{"id":40136,"date":"2026-10-19T00:00:00","date_gmt":"2026-10-19T00:00:00","guid":{"rendered":"https:\/\/angelboss.com.br\/2026\/10\/19\/338306-doenca-ultrarrara-pode-afetar-figado-coracao-e-ossos\/"},"modified":"2026-10-19T00:00:00","modified_gmt":"2026-10-19T00:00:00","slug":"338306-doenca-ultrarrara-pode-afetar-figado-coracao-e-ossos","status":"publish","type":"post","link":"http:\/\/angelboss.com.br\/en\/2026\/10\/19\/338306-doenca-ultrarrara-pode-afetar-figado-coracao-e-ossos\/","title":{"rendered":"Doen\u00e7a ultrarrara pode afetar f\u00edgado, cora\u00e7\u00e3o e ossos"},"content":{"rendered":"<p>Uma doen\u00e7a no f\u00edgado, altera\u00e7\u00f5es card\u00edacas, problemas \u00f3sseos e sinais oftalmol\u00f3gicos podem parecer problemas isolados, sem rela\u00e7\u00e3o entre si. Essa percep\u00e7\u00e3o muitas vezes dificulta a identifica\u00e7\u00e3o das chamadas doen\u00e7as multissist\u00eamicas, que afetam diferentes \u00f3rg\u00e3os e sistemas do organismo. \u00c9 o caso da <a rel=\"follow\" href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/29543694\/\">s\u00edndrome de Alagille<\/a>, uma condi\u00e7\u00e3o gen\u00e9tica ultrarrara que acomete m\u00faltiplos \u00f3rg\u00e3os desde os primeiros meses de vida. Estima-se que a condi\u00e7\u00e3o afete entre um em cada <a rel=\"follow\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK507827\/#:~:text=The%20syndrome%20occurs%20in%20approximately%201%20in%2030%2C000%20to%2050%2C000%20live%20births\">30 mil e um em cada 50 mil nascidos vivos<\/a> globalmente.<\/p>\n<p>A s\u00edndrome \u00e9 causada por altera\u00e7\u00f5es gen\u00e9ticas que comprometem a forma\u00e7\u00e3o dos ductos biliares intra-hep\u00e1ticos, estruturas respons\u00e1veis pelo transporte da bile produzida pelo f\u00edgado, levando ao ac\u00famulo intra-hep\u00e1tico dessa subst\u00e2ncia no organismo, quadro conhecido como colestase.<\/p>\n<p>Segundo a hepatologista Cibele Dantas, os sintomas costumam manifestar-se logo ap\u00f3s o nascimento atrav\u00e9s de um quadro de colestase neonatal, marcado pelo amarelamento da pele e dos olhos (icter\u00edcia), urina escura (col\u00faria) e fezes claras ou esbranqui\u00e7adas (acolia fecal). &quot;Com a progress\u00e3o da doen\u00e7a, surge o prurido, uma coceira intensa em todo o corpo que se torna o sintoma mais incomodativo e incapacitante, que leva a escoria\u00e7\u00f5es e infec\u00e7\u00f5es secund\u00e1rias, al\u00e9m de comprometer o sono e a rotina di\u00e1ria. O sintoma \u00e9 t\u00e3o grave e debilitante que pode levar \u00e0 indica\u00e7\u00e3o de transplante hep\u00e1tico para controlar o prurido&quot;, explica.<\/p>\n<p>Al\u00e9m das manifesta\u00e7\u00f5es hep\u00e1ticas, a <a rel=\"follow\" href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1273\/\">s\u00edndrome de Alagille<\/a> tamb\u00e9m pode causar altera\u00e7\u00f5es no cora\u00e7\u00e3o, nos olhos, na coluna vertebral, rins e altera\u00e7\u00f5es vasculares. Entre as manifesta\u00e7\u00f5es mais comuns est\u00e3o o estreitamento das art\u00e9rias pulmonares, que pode provocar sopro card\u00edaco, uma altera\u00e7\u00e3o caracter\u00edstica nos olhos chamada embriot\u00f3xon posterior e uma forma\u00e7\u00e3o incomum das v\u00e9rtebras conhecida como &quot;v\u00e9rtebra em borboleta&quot;. O impacto da condi\u00e7\u00e3o tamb\u00e9m se estende \u00e0 din\u00e2mica familiar. A necessidade de acompanhamento multidisciplinar cont\u00ednuo, envolvendo diferentes especialidades m\u00e9dicas, faz com que muitos respons\u00e1veis precisem reorganizar completamente a rotina e, em alguns casos, at\u00e9 deixar o mercado de trabalho para acompanhar o tratamento dos filhos.<\/p>\n<p>No Brasil, h\u00e1 <a rel=\"follow\" href=\"https:\/\/www.sbp.com.br\/sindrome-de-alagille-em-pediatria-no-brasil-e-os-inibidores-do-transportador-de-acido-biliar-ileal-ibat\/#:~:text=Apesar%20do%20impacto%20cl%C3%ADnico%20e%20social%20significativo%2C%20persistem%20lacunas%20relevantes%C2%A0na%20abordagem%20e%20no%20acesso%20a%20tratamentos%20espec%C3%ADficos%2C%C2%A0especialmente%20no%20Brasil%2C%20onde%20ainda%20n%C3%A3o%20h%C3%A1%20protocolos%C2%A0estruturados%20nem%20uniformidade%20no%20cuidado.\">limita\u00e7\u00f5es<\/a> no tratamento da s\u00edndrome. Medicamentos como \u00e1cido ursodeoxic\u00f3lico, rifampicina e colestiramina s\u00e3o utilizados na tentativa de controlar os sintomas da colestase, no entanto, costumam apresentar resposta limitada, n\u00e3o tratam a causa fisiopatol\u00f3gica do prurido, n\u00e3o possuem aprova\u00e7\u00e3o para o tratamento da doen\u00e7a e n\u00e3o est\u00e3o dispon\u00edveis no Sistema \u00danico de Sa\u00fade (SUS) para essa indica\u00e7\u00e3o.<\/p>\n<p>Al\u00e9m disso, a s\u00edndrome de Alagille ainda n\u00e3o conta com um Protocolo Cl\u00ednico e Diretrizes Terap\u00eauticas (PCDT) espec\u00edfico para a doen\u00e7a. &quot;A elabora\u00e7\u00e3o de diretrizes nacionais baseadas em evid\u00eancias cient\u00edficas \u00e9 fundamental para padronizar o cuidado, otimizar recursos e garantir que os pacientes mais graves recebam acompanhamento adequado&quot;, afirma a hepatologista.<\/p>\n<p>Atualmente, o Minist\u00e9rio da Sa\u00fade avalia a incorpora\u00e7\u00e3o ao SUS de um tratamento desenvolvido especificamente para a s\u00edndrome de Alagille: os inibidores do transportador ileal de \u00e1cidos biliares (IBAT). J\u00e1 aprovada pela <a rel=\"follow\" href=\"https:\/\/www.gov.br\/anvisa\/pt-br\/assuntos\/medicamentos\/novos-medicamentos-e-indicacoes\/livmarli-r-maralixibate-novo-registro\">Anvisa<\/a>, essa classe terap\u00eautica (de uso oral) atua diretamente no mecanismo respons\u00e1vel pelo ac\u00famulo de \u00e1cidos biliares, demonstrando resultados significativos na redu\u00e7\u00e3o desses n\u00edveis no sangue e no al\u00edvio do prurido. &quot;A incorpora\u00e7\u00e3o dessa tecnologia representa a oportunidade de oferecer uma op\u00e7\u00e3o segura e eficaz para os pacientes, reduzindo significativamente o prurido e sobretudo aumentando as chances de sobrevida do f\u00edgado nativo e reduzindo a necessidade de transplante. Para as fam\u00edlias, significa uma nova perspectiva de qualidade de vida&quot;, conclui Dra. Cibele.<\/p>\n<p><img src='https:\/\/api.dino.com.br\/v2\/news\/tr\/338306?partnerId=4593' alt=\"\" style=\"border:0px;width:1px;height:1px;\" \/><\/p>","protected":false},"excerpt":{"rendered":"<p>Caracterizada como condi\u00e7\u00e3o multissist\u00eamica, a s\u00edndrome de Alagille compromete a qualidade de vida de quem convive com a doen\u00e7a e enfrenta desafios de diagn\u00f3stico e tratamento<\/p>","protected":false},"author":3,"featured_media":40137,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_seopress_titles_title":"","_seopress_titles_desc":"","_seopress_robots_index":"","_seopress_robots_follow":"","_seopress_robots_imageindex":"","_seopress_robots_snippet":"","_seopress_robots_primary_cat":"","_seopress_robots_breadcrumbs":"","_seopress_robots_freeze_modified_date":"","_seopress_robots_custom_modified_date":"","_seopress_robots_canonical":"","_seopress_social_fb_title":"","_seopress_social_fb_desc":"","_seopress_social_fb_img":"","_seopress_social_fb_img_attachment_id":0,"_seopress_social_fb_img_width":0,"_seopress_social_fb_img_height":0,"_seopress_social_twitter_title":"","_seopress_social_twitter_desc":"","_seopress_social_twitter_img":"","_seopress_social_twitter_img_attachment_id":0,"_seopress_social_twitter_img_width":0,"_seopress_social_twitter_img_height":0,"_seopress_redirections_value":"","_seopress_redirections_enabled":"","_seopress_redirections_enabled_regex":"","_seopress_redirections_logged_status":"","_seopress_redirections_param":"","_seopress_redirections_type":0,"_seopress_analysis_target_kw":"","page_builder":"","footnotes":""},"categories":[315],"tags":[359,369,352,351],"class_list":["post-40136","post","type-post","status-publish","format-standard","has-post-thumbnail","category-noticias-corporativas-dino","tag-ciencia","tag-politicas","tag-saude-e-bem-estar","tag-sociedade"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - 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