{"id":5305,"date":"2024-10-10T14:51:53","date_gmt":"2024-10-10T12:51:53","guid":{"rendered":"https:\/\/www.ehc.eu\/bleeding-disorder\/deficit-en-facteur-i-fibrinogene\/"},"modified":"2025-12-23T09:58:41","modified_gmt":"2025-12-23T08:58:41","slug":"deficit-en-facteur-i-fibrinogene","status":"publish","type":"bleeding-disorder","link":"https:\/\/www.ehc.eu\/fr\/bleeding-disorder\/deficit-en-facteur-i-fibrinogene\/","title":{"rendered":"D\u00e9ficit en facteur I (fibrinog\u00e8ne)"},"content":{"rendered":"<!-- hero -->\t<section   class=\"subpage-hero bg-red text-white\">\n\t\t<div class=\"container\">\n\t\t\t<div class=\"relative z-10\">\n\t\t\t\t<div class=\"pt-16 lg:pt-24 pb-24 lg:pb-32\">\n\t\t\t\t\t<div class=\"row justify-between gap-10 lg:gap-0 mt-10 text-center lg:text-left\">\n\t\t\t\t\t\t<div class=\"w-full lg:w-6\/12 lg:self-center\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"title h2\" data-scroll data-fade-up>\n\t\t\t\t\t\t\t\t\t<p class=\"text-[115%]\">D\u00e9ficit en facteur I (fibrinog\u00e8ne)<\/p>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"content mt-14 lg:mt-20\" data-scroll data-fade-up data-delay-02>\n\t\t\t\t\t\t\t\t\t<p>Troubles h\u00e9r\u00e9ditaires rares de la coagulation caract\u00e9ris\u00e9s par des sympt\u00f4mes h\u00e9morragiques allant de l\u00e9gers \u00e0 graves, r\u00e9sultant d&rsquo;une r\u00e9duction de la quantit\u00e9 et\/ou de la qualit\u00e9 du fibrinog\u00e8ne circulant. L&rsquo;afibrinog\u00e9n\u00e9mie (absence totale de fibrinog\u00e8ne) et l&rsquo;hypofibrinog\u00e9n\u00e9mie (concentration r\u00e9duite de fibrinog\u00e8ne dans le plasma) correspondent \u00e0 des anomalies quantitatives du fibrinog\u00e8ne, tandis que la dysfibrinog\u00e9n\u00e9mie correspond \u00e0 une anomalie fonctionnelle du fibrinog\u00e8ne. L&rsquo;hypo- et la dysfibrinog\u00e9n\u00e9mie peuvent \u00eatre fr\u00e9quemment combin\u00e9es (hypodysfibrinog\u00e9n\u00e9mie).  <\/p>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t\t\t\t\t<figure class=\"absolute size-[82.8rem] bottom-[-30%] right-[-5%] image-contain opacity-20 skip-lazy\" data-parallax>\n\t                <img decoding=\"async\" loading=\"eager\" src=\"https:\/\/etngbd86n6b.exactdn.com\/wp-content\/themes\/cbd\/img\/content-logo-colorfull.svg\" alt=\"content-logo-colorfull\">\n\t            <\/figure>\n\t\t\t\t\t\t<\/section>\n<!-- overview -->\t<section   class=\"s-overlay-img s-padding\">\n\t\t<div class=\"container\">\n\t\t\t<div class=\"row w-full lg:flex-row-reverse justify-between text-center lg:text-left relative z-10\">\n\t\t\t\t\t\t\t\t\t<div class=\"w-full lg:w-6\/12 min-h-full\">\n\t\t\t\t\t\t<div class=\"w-full h-[35rem] lg:h-[25vmax] min-h-full relative overflow-hidden radius-20\">\n\t\t\t\t\t\t\t<figure class=\"absolute top-0 left-0 size-full radius-20\" data-img-animation>\n\t\t\t\t\t\t\t\t<img width=\"410\" height=\"491\" src=\"https:\/\/etngbd86n6b.exactdn.com\/wp-content\/uploads\/2024\/10\/image-7.jpg?strip=all&amp;sharp=1\" class=\"attachment-large size-large\" alt=\"\" decoding=\"async\" loading=\"lazy\" srcset=\"https:\/\/etngbd86n6b.exactdn.com\/wp-content\/uploads\/2024\/10\/image-7.jpg?strip=all&amp;sharp=1 410w, https:\/\/etngbd86n6b.exactdn.com\/wp-content\/uploads\/2024\/10\/image-7-251x300.jpg?strip=all&amp;sharp=1 251w, https:\/\/etngbd86n6b.exactdn.com\/wp-content\/uploads\/2024\/10\/image-7.jpg?strip=all&amp;sharp=1&amp;w=82 82w, https:\/\/etngbd86n6b.exactdn.com\/wp-content\/uploads\/2024\/10\/image-7.jpg?strip=all&amp;sharp=1&amp;w=164 164w, https:\/\/etngbd86n6b.exactdn.com\/wp-content\/uploads\/2024\/10\/image-7.jpg?strip=all&amp;sharp=1&amp;w=328 328w\" sizes=\"auto, (max-width: 410px) 100vw, 410px\" \/>\t\t\t\t\t\t\t<\/figure>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<div class=\"w-full lg:w-6\/12 lg:py-10\">\n\t\t\t\t\t<div class=\"lg:w-[120%] bg-white py-12 px-0 lg:py-24 lg:px-24 relative radius-20 z-10\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"content mt-8\" data-scroll data-fade-up>\n\t\t\t\t\t\t\t\t<p class=\"fs-5 orpha-blue\"><strong>\u00c9pid\u00e9miologie<br \/>\n<\/strong>La pr\u00e9valence de l&rsquo;afibrinog\u00e9n\u00e9mie est estim\u00e9e \u00e0 1\/1 000 000. L&rsquo;hypo- et la dysfibrinog\u00e9n\u00e9mie sont plus fr\u00e9quentes. Les deux sexes sont \u00e9galement touch\u00e9s. Le d\u00e9ficit en fibrinog\u00e8ne peut \u00eatre d\u00e9couvert \u00e0 tout \u00e2ge, mais l&rsquo;afibrinog\u00e9n\u00e9mie se manifeste g\u00e9n\u00e9ralement t\u00f4t dans l&rsquo;enfance, souvent pendant la p\u00e9riode n\u00e9onatale.   <\/p>\n<p><strong>Description clinique<br \/>\n<\/strong>Les manifestations courantes de l&rsquo;afibrinog\u00e9n\u00e9mie comprennent les saignements du cordon ombilical, l&rsquo;\u00e9pistaxis, l&rsquo;h\u00e9marthrose, les saignements gastro-intestinaux, la m\u00e9norragie, les saignements traumatiques et chirurgicaux et, rarement, l&rsquo;h\u00e9morragie intracr\u00e2nienne. Des avortements spontan\u00e9s r\u00e9currents peuvent survenir chez les femmes atteintes d&rsquo;afibrinog\u00e9n\u00e9mie. L&rsquo;hypofibrinog\u00e9n\u00e9mie se caract\u00e9rise par des \u00e9pisodes h\u00e9morragiques moins nombreux et moins graves \u00e0 la suite d&rsquo;un traumatisme ou d&rsquo;une intervention chirurgicale. La plupart des patients atteints de dysfibrinog\u00e9n\u00e9mie sont asymptomatiques (60 %). Les autres peuvent pr\u00e9senter des sympt\u00f4mes h\u00e9morragiques (28%) ou m\u00eame une thrombose (20%).    <\/p>\n<p><strong>\u00c9tiologie<br \/>\n<\/strong>Les d\u00e9ficits cong\u00e9nitaux en fibrinog\u00e8ne sont dus \u00e0 des mutations des g\u00e8nes <i>FGA<\/i>, <i>FGB<\/i> ou <i>FGG<\/i>. L&rsquo;afibrinog\u00e9n\u00e9mie est autosomique r\u00e9cessive ; l&rsquo;hypofibrinog\u00e9n\u00e9mie et la dysfibrinog\u00e9n\u00e9mie sont principalement autosomiques dominantes. <\/p>\n<p><strong>M\u00e9thodes de diagnostic<br \/>\n<\/strong>Le diagnostic repose sur l&rsquo;allongement du temps de c\u00e9phaline activ\u00e9e (TCA), du temps de prothrombine (TP), des temps de thrombine et de reptilase et sur les taux de fibrinog\u00e8ne mesur\u00e9s par des tests fonctionnels (Clauss) et immunologiques.<\/p>\n<p><strong>Diagnostic diff\u00e9rentiel<br \/>\n<\/strong>Les diagnostics diff\u00e9rentiels incluent les autres d\u00e9ficits cong\u00e9nitaux en facteurs de coagulation (facteurs II, V, VII, X, XI, VIII, IX et XIII ; voir ces termes) et les d\u00e9ficits acquis en fibrinog\u00e8ne (coagulopathie de consommation, insuffisance h\u00e9patique). En cas de thrombose, le diagnostic diff\u00e9rentiel inclut \u00e9galement la thrombophilie cong\u00e9nitale ou acquise (d\u00e9ficit en antithrombine, d\u00e9ficit en prot\u00e9ine C ou S, mutation du facteur V de Leiden, lupus anticoagulant (voir ces termes) et mutation du FII de Leiden). <\/p>\n<p><strong>Diagnostic ant\u00e9natal<br \/>\n<\/strong>Le diagnostic ant\u00e9natal de l&rsquo;afibrinog\u00e9n\u00e9mie est possible si les mutations causales ont d\u00e9j\u00e0 \u00e9t\u00e9 identifi\u00e9es dans la famille.<\/p>\n<p><em>L&rsquo;information est tir\u00e9e du site web Orpha.net<\/em><\/p>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/section>\n<!-- features --><section   class=\"s-padding-bottom\">\n\t<div class=\"container\">\n\t\t\t\t\t<div class=\"grid sm:grid-cols-2 lg:grid-cols-4 gap-10 text-center lg:text-left\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div data-scroll data-fade-left data-delay-0>\n\t\t\t\t\t\t<div class=\"flex flex-col gap-7 min-h-full px-10 lg:px-16 py-14 lg:py-24 text-white bg-blue radius-20 z-10\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"title h4\">\n\t\t\t\t\t\t\t\t\t<p>Afibrinog\u00e9n\u00e9mie<\/p>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"w-full\">\n\t\t\t\t\t\t\t\t\t\t\t<p>Pr\u00e9valence<\/p>\n\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"h5\">\n\t\t\t\t\t\t\t\t\t\t\t<p>1\/1,000,000<\/p>\n\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div data-scroll data-fade-left data-delay-02>\n\t\t\t\t\t\t<div class=\"flex flex-col gap-7 min-h-full px-10 lg:px-16 py-14 lg:py-24 text-white bg-blue radius-20 z-10\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"title h4\">\n\t\t\t\t\t\t\t\t\t<p>Hypofibrinog\u00e9n\u00e9mie<\/p>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"w-full\">\n\t\t\t\t\t\t\t\t\t\t\t<p>Pr\u00e9valence<\/p>\n\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"h5\">\n\t\t\t\t\t\t\t\t\t\t\t<p>1-9\/1,000,000<\/p>\n\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div data-scroll data-fade-left data-delay-04>\n\t\t\t\t\t\t<div class=\"flex flex-col gap-7 min-h-full px-10 lg:px-16 py-14 lg:py-24 text-white bg-blue radius-20 z-10\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"title h4\">\n\t\t\t\t\t\t\t\t\t<p>Dysfibrinog\u00e9n\u00e9mie<\/p>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"w-full\">\n\t\t\t\t\t\t\t\t\t\t\t<p>Pr\u00e9valence<\/p>\n\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"h5\">\n\t\t\t\t\t\t\t\t\t\t\t<p>1-9\/1,000,000<\/p>\n\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t<\/div>\n<\/section><!-- overview -->\t<section   class=\"s-overlay-img s-padding-medium\">\n\t\t<div class=\"container\">\n\t\t\t<div class=\"row w-full lg:flex-row justify-between text-center lg:text-left relative z-10\">\n\t\t\t\t\t\t\t\t\t<div class=\"w-full lg:w-4\/12 min-h-full\">\n\t\t\t\t\t\t<div class=\"w-full lg:w-[115%] h-[35rem] lg:h-[25vmax] min-h-full relative overflow-hidden radius-20\">\n\t\t\t\t\t\t\t<figure class=\"absolute top-0 left-0 size-full radius-20\" data-img-animation>\n\t\t\t\t\t\t\t\t<img width=\"410\" height=\"491\" src=\"https:\/\/etngbd86n6b.exactdn.com\/wp-content\/uploads\/2024\/10\/image-7.jpg?strip=all&amp;sharp=1\" class=\"attachment-large size-large\" alt=\"\" decoding=\"async\" loading=\"lazy\" srcset=\"https:\/\/etngbd86n6b.exactdn.com\/wp-content\/uploads\/2024\/10\/image-7.jpg?strip=all&amp;sharp=1 410w, https:\/\/etngbd86n6b.exactdn.com\/wp-content\/uploads\/2024\/10\/image-7-251x300.jpg?strip=all&amp;sharp=1 251w, https:\/\/etngbd86n6b.exactdn.com\/wp-content\/uploads\/2024\/10\/image-7.jpg?strip=all&amp;sharp=1&amp;w=82 82w, https:\/\/etngbd86n6b.exactdn.com\/wp-content\/uploads\/2024\/10\/image-7.jpg?strip=all&amp;sharp=1&amp;w=164 164w, https:\/\/etngbd86n6b.exactdn.com\/wp-content\/uploads\/2024\/10\/image-7.jpg?strip=all&amp;sharp=1&amp;w=328 328w\" sizes=\"auto, (max-width: 410px) 100vw, 410px\" \/>\t\t\t\t\t\t\t<\/figure>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<div class=\"w-full lg:w-8\/12 lg:py-10\">\n\t\t\t\t\t<div class=\"bg-white py-12 px-0 lg:py-24 lg:px-32 relative radius-20 z-10\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"title h4\" data-scroll data-fade-up>\n\t\t\t\t\t\t\t\t<p>Prise en charge et traitement<\/p>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"content mt-8\" data-scroll data-fade-up>\n\t\t\t\t\t\t\t\t<p class=\"mx-4\">Les concentr\u00e9s de fibrinog\u00e8ne sont g\u00e9n\u00e9ralement utilis\u00e9s pour le traitement des h\u00e9morragies. Le plasma frais congel\u00e9 est utilis\u00e9 lorsque les concentr\u00e9s de fibrinog\u00e8ne ne sont pas disponibles. Les avortements spontan\u00e9s r\u00e9currents peuvent \u00eatre \u00e9vit\u00e9s par une prophylaxie de routine bas\u00e9e sur l&rsquo;administration de concentr\u00e9s de fibrinog\u00e8ne au d\u00e9but de la grossesse.  <\/p>\n<p><strong>Pronostic<br \/>\n<\/strong>Bien qu&rsquo;une h\u00e9morragie intracr\u00e2nienne potentiellement mortelle puisse survenir, le pronostic de l&rsquo;afibrinog\u00e9n\u00e9mie est bon avec un diagnostic pr\u00e9coce et un traitement ad\u00e9quat. Le pronostic de l&rsquo;hypo- ou de la dysfibrinog\u00e9n\u00e9mie est g\u00e9n\u00e9ralement bon. <\/p>\n<p><em>L&rsquo;information est tir\u00e9e du site web Orpha.net<\/em><\/p>\n\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/section>\n<!-- newsletter -->","protected":false},"template":"","meta":{"_acf_changed":false},"bleeding-disorder_cat":[],"class_list":["post-5305","bleeding-disorder","type-bleeding-disorder","status-publish","hentry"],"acf":[],"jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/www.ehc.eu\/fr\/wp-json\/wp\/v2\/bleeding-disorder\/5305","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.ehc.eu\/fr\/wp-json\/wp\/v2\/bleeding-disorder"}],"about":[{"href":"https:\/\/www.ehc.eu\/fr\/wp-json\/wp\/v2\/types\/bleeding-disorder"}],"wp:attachment":[{"href":"https:\/\/www.ehc.eu\/fr\/wp-json\/wp\/v2\/media?parent=5305"}],"wp:term":[{"taxonomy":"bleeding-disorder_cat","embeddable":true,"href":"https:\/\/www.ehc.eu\/fr\/wp-json\/wp\/v2\/bleeding-disorder_cat?post=5305"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}