{"id":1413,"date":"2026-07-10T16:07:22","date_gmt":"2026-07-10T14:07:22","guid":{"rendered":"https:\/\/amyloidosisalliance.local\/amyloses-hereditaires-rares\/"},"modified":"2026-09-29T11:03:52","modified_gmt":"2026-09-29T09:03:52","slug":"amyloses-hereditaires-rares","status":"publish","type":"page","link":"https:\/\/www.amyloidosisalliance.org\/fr\/types-damylose\/amyloses-hereditaires-rares\/","title":{"rendered":"Amyloses h\u00e9r\u00e9ditaires rares"},"content":{"rendered":"\n<nav class=\"wp-block-group aa-breadcrumb aa-events-hero__crumb is-layout-flow wp-block-group-is-layout-flow\" aria-label=\"Breadcrumb\">\n\t\n\t<div class=\"aa-inner\"><a href=\"\/\">Accueil<\/a><span class=\"aa-breadcrumb__sep\">\u203a<\/span><span class=\"aa-breadcrumb__label\">Amylose<\/span><span class=\"aa-breadcrumb__sep\">\u203a<\/span><a href=\"https:\/\/www.amyloidosisalliance.org\/fr\/types-damylose\/\">Types d\u2019amylose<\/a><span class=\"aa-breadcrumb__sep\">\u203a<\/span><a href=\"https:\/\/www.amyloidosisalliance.org\/fr\/types-damylose\/autres-types\/\">Autres types<\/a><span class=\"aa-breadcrumb__sep\">\u203a<\/span><span class=\"aa-breadcrumb__current\">Amyloses rares<\/span><\/div>\n\t\n<\/nav>\n\n<section class=\"wp-block-group aa-events-hero aa-events-hero--art aa-events-hero--rare is-layout-flow wp-block-group-is-layout-flow\">\n\t\n\t<div class=\"wp-block-group aa-inner is-layout-flow wp-block-group-is-layout-flow\">\n\t\t<p class=\"aa-events-hero__kicker wp-block-paragraph\">Autres types<\/p>\n\t\t<h1 class=\"wp-block-heading\">Amyloses h\u00e9r\u00e9ditaires rares<\/h1>\n\t\t<p class=\"wp-block-paragraph\">Au-del\u00e0 de la transthyr\u00e9tine, une poign\u00e9e d\u2019autres prot\u00e9ines h\u00e9r\u00e9ditaires peuvent se replier anormalement et former de la substance amylo\u00efde. Ces formes sont extr\u00eamement rares, n\u2019ont aucune signature clinique propre, et les reins en paient le prix. Identifier pr\u00e9cis\u00e9ment la prot\u00e9ine n\u2019est pas un d\u00e9tail th\u00e9orique\u00a0: c\u2019est ce qui d\u00e9cide du traitement.<\/p>\n\t<\/div>\n\t\n\t\n\t<div class=\"wp-block-group aa-events-hero__art is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\n\t\t<figure class=\"wp-block-image size-full\"><img decoding=\"async\" src=\"\/wp-content\/themes\/amyloidosis-alliance\/assets\/images\/disease\/rare.svg\" alt=\"Sch&#xE9;ma&#xA0;: plusieurs prot&#xE9;ines h&#xE9;r&#xE9;ditaires diff&#xE9;rentes se replient mal, s&#x2019;alignent et s&#x2019;empilent en une fibrille amylo&#xEF;de\"\/><\/figure>\n\t\t\n\t<\/div>\n\t\n<\/section>\n\n<nav class=\"wp-block-group aa-anchorband is-layout-flow wp-block-group-is-layout-flow\" aria-label=\"Section navigation\">\n\t\n\t<div class=\"wp-block-group aa-inner is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\n\t\t<div class=\"wp-block-columns aa-anchor-cols is-layout-flex wp-container-core-columns-is-layout-b2e659ba wp-block-columns-is-layout-flex\">\n\t\t\t<div class=\"wp-block-column aa-anchor-item is-layout-flow wp-block-column-is-layout-flow\"><p class=\"num wp-block-paragraph\">01<\/p><p class=\"lbl wp-block-paragraph\"><a href=\"#what\">De quoi s\u2019agit-il\u202f?<\/a><\/p><\/div>\n\t\t\t<div class=\"wp-block-column aa-anchor-item is-layout-flow wp-block-column-is-layout-flow\"><p class=\"num wp-block-paragraph\">02<\/p><p class=\"lbl wp-block-paragraph\"><a href=\"#proteins\">Les prot\u00e9ines<\/a><\/p><\/div>\n\t\t\t<div class=\"wp-block-column aa-anchor-item is-layout-flow wp-block-column-is-layout-flow\"><p class=\"num wp-block-paragraph\">03<\/p><p class=\"lbl wp-block-paragraph\"><a href=\"#symptoms\">Sympt\u00f4mes<\/a><\/p><\/div>\n\t\t\t<div class=\"wp-block-column aa-anchor-item is-layout-flow wp-block-column-is-layout-flow\"><p class=\"num wp-block-paragraph\">04<\/p><p class=\"lbl wp-block-paragraph\"><a href=\"#diagnosis\">Diagnostic<\/a><\/p><\/div>\n\t\t\t<div class=\"wp-block-column aa-anchor-item is-layout-flow wp-block-column-is-layout-flow\"><p class=\"num wp-block-paragraph\">05<\/p><p class=\"lbl wp-block-paragraph\"><a href=\"#treatment\">Traitement<\/a><\/p><\/div>\n\t\t\t<div class=\"wp-block-column aa-anchor-item is-layout-flow wp-block-column-is-layout-flow\"><p class=\"num wp-block-paragraph\">06<\/p><p class=\"lbl wp-block-paragraph\"><a href=\"#follow-up\">Suivi<\/a><\/p><\/div>\n\t\t<\/div>\n\t\t\n\t<\/div>\n\t\n<\/nav>\n\n<section class=\"wp-block-group aa-section aa-section--white aa-what is-layout-flow wp-block-group-is-layout-flow\" id=\"what\">\n\t\n\t<div class=\"wp-block-group aa-inner is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\n\t\t<div class=\"wp-block-group is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t<p class=\"aa-section-num wp-block-paragraph\">01<\/p>\n\t\t\t<h2 class=\"wp-block-heading\">De quoi s\u2019agit-il\u202f?<\/h2>\n\t\t\t\n\t\t\t<div class=\"wp-block-group aa-key-idea is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t\t<p class=\"aa-key-idea__label wp-block-paragraph\">\u00c0 retenir<\/p>\n\t\t\t\t<p class=\"wp-block-paragraph\">Ces formes ne peuvent pas \u00eatre reconnues \u00e0 l\u2019examen clinique. Elles n\u2019ont aucune signature clinique propre. Seule l\u2019identification de la prot\u00e9ine indique au m\u00e9decin ce qu\u2019il faut faire.<\/p>\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\n\t\t\n\t\t<div class=\"wp-block-group aa-what-cols is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t\n\t\t\t<div class=\"wp-block-group aa-what-col is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t\t<h4 class=\"wp-block-heading\">Au-del\u00e0 de la transthyr\u00e9tine<\/h4>\n\t\t\t\t<p class=\"wp-block-paragraph\">\u00c0 c\u00f4t\u00e9 des amyloses \u00e0 transthyr\u00e9tine, plusieurs autres formes h\u00e9r\u00e9ditaires sont dues \u00e0 des mutations de prot\u00e9ines tout \u00e0 fait diff\u00e9rentes. Chaque mutation modifie le code g\u00e9n\u00e9tique de telle sorte qu\u2019une prot\u00e9ine se replie mal, et la prot\u00e9ine mal repli\u00e9e se d\u00e9pose sous forme de substance amylo\u00efde.<\/p>\n\t\t\t\t<p class=\"wp-block-paragraph\">La transthyr\u00e9tine reste de loin la plus fr\u00e9quente des formes h\u00e9r\u00e9ditaires. Les autres formes d\u00e9crites sur cette page sont <strong>extr\u00eamement rares<\/strong>.<\/p>\n\t\t\t<\/div>\n\t\t\t\n\t\t\t\n\t\t\t<div class=\"wp-block-group aa-what-col is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t\t<h4 class=\"wp-block-heading\">Aucune signature propre<\/h4>\n\t\t\t\t<p class=\"wp-block-paragraph\">Elles ne pr\u00e9sentent aucun signe clinique distinctif. Rien dans les sympt\u00f4mes n\u2019oriente vers une prot\u00e9ine plut\u00f4t qu\u2019une autre\u00a0: c\u2019est pourquoi elles passent si facilement inaper\u00e7ues, et pourquoi le laboratoire a le dernier mot.<\/p>\n\t\t\t\t<p class=\"wp-block-paragraph\">Les <strong>reins<\/strong> sont la cible principale. Les autres organes touch\u00e9s d\u00e9pendent enti\u00e8rement de la prot\u00e9ine qui a mut\u00e9.<\/p>\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\n\t<\/div>\n\t\n<\/section>\n\n<section class=\"wp-block-group aa-section aa-section--cream aa-r-proteins-sec is-layout-flow wp-block-group-is-layout-flow\" id=\"proteins\">\n\t\n\t<div class=\"wp-block-group aa-inner is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\n\t\t<div class=\"wp-block-group aa-centered-head is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t<p class=\"aa-section-num wp-block-paragraph\">02<\/p>\n\t\t\t<h2 class=\"wp-block-heading\">Les prot\u00e9ines en cause<\/h2>\n\t\t\t<div class=\"aa-divider-dot\"><\/div>\n\t\t\t<p class=\"wp-block-paragraph\">Toutes se transmettent sur le mode autosomique dominant. Chacune a son propre tropisme et, surtout, son propre traitement.<\/p>\n\t\t<\/div>\n\t\t\n\t\t\n\t\t<div class=\"wp-block-group aa-r-proteins is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t<div class=\"wp-block-group aa-rare-row is-layout-flow wp-block-group-is-layout-flow\"><p class=\"aa-rare-row__name wp-block-paragraph\">AFib<\/p><p class=\"aa-rare-row__desc wp-block-paragraph\">Mutation de la cha\u00eene alpha du fibrinog\u00e8ne. Une maladie exclusivement r\u00e9nale, et l\u2019une des formes h\u00e9r\u00e9ditaires les plus fr\u00e9quentes en Europe de l\u2019Ouest. La prot\u00e9ine est fabriqu\u00e9e par le foie, ce qui ouvre une piste th\u00e9rapeutique que les autres formes n\u2019ont pas.<\/p><\/div>\n\t\t\t<div class=\"wp-block-group aa-rare-row is-layout-flow wp-block-group-is-layout-flow\"><p class=\"aa-rare-row__name wp-block-paragraph\">AApoAI<\/p><p class=\"aa-rare-row__desc wp-block-paragraph\">Mutation de l\u2019apolipoprot\u00e9ine A-I. Touche les reins, le foie et les nerfs p\u00e9riph\u00e9riques. Plusieurs membres de la famille des apolipoprot\u00e9ines peuvent \u00eatre en cause\u00a0: A-I, A-II, A-IV, C-II et C-III.<\/p><\/div>\n\t\t\t<div class=\"wp-block-group aa-rare-row is-layout-flow wp-block-group-is-layout-flow\"><p class=\"aa-rare-row__name wp-block-paragraph\">ALys<\/p><p class=\"aa-rare-row__desc wp-block-paragraph\">Mutation du lysozyme. Atteinte r\u00e9nale au premier plan, avec aussi des d\u00e9p\u00f4ts dans le foie. La prot\u00e9ine est produite par plusieurs tissus, pas seulement par le foie, ce qui change tout pour son traitement.<\/p><\/div>\n\t\t\t<div class=\"wp-block-group aa-rare-row is-layout-flow wp-block-group-is-layout-flow\"><p class=\"aa-rare-row__name wp-block-paragraph\">AGel<\/p><p class=\"aa-rare-row__desc wp-block-paragraph\">Mutation de la gelsoline. Provoque surtout une neuropathie cr\u00e2nienne et une dystrophie corn\u00e9enne grillag\u00e9e. Plus fr\u00e9quente en Finlande.<\/p><\/div>\n\t\t<\/div>\n\t\t\n\t<\/div>\n\t\n<\/section>\n\n<section class=\"wp-block-group aa-section aa-section--white aa-tp-symptoms is-layout-flow wp-block-group-is-layout-flow\" id=\"symptoms\">\n\t\n\t<div class=\"wp-block-group aa-inner is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\n\t\t<div class=\"wp-block-group aa-centered-head is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t<p class=\"aa-section-num wp-block-paragraph\">03<\/p>\n\t\t\t<h2 class=\"wp-block-heading\">Sympt\u00f4mes<\/h2>\n\t\t\t<div class=\"aa-divider-dot\"><\/div>\n\t\t\t<p class=\"wp-block-paragraph\">Pendant longtemps, on ne ressent rien, tandis que les d\u00e9p\u00f4ts s\u2019accumulent en silence. Les sympt\u00f4mes, quand ils arrivent, sont ceux d\u2019un rein qui s\u2019\u00e9puise depuis des ann\u00e9es.<\/p>\n\t\t<\/div>\n\t\t\n\t\t\n\t\t<div class=\"wp-block-group aa-tp-organs aa-tp-organs--major is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t<div class=\"wp-block-group aa-tp-organ is-layout-flow wp-block-group-is-layout-flow\"><h3 class=\"wp-block-heading\">Les reins<\/h3><p class=\"aa-tp-organ__tag wp-block-paragraph\">La cible principale<\/p><p class=\"wp-block-paragraph\">La phase initiale est silencieuse\u00a0: la substance amylo\u00efde s\u2019installe dans le rein sans se manifester. Viennent ensuite le gonflement des chevilles, l\u2019hypertension art\u00e9rielle, la fatigue, la p\u00e2leur et l\u2019essoufflement, les sympt\u00f4mes g\u00e9n\u00e9raux d\u2019une insuffisance r\u00e9nale avanc\u00e9e.<\/p><\/div>\n\t\t\t<div class=\"wp-block-group aa-tp-organ is-layout-flow wp-block-group-is-layout-flow\"><h3 class=\"wp-block-heading\">Autres organes<\/h3><p class=\"aa-tp-organ__tag wp-block-paragraph\">Cela d\u00e9pend de la prot\u00e9ine<\/p><p class=\"wp-block-paragraph\">Au-del\u00e0 des reins, le tableau change d\u2019une mutation \u00e0 l\u2019autre\u00a0: le foie, les nerfs p\u00e9riph\u00e9riques, la corn\u00e9e. Deux personnes ayant les m\u00eames sympt\u00f4mes peuvent avoir deux maladies diff\u00e9rentes.<\/p><\/div>\n\t\t\t<div class=\"wp-block-group aa-tp-organ is-layout-flow wp-block-group-is-layout-flow\"><h3 class=\"wp-block-heading\">Ce que montrent les examens<\/h3><p class=\"aa-tp-organ__tag wp-block-paragraph\">Avant les sympt\u00f4mes<\/p><p class=\"wp-block-paragraph\">La pr\u00e9sence de prot\u00e9ines dans les urines, la prot\u00e9inurie, est souvent la premi\u00e8re anomalie constat\u00e9e. Une cr\u00e9atinine qui augmente dans le sang signale que le rein ne filtre plus comme il le devrait.<\/p><\/div>\n\t\t<\/div>\n\t\t\n\t\t\n\t\t<div class=\"wp-block-group aa-tp-flags is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t\n\t\t\t<div class=\"wp-block-group aa-tp-flags__photo is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t\t<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"683\" src=\"https:\/\/www.amyloidosisalliance.org\/wp-content\/uploads\/2026\/09\/a-patient-and-a-clinician-reviewing-results-together-1024x683.jpg\" alt=\"Une patiente et un clinicien examinant ensemble des r&#xE9;sultats\" class=\"wp-image-687\" srcset=\"https:\/\/www.amyloidosisalliance.org\/wp-content\/uploads\/2026\/09\/a-patient-and-a-clinician-reviewing-results-together-1024x683.jpg 1024w, https:\/\/www.amyloidosisalliance.org\/wp-content\/uploads\/2026\/09\/a-patient-and-a-clinician-reviewing-results-together-300x200.jpg 300w, https:\/\/www.amyloidosisalliance.org\/wp-content\/uploads\/2026\/09\/a-patient-and-a-clinician-reviewing-results-together-768x512.jpg 768w, https:\/\/www.amyloidosisalliance.org\/wp-content\/uploads\/2026\/09\/a-patient-and-a-clinician-reviewing-results-together-1536x1024.jpg 1536w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\t\t\t<\/div>\n\t\t\t\n\t\t\t\n\t\t\t<div class=\"wp-block-group aa-tp-flags__body is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t\t<h3 class=\"wp-block-heading\">Quand consulter<\/h3>\n\t\t\t\t<p class=\"wp-block-paragraph\">Aucun de ces signes n\u2019est propre \u00e0 l\u2019amylose. Ce qui doit faire poser la question, c\u2019est leur association avec des ant\u00e9c\u00e9dents familiaux de la maladie.<\/p>\n\t\t\t\t\n\t\t\t\t<ul class=\"wp-block-list aa-tp-flags__list\">\n\t\t\t\t\t<li>Un gonflement des chevilles<\/li>\n\t\t\t\t\t<li>Une hypertension art\u00e9rielle<\/li>\n\t\t\t\t\t<li>Fatigue et p\u00e2leur<\/li>\n\t\t\t\t\t<li>Un essoufflement<\/li>\n\t\t\t\t\t<li>Des prot\u00e9ines dans les urines<\/li>\n\t\t\t\t\t<li>Une cr\u00e9atinine en hausse aux analyses de sang<\/li>\n\t\t\t\t\t<li>Une amylose chez un parent, un fr\u00e8re, une s\u0153ur ou un enfant<\/li>\n\t\t\t\t<\/ul>\n\t\t\t\t\n\t\t\t\t\n\t\t\t\t<div class=\"wp-block-group aa-tp-alert is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t\t\t<p class=\"wp-block-paragraph\">Pendant longtemps, on ne ressent rien. Les d\u00e9p\u00f4ts s\u2019accumulent dans le rein en silence, et le premier signe est souvent un r\u00e9sultat d\u2019analyse.<\/p>\n\t\t\t\t<\/div>\n\t\t\t\t\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\n\t<\/div>\n\t\n<\/section>\n\n<section class=\"wp-block-group aa-section aa-section--cream aa-tp-dx is-layout-flow wp-block-group-is-layout-flow\" id=\"diagnosis\">\n\t\n\t<div class=\"wp-block-group aa-inner is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\n\t\t<div class=\"wp-block-group aa-tp-dx__body is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t<p class=\"aa-section-num wp-block-paragraph\">04<\/p>\n\t\t\t<h2 class=\"wp-block-heading\">Comment elles sont diagnostiqu\u00e9es<\/h2>\n\t\t\t<p class=\"aa-tp-dx__intro wp-block-paragraph\">Comme rien dans le tableau clinique ne distingue l\u2019une de ces formes d\u2019une autre, tout le diagnostic repose sur le laboratoire, et, au bout du compte, sur un g\u00e8ne.<\/p>\n\t\t\t\n\t\t\t<div class=\"wp-block-group aa-tp-dx__steps is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t\t<div class=\"wp-block-group aa-tp-dx__step is-layout-flow wp-block-group-is-layout-flow\"><p class=\"aa-tp-dx__step-num wp-block-paragraph\">01<\/p><h4 class=\"wp-block-heading\">Des ant\u00e9c\u00e9dents familiaux<\/h4><p class=\"wp-block-paragraph\">Une amylose chez les parents, les fr\u00e8res et s\u0153urs ou les enfants. Plusieurs membres touch\u00e9s orientent vers une forme g\u00e9n\u00e9tique, m\u00eame si un cas unique et isol\u00e9 reste tout \u00e0 fait possible.<\/p><\/div>\n\t\t\t\t<div class=\"wp-block-group aa-tp-dx__step is-layout-flow wp-block-group-is-layout-flow\"><p class=\"aa-tp-dx__step-num wp-block-paragraph\">02<\/p><h4 class=\"wp-block-heading\">Trouver la substance amylo\u00efde<\/h4><p class=\"wp-block-paragraph\">Une biopsie d\u2019un site accessible\u00a0: les glandes salivaires, le tube digestif. Le plus souvent, c\u2019est une biopsie r\u00e9nale, r\u00e9alis\u00e9e sans m\u00eame que l\u2019on suspecte une amylose, qui la r\u00e9v\u00e8le. La coloration au rouge Congo confirme les d\u00e9p\u00f4ts.<\/p><\/div>\n\t\t\t\t<div class=\"wp-block-group aa-tp-dx__step is-layout-flow wp-block-group-is-layout-flow\"><p class=\"aa-tp-dx__step-num wp-block-paragraph\">03<\/p><h4 class=\"wp-block-heading\">La typer<\/h4><p class=\"wp-block-paragraph\">L\u2019immunohistochimie, avec des anticorps propres \u00e0 chaque prot\u00e9ine, permet de d\u00e9terminer laquelle s\u2019est d\u00e9pos\u00e9e.<\/p><\/div>\n\t\t\t\t<div class=\"wp-block-group aa-tp-dx__step is-layout-flow wp-block-group-is-layout-flow\"><p class=\"aa-tp-dx__step-num wp-block-paragraph\">04<\/p><h4 class=\"wp-block-heading\">Le test g\u00e9n\u00e9tique<\/h4><p class=\"wp-block-paragraph\">C\u2019est la m\u00e9thode de r\u00e9f\u00e9rence. Il nomme la prot\u00e9ine et, en la nommant, il nomme le traitement.<\/p><\/div>\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\n\t\t\n\t\t<div class=\"wp-block-group aa-tp-dx__photo is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"643\" src=\"https:\/\/www.amyloidosisalliance.org\/wp-content\/uploads\/2026\/09\/a-laboratory-technician-pipetting-samples-into-tubes-1024x643.jpg\" alt=\"Une technicienne de laboratoire pipetant des &#xE9;chantillons dans des tubes\" class=\"wp-image-688\" srcset=\"https:\/\/www.amyloidosisalliance.org\/wp-content\/uploads\/2026\/09\/a-laboratory-technician-pipetting-samples-into-tubes-1024x643.jpg 1024w, https:\/\/www.amyloidosisalliance.org\/wp-content\/uploads\/2026\/09\/a-laboratory-technician-pipetting-samples-into-tubes-300x188.jpg 300w, https:\/\/www.amyloidosisalliance.org\/wp-content\/uploads\/2026\/09\/a-laboratory-technician-pipetting-samples-into-tubes-768x482.jpg 768w, https:\/\/www.amyloidosisalliance.org\/wp-content\/uploads\/2026\/09\/a-laboratory-technician-pipetting-samples-into-tubes-1536x964.jpg 1536w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\t\t<\/div>\n\t\t\n\t<\/div>\n\t\n<\/section>\n\n<section class=\"wp-block-group aa-section aa-section--white aa-treating is-layout-flow wp-block-group-is-layout-flow\" id=\"treatment\">\n\t\n\t<div class=\"wp-block-group aa-inner is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\n\t\t<div class=\"wp-block-group aa-centered-head is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t<p class=\"aa-section-num wp-block-paragraph\">05<\/p>\n\t\t\t<h2 class=\"wp-block-heading\">Traitement<\/h2>\n\t\t\t<div class=\"aa-divider-dot\"><\/div>\n\t\t\t<p class=\"wp-block-paragraph\">Voici pourquoi un diagnostic pr\u00e9cis compte autant.<\/p>\n\t\t<\/div>\n\t\t\n\t\t\n\t\t<div class=\"wp-block-group aa-tp-alert aa-tp-alert--wide is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t<p class=\"wp-block-paragraph\">Les sympt\u00f4mes peuvent \u00eatre identiques d\u2019une forme rare \u00e0 l\u2019autre, alors que les traitements sont totalement diff\u00e9rents. \u00c9tablir pr\u00e9cis\u00e9ment de laquelle il s\u2019agit change ce qui peut \u00eatre fait.<\/p>\n\t\t<\/div>\n\t\t\n\t\t\n\t\t<div class=\"wp-block-group aa-tp-treat-lead is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t\n\t\t\t<div class=\"wp-block-group aa-tp-treat-lead__photo is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t\t<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"683\" src=\"https:\/\/www.amyloidosisalliance.org\/wp-content\/uploads\/2026\/09\/surgeons-at-work-in-an-operating-theatre-1024x683.jpg\" alt=\"Des chirurgiens au travail dans un bloc op&#xE9;ratoire\" class=\"wp-image-689\" srcset=\"https:\/\/www.amyloidosisalliance.org\/wp-content\/uploads\/2026\/09\/surgeons-at-work-in-an-operating-theatre-1024x683.jpg 1024w, https:\/\/www.amyloidosisalliance.org\/wp-content\/uploads\/2026\/09\/surgeons-at-work-in-an-operating-theatre-300x200.jpg 300w, https:\/\/www.amyloidosisalliance.org\/wp-content\/uploads\/2026\/09\/surgeons-at-work-in-an-operating-theatre-768x512.jpg 768w, https:\/\/www.amyloidosisalliance.org\/wp-content\/uploads\/2026\/09\/surgeons-at-work-in-an-operating-theatre-1536x1024.jpg 1536w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\t\t\t<\/div>\n\t\t\t\n\t\t\t\n\t\t\t<div class=\"wp-block-group aa-tp-treat-lead__body is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t\t<h3 class=\"wp-block-heading\">Arr\u00eater la production \u00e0 la source<\/h3>\n\t\t\t\t<p class=\"wp-block-paragraph\">Le traitement de fond consiste \u00e0 supprimer la production de la prot\u00e9ine mut\u00e9e. Ce n\u2019est possible que lorsque la prot\u00e9ine est fabriqu\u00e9e par le foie, car un foie peut \u00eatre remplac\u00e9.<\/p>\n\t\t\t\t<p class=\"wp-block-paragraph\">La cha\u00eene alpha du fibrinog\u00e8ne est fabriqu\u00e9e par le foie\u00a0: une greffe de foie agit donc sur la cause. Le lysozyme est produit par plusieurs tissus \u00e0 la fois, et aucune greffe ne peut tous les supprimer. M\u00eame insuffisance r\u00e9nale, m\u00eame aspect au microscope, conclusions oppos\u00e9es.<\/p>\n\t\t\t<\/div>\n\t\t\t\n\t\t<\/div>\n\t\t\n\t\t\n\t\t<div class=\"wp-block-group aa-treating-grid is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t<div class=\"wp-block-group aa-treating-card is-layout-flow wp-block-group-is-layout-flow\"><span class=\"aa-icon-tile\"><svg aria-hidden=\"true\" focusable=\"false\" width=\"24\" height=\"24\" viewbox=\"0 0 24 24\" fill=\"none\" stroke=\"currentColor\" stroke-width=\"1.75\" stroke-linecap=\"round\" stroke-linejoin=\"round\"><path d=\"M4 3v10a4 4 0 0 0 8 0V7a3 3 0 0 1 6 0v8\"><\/path><circle cx=\"18\" cy=\"18\" r=\"3\"><\/circle><\/svg><\/span><h3 class=\"wp-block-heading\">Greffe de foie<\/h3><p class=\"wp-block-paragraph\">Possible lorsque la prot\u00e9ine mut\u00e9e est fabriqu\u00e9e par le foie, comme c\u2019est le cas pour la cha\u00eene alpha du fibrinog\u00e8ne. Pas envisageable pour le lysozyme, que produisent plusieurs tissus.<\/p><\/div>\n\t\t\t<div class=\"wp-block-group aa-treating-card is-layout-flow wp-block-group-is-layout-flow\"><span class=\"aa-icon-tile\"><svg aria-hidden=\"true\" focusable=\"false\" width=\"24\" height=\"24\" viewbox=\"0 0 24 24\" fill=\"none\" stroke=\"currentColor\" stroke-width=\"1.75\" stroke-linecap=\"round\" stroke-linejoin=\"round\"><path d=\"M12 22a7 7 0 0 0 7-7c0-2-1-3.9-3-5.5s-3.5-4-4-6.5c-.5 2.5-2 4.9-4 6.5S5 13 5 15a7 7 0 0 0 7 7z\"><\/path><\/svg><\/span><h3 class=\"wp-block-heading\">Dialyse<\/h3><p class=\"wp-block-paragraph\">Lorsque les reins ne peuvent plus assurer leur fonction, la dialyse prend le relais. Elle maintient en vie, mais n\u2019agit pas sur la cause.<\/p><\/div>\n\t\t\t<div class=\"wp-block-group aa-treating-card is-layout-flow wp-block-group-is-layout-flow\"><span class=\"aa-icon-tile\"><svg aria-hidden=\"true\" focusable=\"false\" width=\"24\" height=\"24\" viewbox=\"0 0 24 24\" fill=\"none\" stroke=\"currentColor\" stroke-width=\"1.75\" stroke-linecap=\"round\" stroke-linejoin=\"round\"><path d=\"M22 11.08V12a10 10 0 1 1-5.93-9.14\"><\/path><polyline points=\"22 4 12 14.01 9 11.01\"><\/polyline><\/svg><\/span><h3 class=\"wp-block-heading\">Greffe de rein<\/h3><p class=\"wp-block-paragraph\">Souvent possible, et souvent d\u00e9cisive. Mais elle remplace l\u2019organe, pas la source\u00a0: la maladie peut r\u00e9appara\u00eetre dans le rein greff\u00e9.<\/p><\/div>\n\t\t<\/div>\n\t\t\n\t<\/div>\n\t\n<\/section>\n\n<section class=\"wp-block-group aa-section aa-section--forest aa-tp-outlook is-layout-flow wp-block-group-is-layout-flow\" id=\"follow-up\">\n\t\n\t<div class=\"wp-block-group aa-inner is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\n\t\t<div class=\"wp-block-group aa-tp-outlook__photo is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"683\" src=\"https:\/\/www.amyloidosisalliance.org\/wp-content\/uploads\/2026\/09\/a-clinician-discussing-medical-imaging-with-a-patient-1024x683.jpg\" alt=\"Un clinicien commentant des images m&#xE9;dicales avec un patient\" class=\"wp-image-690\" srcset=\"https:\/\/www.amyloidosisalliance.org\/wp-content\/uploads\/2026\/09\/a-clinician-discussing-medical-imaging-with-a-patient-1024x683.jpg 1024w, https:\/\/www.amyloidosisalliance.org\/wp-content\/uploads\/2026\/09\/a-clinician-discussing-medical-imaging-with-a-patient-300x200.jpg 300w, https:\/\/www.amyloidosisalliance.org\/wp-content\/uploads\/2026\/09\/a-clinician-discussing-medical-imaging-with-a-patient-768x512.jpg 768w, https:\/\/www.amyloidosisalliance.org\/wp-content\/uploads\/2026\/09\/a-clinician-discussing-medical-imaging-with-a-patient-1536x1024.jpg 1536w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\t\t<\/div>\n\t\t\n\t\t\n\t\t<div class=\"wp-block-group aa-tp-outlook__body is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t<p class=\"aa-section-num wp-block-paragraph\">06<\/p>\n\t\t\t<h2 class=\"wp-block-heading\">Suivi<\/h2>\n\t\t\t<h4 class=\"wp-block-heading\">Surveiller les reins<\/h4>\n\t\t\t<p class=\"wp-block-paragraph\">Le suivi s\u2019organise autour de la fonction r\u00e9nale. Elle est mesur\u00e9e, et mesur\u00e9e encore, car c\u2019est elle qui d\u00e9termine l\u2019\u00e9volution de la maladie et le moment o\u00f9 une greffe devient n\u00e9cessaire.<\/p>\n\t\t\t<h4 class=\"wp-block-heading\">Une \u00e9volution impr\u00e9visible<\/h4>\n\t\t\t<p class=\"wp-block-paragraph\">L\u2019\u00e9volution de ces maladies ne peut pas \u00eatre pr\u00e9vue. La fonction r\u00e9nale peut d\u00e9cliner lentement sur de nombreuses ann\u00e9es, ou rapidement. C\u2019est pr\u00e9cis\u00e9ment cette impr\u00e9visibilit\u00e9 qui rend la surveillance continue plut\u00f4t qu\u2019occasionnelle.<\/p>\n\t\t\t<p class=\"aa-tp-outlook__closing wp-block-paragraph\">Leur raret\u00e9 fait la difficult\u00e9. Identifier la prot\u00e9ine, c\u2019est ce qui transforme une maladie que personne ne sait traiter en une maladie que l\u2019on peut traiter.<\/p>\n\t\t<\/div>\n\t\t\n\t<\/div>\n\t\n<\/section>\n\n<section class=\"wp-block-group aa-section aa-section--white aa-tp-faq is-layout-flow wp-block-group-is-layout-flow\">\n\t\n\t<div class=\"wp-block-group aa-inner is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\n\t\t<div class=\"wp-block-group aa-centered-head is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t<p class=\"aa-section-num wp-block-paragraph\">FAQ<\/p>\n\t\t\t<h2 class=\"wp-block-heading\">Questions fr\u00e9quentes<\/h2>\n\t\t\t<div class=\"aa-divider-dot\"><\/div>\n\t\t<\/div>\n\t\t\n\t\t\n\t\t<div class=\"wp-block-group aa-acc is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t\n\t\t\t<details class=\"wp-block-details is-layout-flow wp-block-details-is-layout-flow\"><summary>Ces formes sont-elles h\u00e9r\u00e9ditaires\u202f?<\/summary>\n\t\t\t<p class=\"wp-block-paragraph\">Oui. Elles se transmettent sur le mode autosomique dominant, comme l\u2019amylose ATTR h\u00e9r\u00e9ditaire. Une mutation chez un seul parent suffit. Cela dit, un cas isol\u00e9 dans une famille sans ant\u00e9c\u00e9dent connu est tout \u00e0 fait possible.<\/p>\n\t\t\t<\/details>\n\t\t\t\n\t\t\t\n\t\t\t<details class=\"wp-block-details is-layout-flow wp-block-details-is-layout-flow\"><summary>Pourquoi la prot\u00e9ine exacte compte-t-elle autant\u202f?<\/summary>\n\t\t\t<p class=\"wp-block-paragraph\">Parce que les traitements n\u2019ont presque rien en commun, alors que les sympt\u00f4mes peuvent \u00eatre impossibles \u00e0 distinguer. Une greffe de foie agit sur la cause de la forme li\u00e9e au fibrinog\u00e8ne et ne peut rien pour la forme li\u00e9e au lysozyme. Deux patients dont les reins s\u2019\u00e9puisent de la m\u00eame fa\u00e7on ont besoin de deux r\u00e9ponses diff\u00e9rentes, et seul le laboratoire peut dire laquelle.<\/p>\n\t\t\t<\/details>\n\t\t\t\n\t\t\t\n\t\t\t<details class=\"wp-block-details is-layout-flow wp-block-details-is-layout-flow\"><summary>Puis-je me faire tester\u202f?<\/summary>\n\t\t\t<p class=\"wp-block-paragraph\">Un test g\u00e9n\u00e9tique existe et c\u2019est la m\u00e9thode de r\u00e9f\u00e9rence. En France, il est encadr\u00e9\u00a0: r\u00e9serv\u00e9 aux adultes, pr\u00e9c\u00e9d\u00e9 d\u2019entretiens avec un psychologue, avec un rendu des r\u00e9sultats apr\u00e8s plusieurs semaines. Le d\u00e9pistage commence g\u00e9n\u00e9ralement par les fr\u00e8res et s\u0153urs et les enfants adultes. Les r\u00e8gles diff\u00e8rent d\u2019un pays \u00e0 l\u2019autre\u00a0: votre centre vous dira ce qui s\u2019applique l\u00e0 o\u00f9 vous vivez.<\/p>\n\t\t\t<\/details>\n\t\t\t\n\t\t\t\n\t\t\t<details class=\"wp-block-details is-layout-flow wp-block-details-is-layout-flow\"><summary>Quel organe est touch\u00e9\u202f?<\/summary>\n\t\t\t<p class=\"wp-block-paragraph\">Le rein, principalement, dans toutes ces formes. Au-del\u00e0, cela d\u00e9pend de la prot\u00e9ine\u00a0: le foie, les nerfs p\u00e9riph\u00e9riques ou la corn\u00e9e peuvent aussi \u00eatre atteints. Aucune combinaison de sympt\u00f4mes ne permet d\u2019identifier une forme plut\u00f4t qu\u2019une autre.<\/p>\n\t\t\t<\/details>\n\t\t\t\n\t\t\t\n\t\t\t<details class=\"wp-block-details is-layout-flow wp-block-details-is-layout-flow\"><summary>Une greffe de rein gu\u00e9rit-elle la maladie\u202f?<\/summary>\n\t\t\t<p class=\"wp-block-paragraph\">Non. Elle remplace l\u2019organe d\u00e9faillant, pas la prot\u00e9ine qui l\u2019a d\u00e9truit, et la maladie peut r\u00e9appara\u00eetre dans le rein greff\u00e9. Lorsque la prot\u00e9ine mut\u00e9e est fabriqu\u00e9e par le foie, une greffe de foie agit en revanche sur la cause\u00a0: une raison de plus pour laquelle le diagnostic exact vaut la peine d\u2019\u00eatre attendu.<\/p>\n\t\t\t<\/details>\n\t\t\t\n\t\t<\/div>\n\t\t\n\t\t\n\t\t<div class=\"wp-block-group aa-tp-disclaimer is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t<p class=\"wp-block-paragraph\">Cette page est une information g\u00e9n\u00e9rale destin\u00e9e aux patients, aux familles et aux professionnels de sant\u00e9. Elle ne remplace pas un avis m\u00e9dical. Les parcours de test g\u00e9n\u00e9tique, les crit\u00e8res d\u2019acc\u00e8s \u00e0 la greffe et l\u2019acc\u00e8s aux traitements sp\u00e9cialis\u00e9s varient d\u2019un pays \u00e0 l\u2019autre. Parlez toujours de votre situation avec votre \u00e9quipe sp\u00e9cialis\u00e9e.<\/p>\n\t\t<\/div>\n\t\t\n\t<\/div>\n\t\n<\/section>\n\n<section class=\"wp-block-group aa-next aa-next--split is-layout-flow wp-block-group-is-layout-flow\">\n\t\n\t<div class=\"wp-block-group aa-inner is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\n\t\t<div class=\"wp-block-group aa-next__head is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t<p class=\"aa-section-num wp-block-paragraph\">Continuer<\/p>\n\t\t\t<h2 class=\"wp-block-heading\">Autres types<\/h2>\n\t\t<\/div>\n\t\t\n\t\t\n\t\t<div class=\"wp-block-group aa-next__grid is-layout-flow wp-block-group-is-layout-flow\">\n\t\t\t<div class=\"wp-block-group aa-next-card is-layout-flow wp-block-group-is-layout-flow\"><h3 class=\"wp-block-heading\"><a href=\"https:\/\/www.amyloidosisalliance.org\/fr\/types-damylose\/amylose-localisee\/\">Amylose localis\u00e9e<\/a><\/h3><p class=\"wp-block-paragraph\">Des d\u00e9p\u00f4ts limit\u00e9s \u00e0 un seul site, avec un pronostic g\u00e9n\u00e9ralement bien meilleur.<\/p><\/div>\n\t\t\t<div class=\"wp-block-group aa-next-card is-layout-flow wp-block-group-is-layout-flow\"><h3 class=\"wp-block-heading\"><a href=\"https:\/\/www.amyloidosisalliance.org\/fr\/types-damylose\/amylose-attrv\/\">ATTRv<\/a><\/h3><p class=\"wp-block-paragraph\">L\u2019autre amylose h\u00e9r\u00e9ditaire, de loin la plus fr\u00e9quente.<\/p><\/div>\n\t\t\t<div class=\"wp-block-group aa-next-card is-layout-flow wp-block-group-is-layout-flow\"><h3 class=\"wp-block-heading\"><a href=\"https:\/\/www.amyloidosisalliance.org\/fr\/types-damylose\/amylose-aa\/\">Amylose AA<\/a><\/h3><p class=\"wp-block-paragraph\">Non h\u00e9r\u00e9ditaire, mais l\u2019autre amylose dans laquelle le rein est le plus touch\u00e9.<\/p><\/div>\n\t\t<\/div>\n\t\t\n\t<\/div>\n\t\n<\/section>\n","protected":false},"excerpt":{"rendered":"<p>Accueil\u203aAmylose\u203aTypes d\u2019amylose\u203aAutres types\u203aAmyloses rares Autres types Amyloses h\u00e9r\u00e9ditaires rares Au-del\u00e0 de la transthyr\u00e9tine, une poign\u00e9e d\u2019autres prot\u00e9ines h\u00e9r\u00e9ditaires peuvent se replier anormalement et former de la substance amylo\u00efde. Ces formes sont extr\u00eamement rares, n\u2019ont aucune signature clinique propre, et les reins en paient le prix. Identifier pr\u00e9cis\u00e9ment la prot\u00e9ine n\u2019est pas un d\u00e9tail th\u00e9orique\u00a0: c\u2019est [&hellip;]<\/p>\n","protected":false},"author":0,"featured_media":0,"parent":1427,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-1413","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Amyloses h\u00e9r\u00e9ditaires rares\u00a0: les autres formes h\u00e9r\u00e9ditaires<\/title>\n<meta name=\"description\" content=\"Au-del\u00e0 de la transthyr\u00e9tine, quelques autres prot\u00e9ines h\u00e9r\u00e9ditaires peuvent former de la substance amylo\u00efde. Ces formes sont extr\u00eamement rares et les reins en paient le prix. Comprendre lesquelles.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.amyloidosisalliance.org\/fr\/types-damylose\/amyloses-hereditaires-rares\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Amyloses h\u00e9r\u00e9ditaires rares\u00a0: les autres formes h\u00e9r\u00e9ditaires\" \/>\n<meta property=\"og:description\" content=\"Au-del\u00e0 de la transthyr\u00e9tine, quelques autres prot\u00e9ines h\u00e9r\u00e9ditaires peuvent former de la substance amylo\u00efde. Ces formes sont extr\u00eamement rares et les reins en paient le prix. 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