{"id":5297,"date":"2024-10-10T16:05:21","date_gmt":"2024-10-10T14:05:21","guid":{"rendered":"https:\/\/www.ehc.eu\/bleeding-disorder\/deficit-combine-en-facteur-v-et-en-facteur-viii\/"},"modified":"2025-12-23T09:58:16","modified_gmt":"2025-12-23T08:58:16","slug":"deficit-combine-en-facteur-v-et-en-facteur-viii","status":"publish","type":"bleeding-disorder","link":"https:\/\/www.ehc.eu\/fr\/bleeding-disorder\/deficit-combine-en-facteur-v-et-en-facteur-viii\/","title":{"rendered":"D\u00e9ficit combin\u00e9 en facteur V et en facteur VIII"},"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 combin\u00e9 en facteur V et en facteur VIII<\/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>Trouble h\u00e9r\u00e9ditaire rare de la coagulation d\u00fb \u00e0 la r\u00e9duction de l&rsquo;activit\u00e9 et des niveaux d&rsquo;antig\u00e8nes du facteur V (FV) et du facteur VIII (FVIII) et caract\u00e9ris\u00e9 par des sympt\u00f4mes h\u00e9morragiques l\u00e9gers \u00e0 mod\u00e9r\u00e9s.<\/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 est estim\u00e9e entre 1\/100 000 et 1\/1 000 000. L&rsquo;affection est plus fr\u00e9quente dans la r\u00e9gion m\u00e9diterran\u00e9enne et dans les r\u00e9gions o\u00f9 les mariages consanguins sont fr\u00e9quents. <\/p>\n<p><strong>Description clinique<br \/>\n<\/strong>Le d\u00e9ficit combin\u00e9 en FV et FVIII peut se manifester \u00e0 tout \u00e2ge. Les sympt\u00f4mes les plus courants sont l&rsquo;\u00e9pistaxis, les ecchymoses faciles, les h\u00e9morragies post-chirurgicales ou post-partum et la m\u00e9norragie. Une h\u00e9marthrose et des h\u00e9matomes musculaires peuvent survenir. Les sympt\u00f4mes sont g\u00e9n\u00e9ralement l\u00e9gers.   <\/p>\n<p><strong>\u00c9tiologie<br \/>\n<\/strong>Le d\u00e9ficit combin\u00e9 en facteur V et en facteur VIII est d\u00fb \u00e0 des mutations du g\u00e8ne <i>LMAN1<\/i> (chromosome 18 ; 18q21) ou du g\u00e8ne <i>MCFD2<\/i> (chromosome 2 ; 2p21). <i>LMAN1<\/i> code pour ERGIC-53, une lectine transmembranaire, tandis que <i>MCFD2<\/i> est une prot\u00e9ine contenant une main EF. Le complexe prot\u00e9ique ERGIC-53\/MCFD2 fonctionne comme un r\u00e9cepteur de charge qui facilite le transport des facteurs de coagulation V et VIII du r\u00e9ticulum endoplasmique vers l&rsquo;appareil de Golgi. Les mutations de <i>LMAN1<\/i> repr\u00e9sentent environ 70 % des cas et ne comprennent que des mutations nulles. Les mutations de <i>MCFD2<\/i> repr\u00e9sentent environ 30 % des cas et comprennent \u00e0 la fois des mutations nulles et des mutations faux-sens.   <\/p>\n<p><strong>M\u00e9thodes de diagnostic<br \/>\n<\/strong>Le diagnostic repose sur la mesure des taux de facteur V et de facteur VIII et sur la d\u00e9tection de temps de thromboplastine partielle activ\u00e9e et de temps de prothrombine prolong\u00e9s. Les taux de facteur V et de facteur VIII varient de 1 % \u00e0 46 %, mais se situent g\u00e9n\u00e9ralement entre 5 % et 30 %. <\/p>\n<p><strong>Diagnostic diff\u00e9rentiel<br \/>\n<\/strong>Le diagnostic diff\u00e9rentiel comprend la co-h\u00e9r\u00e9dit\u00e9 du d\u00e9ficit en FV (chromosome 1) et du d\u00e9ficit en FVIII (chromosome X).<\/p>\n<p><strong>Conseil g\u00e9n\u00e9tique<br \/>\n<\/strong>La transmission est autosomique r\u00e9cessive.<\/p>\n<p><em>L&rsquo;information est tir\u00e9e du site web Orpha.net<\/em><\/p>\n<p>&nbsp;<\/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>D\u00e9ficit combin\u00e9 en FV et FVIII<\/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\">La prise en charge vise \u00e0 contr\u00f4ler l&rsquo;h\u00e9morragie et comprend des traitements \u00e0 base de plasma frais congel\u00e9, de concentr\u00e9s de FVIII et l&rsquo;administration de desmopressine.<\/p>\n<p><strong>Pronostic<\/strong><\/p>\n<p>Le pronostic est favorable pour les formes mod\u00e9r\u00e9es de la maladie. La prise en charge des patients atteints de formes plus s\u00e9v\u00e8res doit \u00eatre effectu\u00e9e dans un centre sp\u00e9cialis\u00e9. <\/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-5297","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\/5297","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=5297"}],"wp:term":[{"taxonomy":"bleeding-disorder_cat","embeddable":true,"href":"https:\/\/www.ehc.eu\/fr\/wp-json\/wp\/v2\/bleeding-disorder_cat?post=5297"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}