{"id":5294,"date":"2024-10-10T16:05:31","date_gmt":"2024-10-10T14:05:31","guid":{"rendered":"https:\/\/www.ehc.eu\/bleeding-disorder\/nedostatak-faktora-vii\/"},"modified":"2025-12-23T09:58:16","modified_gmt":"2025-12-23T08:58:16","slug":"nedostatak-faktora-vii","status":"publish","type":"bleeding-disorder","link":"https:\/\/www.ehc.eu\/hr\/bleeding-disorder\/nedostatak-faktora-vii\/","title":{"rendered":"Nedostatak faktora VII"},"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%]\">Nedostatak faktora VII<\/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>Rijedak, genetski, kongenitalni poreme\u0107aj nedostatka faktora koagulacije ovisan o vitaminu K, karakteriziran smanjenim razinama ili odsutno\u0161\u0107u faktora koagulacije VII (FVII), \u0161to rezultira dijatezom krvarenja razli\u010ditog stupnja.<\/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>Epidemiologija<br \/>\n<\/strong> \u010cini se da je europska prevalencija to\u010dkaste dijagnoze blizu 1\/300 000, ali mo\u017ee biti znatno ve\u0107a u zemljama gdje su krvni brakovi \u010desti.<\/p>\n<p><strong>Klini\u010dki opis<br \/>\n<\/strong> Klini\u010dka ekspresija ovog poreme\u0107aja je vrlo varijabilna i nije prona\u0111ena konzistentna veza izme\u0111u te\u017eine hemoragijskog sindroma i rezidualnih razina aktivnosti FVII. Klini\u010dka slika mo\u017ee biti vrlo te\u0161ka, s ranom pojavom intracerebralnih krvarenja ili ponovljenih hemartroza, ili, naprotiv, mo\u017ee biti umjerena s ko\u017enim\/mukoznim krvarenjima (epistaksa, menoragija) ili krvarenjima izazvanim operacijom ili traumom. Kona\u010dno, brojni ispitanici su potpuno asimptomatski unato\u010d vrlo niskoj razini FVII.  <\/p>\n<p><strong>Etiologija<br \/>\n<\/strong> Nedostatak FVII uzrokovan je mutacijama u genu <i>F7<\/i> (13q34) koji kodira za FVII. Tipi\u010dno, samo homozigoti ili slo\u017eeni heterozigoti razvijaju hemoragi\u010dni sindrom; heterozigoti su obi\u010dno asimptomatski. Poznato je da je vi\u0161e od 250 mutacija i \u0161est uobi\u010dajenih varijanti povezano s pove\u0107anim ili smanjenim razinama FVII u plazmi. Velike genomske preinake zabilje\u017eene su u literaturi i u razli\u010ditim bazama podataka specifi\u010dnim za lokus, ali su rijetke. Tako\u0111er su dokazane genetske preinake, \u0161to rezultira potpunim ili djelomi\u010dnim brisanjem gena <i>F7<\/i> . Blizina i implikacija s genom <i>F10<\/i> (13q34) tako\u0111er bi mogli biti uzrok kombiniranih deficita.     <\/p>\n<p><strong>Dijagnosti\u010dke metode<br \/>\n<\/strong> Dijagnoza se posumnja izoliranim protrombinskim vremenom, a dodatno se potvr\u0111uje kronometrijskim testovima koji otkrivaju razinu aktivnosti FVII ispod one u zdru\u017eenoj normalnoj plazmi (s vrijednostima koje su obi\u010dno izme\u0111u 70 i 140%). Nedostatak je obi\u010dno simptomatski samo za vrijednosti ispod 30%. <\/p>\n<p><strong>Diferencijalna dijagnoza<br \/>\n<\/strong> Diferencijalne dijagnoze uklju\u010duju hepatocelularnu insuficijenciju, hipoavitaminozu K, ste\u010deni nedostatak FVII povezan s te\u0161kom sepsom i, rje\u0111e, prisutnost autoantitijela protiv FVII.<\/p>\n<p><strong>Prenatalna dijagnoza<br \/>\n<\/strong> Zbog izra\u017eene heterogenosti fenotipova (uklju\u010duju\u0107i asimptomatske osobe), pristup prenatalnoj dijagnostici ovisi o klini\u010dkim posljedicama bolesti u obitelji koja se razmatra. Samo postojanje prvog djeteta s vrlo te\u0161kim oblikom mo\u017ee navesti medicinski tim da predlo\u017ei prenatalnu dijagnozu u vrijeme sljede\u0107e trudno\u0107e. <\/p>\n<p><strong>Genetsko savjetovanje<br \/>\n<\/strong> Bolest se prenosi autosomno recesivnim putem. Zbog \u0161iroke fenotipske heterogenosti poreme\u0107aja, s mnogim asimptomatskim pacijentima, genetsko savjetovanje se obi\u010dno razlikuje ovisno o klini\u010dkim zna\u010dajkama specifi\u010dnim za obitelj. <\/p>\n<p><em>Informacije su preuzete s web stranice 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>Kongenitalni nedostatak faktora VII<\/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>Prevalencija<\/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>Lije\u010denje i upravljanje<\/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\">Trenuta\u010dno, glavni tretman sastoji se od rekombinantnog aktiviranog FVII (eptakog alfa). Koncentrirani protrombinski ili plazmatski faktor VII mo\u017ee se koristiti kao drugi izbor, a smrznuta plazma kao krajnje sredstvo. Me\u0111utim, indikacije je i dalje te\u0161ko utvrditi prije operacije kod ispitanika s malo ili bez simptoma. Godine 2008. rekombinantni faktor koagulacije VIIa (rFVIIa) dobio je oznaku lijeka za rijetke bolesti u SAD-u.   <\/p>\n<p><strong>Prognoza<br \/>\n<\/strong> Kongenitalni nedostatak FVII obi\u010dno ima dobru prognozu. Ipak, bolest ostaje vrlo onesposobljavaju\u0107a ili \u010dak fatalna kod pacijenata koji ne mogu imati koristi od dugotrajne nadomjesne profilakse i koji pokazuju najte\u017ee oblike (intracerebralno krvarenje i ponovljene hemartroze). <\/p>\n<p><em>Informacije su preuzete s web stranice 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-5294","bleeding-disorder","type-bleeding-disorder","status-publish","hentry"],"acf":[],"jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/www.ehc.eu\/hr\/wp-json\/wp\/v2\/bleeding-disorder\/5294","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.ehc.eu\/hr\/wp-json\/wp\/v2\/bleeding-disorder"}],"about":[{"href":"https:\/\/www.ehc.eu\/hr\/wp-json\/wp\/v2\/types\/bleeding-disorder"}],"wp:attachment":[{"href":"https:\/\/www.ehc.eu\/hr\/wp-json\/wp\/v2\/media?parent=5294"}],"wp:term":[{"taxonomy":"bleeding-disorder_cat","embeddable":true,"href":"https:\/\/www.ehc.eu\/hr\/wp-json\/wp\/v2\/bleeding-disorder_cat?post=5294"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}