{"id":1735,"date":"2023-05-16T08:06:58","date_gmt":"2023-05-16T06:06:58","guid":{"rendered":"https:\/\/amyloidosisalliance.local\/quest-ce-que-lamylose-attrv\/"},"modified":"2026-09-29T15:32:19","modified_gmt":"2026-09-29T13:32:19","slug":"quest-ce-que-lamylose-attrv","status":"publish","type":"post","link":"https:\/\/www.amyloidosisalliance.org\/fr\/quest-ce-que-lamylose-attrv\/","title":{"rendered":"Qu\u2019est-ce que l\u2019amylose ATTRv\u202f?"},"content":{"rendered":"\n

L\u2019amylose est un groupe de maladies rares caract\u00e9ris\u00e9es par le d\u00e9p\u00f4t anormal de prot\u00e9ines amylo\u00efdes (des prot\u00e9ines qui se replient mal ou se tordent pour former des \u00ab\u00a0fibrilles amylo\u00efdes\u00a0\u00bb) dans diff\u00e9rents organes et tissus de l\u2019organisme, ce qui entra\u00eene leur dysfonctionnement et peut avoir des cons\u00e9quences mortelles. L\u2019amylose h\u00e9r\u00e9ditaire \u00e0 transthyr\u00e9tine (ATTRv) est un sous-type d\u2019amylose qui touche notamment le c\u0153ur, les nerfs et le tube digestif. Mais plus pr\u00e9cis\u00e9ment\u00a0: qu\u2019est-ce que l\u2019amylose ATTRv\u202f? Quels sont ses sympt\u00f4mes\u202f? Quels sont ses impacts\u202f? Comment est-elle diagnostiqu\u00e9e\u202f? Quelles sont les options de traitement\u202f? Dans cet article, nous tentons de r\u00e9pondre \u00e0 toutes ces questions en nous appuyant sur l\u2019avis du Dr Simon Gibs, donn\u00e9 dans l\u2019article\u00a0: https:\/\/bit.ly\/41Da2KO<\/a><\/p>\n\n

Qu\u2019est-ce que l\u2019ATTRv\u202f?<\/h2>\n\n

L\u2019amylose est h\u00e9r\u00e9ditaire chez environ 5 % des patients atteints d\u2019amylose. Le plus souvent, ces patients ont ce que l\u2019on appelle une \u00ab\u00a0ATTRv\u00a0\u00bb, autrefois appel\u00e9e hATTR (le \u00ab\u00a0h\u00a0\u00bb signifiant \u00ab\u00a0h\u00e9r\u00e9ditaire\u00a0\u00bb). Le \u00ab\u00a0A\u00a0\u00bb d\u00e9signe l\u2019amylose, \u00ab\u00a0TTR\u00a0\u00bb la transthyr\u00e9tine, la prot\u00e9ine qui se replie mal, et le petit \u00ab\u00a0v\u00a0\u00bb signifie \u00ab\u00a0variant\u00a0\u00bb, car les patients atteints de cette maladie ont h\u00e9rit\u00e9 d\u2019un variant du g\u00e8ne qui fabrique la prot\u00e9ine TTR.<\/p>\n\n

Comme il s\u2019agit d\u2019une maladie h\u00e9r\u00e9ditaire, d\u2019autres membres de la famille peuvent aussi \u00eatre touch\u00e9s. Cela peut \u00eatre psychologiquement difficile pour les patients, qui ont souvent vu un parent ou un proche tomber malade. Cette forme d\u2019amylose touche environ 50 000 personnes dans le monde.<\/p>\n\n

Sympt\u00f4mes et impacts<\/h2>\n\n

L\u2019ATTRv touche le c\u0153ur et le canal carpien des patients, mais elle touche aussi plus souvent les nerfs. Les patients atteints de cette maladie ont donc plus souvent un manque d\u2019app\u00e9tit, un transit irr\u00e9gulier, des vertiges et une perte de poids, ainsi que des douleurs ou des crampes, des engourdissements, des fourmillements, des br\u00fblures et des sensations de \u00ab\u00a0d\u00e9charge \u00e9lectrique\u00a0\u00bb dans les jambes. En raison de l\u2019atteinte du c\u0153ur, les patients peuvent aussi avoir d\u2019autres sympt\u00f4mes\u00a0: essoufflement, troubles du sommeil, grande fatigue, perte d\u2019app\u00e9tit et gonflement important des chevilles.<\/p>\n\n

Avec le temps et l\u2019\u00e9volution de la maladie, certains patients peuvent avoir du mal \u00e0 marcher. Ils peuvent aussi perdre de la force musculaire, beaucoup maigrir et souffrir d\u2019une alternance de diarrh\u00e9e et de constipation. La maladie peut donc peser lourdement sur la qualit\u00e9 de vie du patient, en l\u2019emp\u00eachant de travailler et d\u2019avoir une vie sociale. Elle peut m\u00eame devenir physiquement invalidante.<\/p>\n\n

Le diagnostic de l\u2019ATTRv<\/h2>\n\n

Le diagnostic de l\u2019ATTRv est souvent difficile en raison de la grande vari\u00e9t\u00e9 des sympt\u00f4mes et de la raret\u00e9 de la maladie. Un diagnostic pr\u00e9coce est pourtant essentiel pour que les patients soient trait\u00e9s \u00e0 temps et \u00e9vitent des l\u00e9sions irr\u00e9versibles des organes. Le diagnostic associe g\u00e9n\u00e9ralement test g\u00e9n\u00e9tique, examen clinique et examens d\u2019imagerie comme l\u2019\u00e9chocardiographie et l\u2019imagerie par r\u00e9sonance magn\u00e9tique (IRM).<\/p>\n\n

Pour \u00e9viter ce retard de diagnostic, le Dr Simon Gibs, pr\u00e9sident de l\u2019Australian Amyloidosis Network (AAN), explique que la mission principale de l\u2019AAN est de faire conna\u00eetre la maladie dans le pays. L\u2019AAN veut former les m\u00e9decins, faire savoir que l\u2019ATTRv n\u2019est pas aussi rare qu\u2019on le pense, mettre en avant les traitements efficaces et faire conna\u00eetre l\u2019existence de sp\u00e9cialistes qui s\u2019int\u00e9ressent \u00e0 ce domaine.<\/p>\n\n

L\u2019acc\u00e8s aux traitements<\/h2>\n\n

Il existe aujourd\u2019hui deux traitements de l\u2019ATTRv autoris\u00e9s par la FDA\u00a0: l\u2019inotersen et le patisiran. Ces traitements peuvent ralentir l\u2019\u00e9volution de la maladie et am\u00e9liorer la qualit\u00e9 de vie des patients. Ces traitements, comme d\u2019autres, sont efficaces\u00a0: ils ne gu\u00e9rissent pas, mais ils ralentissent la maladie. Ils peuvent toutefois \u00eatre extr\u00eamement co\u00fbteux, et les patients n\u2019y ont pas toujours acc\u00e8s.<\/p>\n\n

\u00c0 l\u2019AAN, la devise est \u00ab\u00a0Travailler ensemble pour trouver un traitement\u00a0\u00bb. L\u2019association d\u00e9fend ses patients en\u00a0:<\/p>\n\n

    \n
  • attirant de bons essais cliniques en Australie<\/li>\n\n\n\n
  • promouvant les programmes d\u2019acc\u00e8s compassionnel<\/li>\n\n\n\n
  • travaillant avec les entreprises pharmaceutiques pour que leurs m\u00e9dicaments soient commercialis\u00e9s \u00e0 un prix raisonnable<\/li>\n\n\n\n
  • faisant pression sur le gouvernement pour qu\u2019il prenne en charge les m\u00e9dicaments<\/li>\n\n\n\n
  • et ainsi de suite<\/li>\n<\/ul>\n\n

    Les besoins non couverts des patients<\/h2>\n\n

    La prise en charge de l\u2019ATTRv laisse encore d\u2019importants besoins non couverts. De nombreux patients font face \u00e0 de longs retards de diagnostic, \u00e0 un acc\u00e8s limit\u00e9 aux professionnels sp\u00e9cialis\u00e9s et \u00e0 un accompagnement insuffisant face aux cons\u00e9quences psychologiques et sociales de la maladie. Des recherches suppl\u00e9mentaires sont aussi n\u00e9cessaires pour d\u00e9velopper de nouveaux traitements et mieux comprendre les m\u00e9canismes de la maladie.<\/p>\n\n

    L\u2019un des grands enjeux de la prise en charge globale est aussi la nutrition. Si la substance amylo\u00efde infiltre les nerfs de l\u2019estomac, elle peut emp\u00eacher l\u2019estomac de se rel\u00e2cher et donc de se vider. Le petit-d\u00e9jeuner peut ainsi ne pas \u00eatre dig\u00e9r\u00e9 \u00e0 l\u2019heure du d\u00eener. L\u2019AAN estime que chaque patient atteint d\u2019ATTRv a probablement besoin d\u2019un di\u00e9t\u00e9ticien pour optimiser son alimentation et limiter au maximum la perte de poids.<\/p>\n\n

    <\/p>\n\n

    L\u2019ATTRv est une maladie g\u00e9n\u00e9tique rare et invalidante qui peut peser lourdement sur la qualit\u00e9 de vie des patients. Un diagnostic pr\u00e9coce et l\u2019acc\u00e8s \u00e0 un traitement adapt\u00e9 sont essentiels pour prendre en charge la maladie et am\u00e9liorer la vie des patients.<\/p>\n","protected":false},"excerpt":{"rendered":"

    L\u2019amylose ATTRv est la forme h\u00e9r\u00e9ditaire de l\u2019amylose ATTR. Ses sympt\u00f4mes, son impact sur la vie quotidienne, son diagnostic et les options de traitement, expliqu\u00e9s simplement.<\/p>\n","protected":false},"author":1,"featured_media":1736,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[24],"tags":[],"class_list":["post-1735","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-actualites"],"yoast_head":"\nQu\u2019est-ce que l\u2019amylose ATTRv\u202f?<\/title>\n<meta name=\"description\" content=\"L\u2019amylose ATTRv est la forme h\u00e9r\u00e9ditaire de l\u2019amylose ATTR. 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