    <p><ol>\n<li>Adachi T, El-Hattab AW, Jain R, et al. (2023) Enhancing equitable access to rare disease diagnosis and treatment around the world: a review of evidence, policies, and challenges. International Journal of Environmental Research and Public Health 20(6)-4732. Available at: https:\/\/dr.ntu.edu.sg\/handle\/10356\/169907. Last accessed: January 2024<\/li>\n<li>American Liver Foundation. Rare Liver Diseases. Available at: <a href=\"https:\/\/liverfoundation.org\/about-your-liver\/facts-about-liver-disease\/rare-liver-diseases\/\">https:\/\/liverfoundation.org\/about-your-liver\/facts-about-liver-disease\/rare-liver-diseases\/<\/a>. Last accessed: January 2024<\/li>\n<li>Mawardi M, Alalwan A, Fallatah H, et al. (2021) Cholestatic liver disease: Practice guidelines from the Saudi Association for the Study of Liver diseases and Transplantation. Saudi Journal of Gastroenterology 27(Suppl 1):S1-S26. Available at: <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC8411950\/\">https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC8411950\/<\/a>. Last accessed: January 2024<\/li>\n<li>Hasegawa S, Yoneda M, Kurita Y, et al. (2021) Cholestatic Liver Disease: Current Treatment Strategies and New Therapeutic Agents. Drugs 81(10):1181-1192. Available at: <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/34142342\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/34142342\/<\/a>. Last accessed: January 2024<\/li>\n<li>Bernts LHP, Jones DEJ, Kaatee MM, et al. Orphanet J Rare Dis 2019;14:169<\/li>\n<li>Galoosian A, Hanlon C, Zhang J, et al. J Clin Transl Hepatol. 2020;8(1):49\u201360<\/li>\n<li>Baker A, Kerkar N, Todorova L, et al. Clin Res Hepatol Gastroenterol 2019;43:20\u201336<\/li>\n<li>Mighiu C, O\u2019Hara S, Ferri Grazzi E, et al. (2022) Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study. Orphanet Journal of Rare Diseases 17:1-9. Available at: <a href=\"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-022-02177-0\">https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-022-02177-0<\/a>. Last Accessed: January 2024<\/li>\n<li>Alagille D, Odi\u00e8vre M, Gautier M, et al. J Pediatr 1975;86 (1):63\u201371<\/li>\n<li>Spinner NB, Gilbert MA, Loomes KM, et al. Alagille Syndrome. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, eds. GeneReviews(R). Seattle (WA): University of Washington, Seattle, 1993<\/li>\n<li>Kamath BM, Baker A, Houwen R, et al. J Pediatr Gastroenterol Nutr. 2018;67(2):148\u2013156<\/li>\n<li>Karlsen TH, Folseraas T, Thorburn D, et al. J Hepatol. 2017;67:1298\u20131323<\/li>\n<li>Cooper J, Markovinonic A, Coward S et al. Inflamm Bowel Dis 2022;28:S46\u2013S47<\/li>\n<li>Sarcognato S, Sacchi D, Grillo F, et al. Pathologica 2021; 113:170\u2013184<\/li>\n<li>Cincinnati Children&#8217;s &#8211; What is Biliary Atresia?. Available at: <a href=\"https:\/\/www.cincinnatichildrens.org\/health\/b\/biliary-atresia\">https:\/\/www.cincinnatichildrens.org\/health\/b\/biliary-atresia<\/a>. Last accessed: January 2024<\/li>\n<li>Hirschfield GM, Chazouilleres O, Cortez-Pinto H, et al. Expert Rev Gastroenterol Hepatol 2021;15(8):929\u2013939<\/li>\n<li>Naghashi S, Nikniaz Z, Rafeey M et al. Iran J Pediatr. 2019;29(3):e83559<\/li>\n<li>Rodijk LH, de Kleine RH, Verkade HJ et al. J Pediater Surg. 2021<\/li>\n<\/ol>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<\/p>\n                                                    <div class=\"cta-block hidden\" >\n                                                                                                            <\/div>\n                                                <\/div>\n                                            <\/div>\n                                        <\/div>\n                                    <\/div>\n                                                <\/div>\n                <\/div> \n            <\/div>\n        <\/div>\n    <\/section>\n    <!--Accordion Cards End Here-->\n","protected":false},"excerpt":{"rendered":"<p>Le diagnostic d\u2019une maladie h\u00e9patique rare peut \u00eatre l\u2019un des moments les plus turbulents sur le plan \u00e9motionnel dans la<\/p>\n","protected":false},"author":9,"featured_media":50030,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[138],"tags":[],"class_list":["post-50050","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-rare-diseases","entry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - 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