{"id":4977,"date":"2023-05-16T08:06:58","date_gmt":"2023-05-16T06:06:58","guid":{"rendered":"https:\/\/www.amyloidosisalliance.org\/o-que-e-a-amiloidose-attrv\/"},"modified":"2026-11-03T10:41:32","modified_gmt":"2026-11-03T09:41:32","slug":"o-que-e-a-amiloidose-attrv","status":"publish","type":"post","link":"https:\/\/www.amyloidosisalliance.org\/pt\/o-que-e-a-amiloidose-attrv\/","title":{"rendered":"O que \u00e9 a amiloidose ATTRv?"},"content":{"rendered":"\n

A amiloidose \u00e9 um grupo de doen\u00e7as raras caracterizadas pela deposi\u00e7\u00e3o anormal de prote\u00ednas amiloides (prote\u00ednas que se dobram mal ou se torcem para formar \u00abfibrilhas amiloides\u00bb) em v\u00e1rios \u00f3rg\u00e3os e tecidos do corpo, o que provoca a sua disfun\u00e7\u00e3o e pode ter consequ\u00eancias fatais. A amiloidose heredit\u00e1ria por transtirretina (ATTRv) \u00e9 um subtipo de amiloidose que afeta, entre outros \u00f3rg\u00e3os, o cora\u00e7\u00e3o, os nervos e o tubo digestivo. Mas, mais concretamente: o que \u00e9 a amiloidose ATTRv? Quais s\u00e3o os seus sintomas? Qual \u00e9 o seu impacto? Como \u00e9 diagnosticada? Quais s\u00e3o as op\u00e7\u00f5es de tratamento? Neste artigo, procuramos responder a todas estas perguntas com base na opini\u00e3o do Dr. Simon Gibs, expressa no artigo: https:\/\/bit.ly\/41Da2KO<\/a><\/p>\n\n

O que \u00e9 a ATTRv?<\/h2>\n\n

A amiloidose \u00e9 heredit\u00e1ria em cerca de 5% dos doentes com amiloidose. Na maioria dos casos, estes doentes t\u00eam aquilo a que chamamos \u00abATTRv\u00bb, antes designada hATTR (o \u00abh\u00bb significa \u00abheredit\u00e1ria\u00bb). O \u00abA\u00bb refere-se a amiloide, \u00abTTR\u00bb \u00e0 transtirretina, a prote\u00edna que se dobra mal, e o pequeno \u00abv\u00bb significa \u00abvariante\u00bb, porque os doentes com esta doen\u00e7a herdaram uma variante do gene que produz a prote\u00edna TTR.<\/p>\n\n

Como se trata de uma doen\u00e7a heredit\u00e1ria, outros membros da fam\u00edlia tamb\u00e9m podem ser afetados. Isto pode ser psicologicamente dif\u00edcil para os doentes, que muitas vezes viram um pai, uma m\u00e3e ou um familiar adoecer. Esta forma de amiloidose afeta cerca de 50 000 pessoas em todo o mundo.<\/p>\n\n

Sintomas e impacto<\/h2>\n\n

A ATTRv afeta o cora\u00e7\u00e3o e o t\u00fanel c\u00e1rpico dos doentes, mas tamb\u00e9m atinge com mais frequ\u00eancia os nervos. Por isso, os doentes com esta doen\u00e7a t\u00eam mais frequentemente falta de apetite, altera\u00e7\u00f5es do tr\u00e2nsito intestinal, tonturas e perda de peso, bem como dores ou c\u00e3ibras, dorm\u00eancia, formigueiro, ardor e sensa\u00e7\u00f5es de \u00abchoque el\u00e9trico\u00bb nas pernas. Al\u00e9m disso, devido ao envolvimento do cora\u00e7\u00e3o, os doentes podem ter outros sintomas: falta de ar, dificuldade em dormir, cansa\u00e7o intenso, diminui\u00e7\u00e3o do apetite e incha\u00e7o acentuado dos tornozelos.<\/p>\n\n

Com o tempo e a progress\u00e3o da doen\u00e7a, alguns doentes podem ter dificuldade em andar. Podem tamb\u00e9m perder for\u00e7a muscular, emagrecer muito e sofrer de diarreia alternada com obstipa\u00e7\u00e3o. A doen\u00e7a pode, por isso, afetar seriamente a qualidade de vida do doente, impedindo-o de trabalhar e de ter vida social. Pode mesmo tornar-se fisicamente incapacitante.<\/p>\n\n

O diagn\u00f3stico da ATTRv<\/h2>\n\n

O diagn\u00f3stico da ATTRv \u00e9 muitas vezes dif\u00edcil, devido \u00e0 grande variedade de sintomas e \u00e0 raridade da doen\u00e7a. No entanto, um diagn\u00f3stico precoce \u00e9 essencial para que os doentes sejam tratados a tempo e evitem les\u00f5es irrevers\u00edveis nos \u00f3rg\u00e3os. O diagn\u00f3stico combina geralmente testes gen\u00e9ticos, avalia\u00e7\u00e3o cl\u00ednica e exames de imagem, como a ecocardiografia e a resson\u00e2ncia magn\u00e9tica (RM).<\/p>\n\n

Para evitar este atraso no diagn\u00f3stico, o Dr. Simon Gibs, presidente da Australian Amyloidosis Network (AAN), explica que a principal miss\u00e3o da AAN \u00e9 dar a conhecer a doen\u00e7a no pa\u00eds. A AAN pretende formar os m\u00e9dicos, mostrar que a ATTRv n\u00e3o \u00e9 t\u00e3o rara como se pensa, destacar os tratamentos eficazes e dar a conhecer a exist\u00eancia de especialistas interessados nesta \u00e1rea.<\/p>\n\n

O acesso aos tratamentos<\/h2>\n\n

Existem atualmente dois tratamentos para a ATTRv aprovados pela FDA: o inotersen e o patisiran. Estes tratamentos podem atrasar a progress\u00e3o da doen\u00e7a e melhorar a qualidade de vida dos doentes. Estes e outros tratamentos s\u00e3o eficazes: n\u00e3o curam, mas abrandam a doen\u00e7a. Podem, no entanto, ser extremamente caros, e os doentes nem sempre t\u00eam acesso a eles.<\/p>\n\n

Na AAN, o lema \u00e9 \u00abTrabalhar em conjunto para encontrar uma cura\u00bb. A associa\u00e7\u00e3o defende os seus doentes:<\/p>\n\n

    \n
  • atraindo bons ensaios cl\u00ednicos para a Austr\u00e1lia<\/li>\n\n\n\n
  • promovendo programas de acesso compassivo<\/li>\n\n\n\n
  • trabalhando com as empresas farmac\u00eauticas para que os seus medicamentos sejam comercializados a um pre\u00e7o razo\u00e1vel<\/li>\n\n\n\n
  • pressionando o governo para que comparticipe os medicamentos<\/li>\n\n\n\n
  • e assim por diante<\/li>\n<\/ul>\n\n

    As necessidades n\u00e3o satisfeitas dos doentes<\/h2>\n\n

    O acompanhamento da ATTRv ainda deixa importantes necessidades por satisfazer. Muitos doentes enfrentam longos atrasos no diagn\u00f3stico, um acesso limitado a profissionais de sa\u00fade especializados e um apoio insuficiente para lidar com as consequ\u00eancias psicol\u00f3gicas e sociais da doen\u00e7a. \u00c9 tamb\u00e9m necess\u00e1ria mais investiga\u00e7\u00e3o para desenvolver novos tratamentos e compreender melhor os mecanismos da doen\u00e7a.<\/p>\n\n

    Al\u00e9m disso, um dos grandes desafios do acompanhamento global \u00e9 a nutri\u00e7\u00e3o. Se a subst\u00e2ncia amiloide se infiltrar nos nervos do est\u00f4mago, pode impedir o est\u00f4mago de relaxar e, portanto, de se esvaziar. Assim, o pequeno-almo\u00e7o pode ainda n\u00e3o estar digerido \u00e0 hora do jantar. A AAN considera que todos os doentes com ATTRv precisam provavelmente de um nutricionista para otimizar a alimenta\u00e7\u00e3o e reduzir ao m\u00ednimo a perda de peso.<\/p>\n\n

    <\/p>\n\n

    A ATTRv \u00e9 uma doen\u00e7a gen\u00e9tica rara e incapacitante que pode afetar seriamente a qualidade de vida dos doentes. Um diagn\u00f3stico precoce e o acesso a um tratamento adequado s\u00e3o essenciais para controlar a doen\u00e7a e melhorar a vida dos doentes.<\/p>\n","protected":false},"excerpt":{"rendered":"

    A amiloidose ATTRv \u00e9 a forma heredit\u00e1ria da amiloidose ATTR. Os seus sintomas, o seu impacto na vida quotidiana, o diagn\u00f3stico e as op\u00e7\u00f5es de tratamento, explicados de forma simples.<\/p>\n","protected":false},"author":1,"featured_media":4978,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[83],"tags":[],"class_list":["post-4977","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized-pt-pt"],"yoast_head":"\nO que \u00e9 a amiloidose ATTRv?<\/title>\n<meta name=\"description\" content=\"A amiloidose ATTRv \u00e9 a forma heredit\u00e1ria da amiloidose ATTR. 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