{"id":189741,"date":"2023-02-27T07:58:56","date_gmt":"2023-02-27T06:58:56","guid":{"rendered":"https:\/\/sdk.mk\/?p=189741"},"modified":"2023-02-27T07:58:56","modified_gmt":"2023-02-27T06:58:56","slug":"ju-njoftojme-me-semundjet-e-rralla-telangiektazia-hemorragjike-e-trasheguar","status":"publish","type":"post","link":"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-telangiektazia-hemorragjike-e-trasheguar\/","title":{"rendered":"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: TELANGIEKTAZIA HEMORRAGJIKE E TRASH\u00cbGUAR"},"content":{"rendered":"<div class=\"f52428582a4b906b2d2e2a7d733c7d27\" data-index=\"7\" style=\"float: none; margin:10px 0 10px 0; text-align:center;\">\n<!-- MSP Ads Asynchronous JS Tag - Generated with Revive Adserver v5.4.1 -->\r\n<ins data-revive-zoneid=\"167\" data-revive-id=\"060fdb01f6430ec164d3519234aa4967\"><\/ins>\r\n<script async src=\"\/\/panel.ads.com.mk\/www\/delivery\/asyncjs.php\"><\/script>\n<\/div>\n<p><span style=\"font-size: medium;\"><i><b>Telangiektazia hemorragjike e trash\u00ebguar<\/b><\/i><\/span><\/p>\n<p><span style=\"font-size: medium;\">ICD I78.0<\/span><\/p>\n<p><span style=\"font-size: medium;\">Prevalenca : 1-5\/10.000<\/span><\/p>\n<p><span style=\"font-size: medium;\">Ndarjet e telangjiektazis\u00eb hemorragjike trash\u00ebgimore:<\/span><\/p>\n<p>\u2022 <span style=\"font-size: medium;\">telangiektazi hemorragjike trash\u00ebgimore Tipi 1;<\/span><\/p>\n<p>\u2022 <span style=\"font-size: medium;\">telangiektazi hemorragjike trash\u00ebgimore Tipi 2;<\/span><\/p>\n<p>\u2022 <span style=\"font-size: medium;\">Sindroma e mbivendosjes s\u00eb polipoz\u00ebs juvenile \u2013 telangjiektazia hemorragjike trash\u00ebgimore (JPHT\/JPHHT).<\/span><\/p>\n<p><span style=\"font-size: medium;\">P\u00ebrkufizimi i s\u00ebmundjes<\/span><\/p>\n<p><span style=\"font-size: medium;\">\u00cbsht\u00eb nj\u00eb \u00e7\u2019rregullim i trash\u00ebguar i angiogjenez\u00ebs i karakterizuar me telangjiektaz\u00eb mukokutane dhe keqformime arteriovenoze viscerale.<\/span><\/p>\n<p><span style=\"font-size: medium;\"><b>P\u00ebrshkrimi klinik:<\/b><\/span><\/p>\n<p><span style=\"font-size: medium;\">Shenjat klinike m\u00eb t\u00eb zakonshme t\u00eb telangjiektazis\u00eb hemorragjike trash\u00ebgimore (HHT) p\u00ebrfshijn\u00eb epistaksi t\u00eb p\u00ebrs\u00ebritura (gjakderdhje nga hund\u00ebt), shpesh q\u00eb nga f\u00ebmij\u00ebria, dhe telangjiektaza t\u00eb l\u00ebkur\u00ebs ose mukoz\u00ebs q\u00eb p\u00ebrgjith\u00ebsisht shfaqen m\u00eb von\u00eb dhe rriten me mosh\u00ebn, ku anemia mund t\u00eb b\u00ebhet nj\u00eb pjes\u00eb e r\u00ebnd\u00ebsishme e s\u00ebmundjes. Keqformimet arteriovenoze viscerale (AVM) jan\u00eb zakonisht asimptomatike, por mund t\u00eb \u00e7ojn\u00eb n\u00eb komplikime q\u00eb shkaktojn\u00eb manifestime shum\u00eb t\u00eb ndryshueshme. Mosha e shfaqjes s\u00eb komplikimeve t\u00eb lidhura me AVM \u00ebsht\u00eb e ndryshueshme, duke filluar nga f\u00ebmij\u00ebria deri n\u00eb mosh\u00ebn geriatrike, me pak raste t\u00eb raportuara gjat\u00eb periudh\u00ebs neonatale. Keqformimet pulmonare mund t\u00eb shfaqen me abscese t\u00eb trurit, goditje n\u00eb tru, sulme ishemike kalimtare, shenja t\u00eb hipoksemis\u00eb kronike ose, rrall\u00eb, ruptur\u00eb hemorragjike. AVM-t\u00eb e sistemit nervor qendror mund t\u00eb jen\u00eb hemorragjike ose, rrall\u00eb, shkaktar\u00eb t\u00eb ngjeshjes s\u00eb ngadalt\u00eb. AVM-t\u00eb hepatike, t\u00eb cilat mund t\u00eb q\u00ebndrojn\u00eb latente p\u00ebr nj\u00eb koh\u00eb t\u00eb gjat\u00eb, n\u00eb nj\u00eb pjes\u00eb t\u00eb kufizuar pacient\u00ebsh b\u00ebhen t\u00eb r\u00ebnda duke \u00e7uar n\u00eb d\u00ebshtim t\u00eb zemr\u00ebs, hipertension portal, hipertension pulmonar ose kolengit ishemik. Telangjiektazat hemorragjike t\u00eb tretjes rriten me kalimin e mosh\u00ebs dhe mund t\u00eb p\u00ebrkeq\u00ebsojn\u00eb anemin\u00eb kronike.<\/span><\/p>\n<p><span style=\"font-size: medium;\"><b>Etiologjia:<\/b><\/span><\/p>\n<p><span style=\"font-size: medium;\">Ky \u00e7rregullim gjenetik \u00ebsht\u00eb p\u00ebr shkak t\u00eb varianteve patogjene kryesisht n\u00eb ENG (9q34.11) ose ACVRL1 (12q13.13), t\u00eb cilat kodojn\u00eb proteinat e p\u00ebrfshira n\u00eb zhvillimin vaskular dhe homeostaz\u00ebn kapilar angiogjene. Mutacionet n\u00eb SMAD4 (18q21.2) ndodhin n\u00eb raste t\u00eb rralla (1 \u2013 3 %) dhe rezultojn\u00eb n\u00eb HHT t\u00eb shoq\u00ebruar me polipoz\u00eb juvenile. N\u00eb nj\u00eb pjes\u00eb t\u00eb vog\u00ebl t\u00eb familjeve HHT, varianti i gjenit patogjen ende nuk \u00ebsht\u00eb identifikuar.<\/span><\/p>\n<p><span style=\"font-size: medium;\"><b>Metodat diagnostikuese:<\/b><\/span><\/p>\n<p><span style=\"font-size: medium;\">Diagnoza \u00ebsht\u00eb klinike dhe\/ose molekulare. Diagnoza klinike bazohet n\u00eb t\u00eb paturit e t\u00eb pakt\u00ebn tre nga kat\u00ebr kriteret Cura\u00e7ao: epistaksis\u00eb rekurente, telangjiektazave l\u00ebkurore\/mukozale, p\u00ebrfshirja viscerale dhe nj\u00eb an\u00ebtar i familjes s\u00eb linj\u00ebs s\u00eb par\u00eb me HHT. Testimi gjenetik mund t\u00eb p\u00ebrdoret p\u00ebr ekzaminim, p\u00ebr t\u00eb konfirmuar diagnoz\u00ebn ose p\u00ebr t\u00eb p\u00ebrjashtuar diagnoz\u00ebn n\u00ebse dihet se varianti patogjen \u00ebsht\u00eb i pranish\u00ebm n\u00eb familje.<\/span><\/p>\n<p><span style=\"font-size: medium;\">Diagnoza diferenciale:<\/span><\/p>\n<p><span style=\"font-size: medium;\">Diagnoza diferenciale p\u00ebrfshin skleroz\u00ebn e kufizuar sistemike t\u00eb l\u00ebkur\u00ebs, angiodisplazit\u00eb e tretjes, AVM-t\u00eb sporadike t\u00eb izoluara n\u00eb mushk\u00ebri, m\u00ebl\u00e7i dhe tru, sindroma t\u00eb tjera t\u00eb anomalive vaskulare q\u00eb shkaktojn\u00eb AVM, telangiektazi trash\u00ebgimore beninje dhe shkaqe t\u00eb tjera t\u00eb \u00e7\u2019rregullimeve t\u00eb p\u00ebrs\u00ebritura t\u00eb epistaksis\u00eb ose faktor\u00eb t\u00eb tjer\u00eb lokal\u00eb t\u00eb koagulimit ).<\/span><\/p>\n<p><span style=\"font-size: medium;\">Diagnoza antenatale:<\/span><\/p>\n<p><span style=\"font-size: medium;\">Testimi gjenetik prenatal \u00ebsht\u00eb i mundur n\u00eb familjet ku nj\u00eb variant patogjen \u00ebsht\u00eb identifikuar n\u00eb familje, por nuk \u00ebsht\u00eb i nevojsh\u00ebm p\u00ebr menaxhimin e duhur t\u00eb shtatz\u00ebnis\u00eb dhe lindjes.<\/span><\/p>\n<p><span style=\"font-size: medium;\">K\u00ebshillim gjenetik:<\/span><\/p>\n<p><span style=\"font-size: medium;\">Transmetimi \u00ebsht\u00eb autosomik dominant. Penetrimi varet nga mosha, ku shumica kan\u00eb simptoma para mosh\u00ebs 50 vje\u00e7. Fenotipi \u00ebsht\u00eb shum\u00eb i ndryshuesh\u00ebm, madje edhe midis an\u00ebtar\u00ebve t\u00eb s\u00eb nj\u00ebjt\u00ebs familje.<\/span><\/p>\n<p><span style=\"font-size: medium;\"><b>Mjekimi:<\/b><\/span><\/p>\n<p><span style=\"font-size: medium;\">Menaxhimi i s\u00ebmundjes p\u00ebrfshin parandalimin dhe trajtimin e epistaksis\u00eb dhe anemis\u00eb, shqyrtimin p\u00ebr AVM. Menaxhimi i AVM-ve pulmonare mb\u00ebshtetet n\u00eb zbulimin e hersh\u00ebm, mbylljen aty ku \u00ebsht\u00eb e mundur dhe kujdesin e vazhduesh\u00ebm n\u00eb rastet e AVM-ve pulmonare t\u00eb vazhdueshme. P\u00ebr p\u00ebrfshirje t\u00eb r\u00ebnd\u00eb t\u00eb m\u00ebl\u00e7is\u00eb, rekomandohet nj\u00eb vler\u00ebsim multidisiplinar i pacientit n\u00eb nj\u00eb qend\u00ebr me ekspertiz\u00eb n\u00eb HHT. AVM-t\u00eb cerebrale q\u00eb nuk kan\u00eb gjakderdhje zakonisht nuk trajtohen, nd\u00ebrsa AVM-t\u00eb cerebrale q\u00eb tashm\u00eb kan\u00eb rrjedhur gjak ose jan\u00eb b\u00ebr\u00eb simptomatike zakonisht k\u00ebrkojn\u00eb trajtim. Telangiektazat gastrointestinale ndonj\u00ebher\u00eb mund t\u00eb shkaktojn\u00eb anemi t\u00eb konsiderueshme, ve\u00e7an\u00ebrisht n\u00eb pacient\u00ebt e moshuar dhe kan\u00eb nevoj\u00eb p\u00ebr trajtim specifik. HHT p\u00ebr shkak t\u00eb variantit patogjen SMAD4 k\u00ebrkon shqyrtimin e polipoz\u00ebs dhe monitorimin e aort\u00ebs.<\/span><\/p>\n<p><span style=\"font-size: medium;\">Terapit\u00eb standarde:<\/span><\/p>\n<p><span style=\"font-size: medium;\">Trajtimi i HHT drejtohet n\u00eb simptomat specifike t\u00eb pranishme n\u00eb \u00e7do individ, si dhe mbik\u00ebqyrjen p\u00ebr AVM t\u00eb padiagnostikuar. Fondacioni Cure HHT publikon rekomandime n\u00eb faqen e tij t\u00eb internetit (https:\/\/curehht.org\/) n\u00eb lidhje me shqyrtimin dhe trajtimin p\u00ebr AVM t\u00eb ndryshme.<\/span><\/p>\n<p><span style=\"font-size: medium;\">T\u00eb gjith\u00eb pacient\u00ebt me gjakrrjedhje nga hund\u00ebt duhet t\u00eb p\u00ebrdorin nj\u00eb lloj lubrifikimi t\u00eb hund\u00ebs p\u00ebr ta parandaluar at\u00eb, t\u00eb tilla si vazelin\u00eb, sp\u00ebrkat\u00ebs me krip\u00eb ose produkte t\u00eb tjera. Trauma nazale si fryrje e forte ose goditje duhet t\u00eb anashkalohen. N\u00ebse masat konservatore jan\u00eb t\u00eb pamjaftueshme, at\u00ebher\u00eb duhet t\u00eb merret parasysh acidi tranexamik oral ose ablacioni kirurgjik duke p\u00ebrdorur lazer, kauterim bipolar, koblacion ose skleroterapi. . Acidi tranexamik \u00ebsht\u00eb nj\u00eb agjent antifibrinolitik q\u00eb \u00ebsht\u00eb treguar i dobish\u00ebm n\u00eb dy prova klinike t\u00eb rast\u00ebsishme dhe duket se ndihmon rreth 50% t\u00eb pacient\u00ebve. Ablacioni kirurgjik kryhet m\u00eb s\u00eb miri nga nj\u00eb specialist (rinolog) me p\u00ebrvoj\u00eb n\u00eb HHT dhe zakonisht \u00ebsht\u00eb &gt; 90% efektiv, por p\u00ebrfitimi zakonisht zhduket pas 3 \u2013 12 muajsh. P\u00ebr pacient\u00ebt tek t\u00eb cil\u00ebt d\u00ebshtojn\u00eb masat e tilla, acidit tranexamik dhe ablacioni, duhet t\u00eb merren parasysh agjent\u00ebt sistematik\u00eb antiangiogjen\u00eb (shih m\u00eb posht\u00eb n\u00ebn Terapit\u00eb hetimore). Terapit\u00eb m\u00eb agresive kirurgjikale, duke p\u00ebrfshir\u00eb mbylljen e hund\u00ebs dhe transplantet e l\u00ebkur\u00ebs, jan\u00eb t\u00eb mundshme kur pacienti mbetet anemik i r\u00ebnd\u00eb p\u00ebr shkak t\u00eb humbjes s\u00eb gjakut nga hunda.<\/span><\/p>\n<p><span style=\"font-size: medium;\">AVM-t\u00eb e vogla duhet t\u00eb monitorohen p\u00ebr rritje \u00e7do 5-10 vjet me skanim CT ose ekokardiografi me kontrast, n\u00eb var\u00ebsi t\u00eb pacientit. AVM-t\u00eb e trurit zakonisht trajtohen me heqje kirurgjikale, embolizim ose trajtim t\u00eb zon\u00ebs s\u00eb prekur me rrezatim t\u00eb fokusuar (thik\u00eb gama). Nj\u00eb trajtim i till\u00eb zakonisht duhet t\u00eb ofrohet n\u00eb nj\u00eb qend\u00ebr HHT ose n\u00eb nj\u00eb qend\u00ebr tjet\u00ebr me ekspertiz\u00eb p\u00ebr keqformimet cerebrovaskulare. P\u00ebr shkak t\u00eb rrezikut t\u00eb komplikimeve, trajtimi i AVM-ve q\u00eb prekin m\u00ebl\u00e7in\u00eb zakonisht kryhet vet\u00ebm n\u00ebse individi ka d\u00ebshtim simptomatik t\u00eb m\u00ebl\u00e7is\u00eb ose d\u00ebshtim t\u00eb zemr\u00ebs. Trajtimi i linj\u00ebs s\u00eb par\u00eb p\u00ebr d\u00ebshtimin e zemr\u00ebs p\u00ebrfshin diuretik\u00ebt dhe korrigjimin e anemis\u00eb dhe fibrilacionit atrial n\u00ebse \u00ebsht\u00eb i pranish\u00ebm. P\u00ebr pacient\u00ebt me gjakderdhje AVM t\u00eb traktit gastrointestinal, ve\u00e7an\u00ebrisht n\u00ebse shoq\u00ebrohet me anemi, endoskopia me kauter \u00ebsht\u00eb zakonisht trajtimi i linj\u00ebs s\u00eb par\u00eb, megjith\u00ebse duhet p\u00ebrdorur me mas\u00eb.<\/span><\/p>\n<p><span style=\"font-size: medium;\">Terapit\u00eb k\u00ebrkimore:<\/span><\/p>\n<p><span style=\"font-size: medium;\">Bevacizumab intravenoz \u00ebsht\u00eb nj\u00eb ila\u00e7 antiangiogjen q\u00eb mund t\u00eb jepet n\u00eb m\u00ebnyr\u00eb intermitente p\u00ebr t\u00eb reduktuar epistaksin\u00eb dhe anemin\u00eb, dhe ndoshta gjakderdhjen gastrointestinale. Bazuar n\u00eb disa prova t\u00eb m\u00ebdha t\u00eb pakontrolluara, ai ka ndihmuar af\u00ebrsisht 70 &#8211; 80% t\u00eb pacient\u00ebve dhe tolerohet mjaft mir\u00eb nga pacient\u00ebt me HHT, megjith\u00ebse n\u00eb nj\u00eb num\u00ebr t\u00eb vog\u00ebl pacient\u00ebsh mund t\u00eb shfaqen efekte an\u00ebsore serioze si mpiksja e gjakut.<\/span><\/p>\n<p><span style=\"font-size: medium;\"><b>Prognoza:<\/b><\/span><\/p>\n<p><span style=\"font-size: medium;\">Jet\u00ebgjat\u00ebsia reduktohet n\u00eb pacient\u00ebt e pa kontrolluar. N\u00eb pacient\u00ebt e vler\u00ebsuar dhe trajtuar p\u00ebr AVM pulmonare n\u00eb nj\u00eb qend\u00ebr HHT, jet\u00ebgjat\u00ebsia \u00ebsht\u00eb e krahasueshme me popullat\u00ebn e p\u00ebrgjithshme.<\/span><\/p>\n\n<div style=\"font-size: 0px; height: 0px; line-height: 0px; margin: 0; padding: 0; clear: both;\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Telangiektazia hemorragjike e trash\u00ebguar ICD I78.0 Prevalenca : 1-5\/10.000 Ndarjet e telangjiektazis\u00eb hemorragjike trash\u00ebgimore: \u2022 telangiektazi hemorragjike trash\u00ebgimore Tipi 1; [&hellip;]<\/p>\n","protected":false},"author":22,"featured_media":189742,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_mo_disable_npp":"no","inline_featured_image":false},"categories":[3087],"tags":[],"imageURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2023\/02\/27-Hereditary-hemorrhagic-telangiectasia-1-650x366.png","thumbURL":"https:\/\/sdk.mk\/wp-content\/uploads\/2023\/02\/27-Hereditary-hemorrhagic-telangiectasia-1-250x141.png","categoryNames":["Maqedonia"],"feature_caption":"","subtitle":"","views":"54","source":"\u0421\u043a\u043e\u043f\u0458\u0435, (\u0421\u0410\u041a\u0410\u041c\u0414\u0410\u041a\u0410\u0416\u0410\u041c.\u041c\u041a)","yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v15.0 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: TELANGIEKTAZIA HEMORRAGJIKE E TRASH\u00cbGUAR - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/sdk.mk\/index.php\/maqedonia\/ju-njoftojme-me-semundjet-e-rralla-telangiektazia-hemorragjike-e-trasheguar\/\" \/>\n<meta property=\"og:locale\" content=\"mk_MK\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"JU NJOFTOJM\u00cb ME S\u00cbMUNDJET E RRALLA: TELANGIEKTAZIA HEMORRAGJIKE E TRASH\u00cbGUAR - \u0421\u0430\u043a\u0430\u043c \u0414\u0430 \u041a\u0430\u0436\u0430\u043c\" \/>\n<meta property=\"og:description\" content=\"Telangiektazia hemorragjike e trash\u00ebguar ICD I78.0 Prevalenca : 1-5\/10.000 Ndarjet e telangjiektazis\u00eb hemorragjike trash\u00ebgimore: \u2022 telangiektazi hemorragjike trash\u00ebgimore Tipi 1; 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