{"id":4003,"date":"2024-09-24T09:07:57","date_gmt":"2024-09-24T07:07:57","guid":{"rendered":"https:\/\/rijetke-bolesti.com\/?p=4003"},"modified":"2024-09-24T09:09:41","modified_gmt":"2024-09-24T07:09:41","slug":"transtiretinska-amiloidoza","status":"publish","type":"post","link":"https:\/\/rijetke-bolesti.com\/en\/transtiretinska-amiloidoza\/","title":{"rendered":"TRANSTHYRETIN AMYLOIDOSIS"},"content":{"rendered":"
\"\"<\/figure>\n\n\n\n

Amiloidoza je kroni\u010dna sustavna bolest uzrokovana nakupljanjem patolo\u0161ki oblikovanih proteina. Do sada je opisano vi\u0161e od 30 proteina koji mogu stvarati amiloidne nakupine, uklju\u010duju\u0107i proteine nu\u017ene za funkciju organizma, ali i one koje nalazimo samo u patolo\u0161kim stanjima. (1)<\/p>\n\n\n\n

U transtiretinskoj amiloidozi nakuplja se tetramer transtiretin zbog mutacije gena ili kao posljedica starenja organizma. Nakupljanje transtiretina u srcu dovodi do zadebljanja stijenki miokarda, poreme\u0107aja provodnoga sustava te razvoja simptoma i znakova popu\u0161tanja srca.(2)<\/p>\n\n\n\n

Amiloidoza je rijetka bolest u op\u0107oj populaciji te se vrlo \u010desto, zbog svoje heterogenosti otkriva kasno, tek kada bolesnici imaju uznapredovalu klini\u010dku sliku. (2)<\/p>\n\n\n\n

Transtiretinska amiloidoza podrazumijeva dva razli\u010dita klini\u010dka oblika bolesti:<\/p>\n\n\n\n

    \n
  1. nasljednu transtiretinsku amiloidozu (tzv. ,ATTRv prema engl. Amyloid TransThyRetin variant)<\/li>\n\n\n\n
  2. transtiretinsku amiloidozu divljega tipa ili senilnu sistemsku amiloidozu (tzv., ATTRwt prema engl. Amyloid TransThyRetin wild type). (1,2)<\/li>\n<\/ol>\n\n\n\n

    Kako bolest napreduje, bolesnici osje\u0107aju pogor\u0161anje simptoma zatajenja srca, uklju\u010duju\u0107i umor,zaduhu, smanjena je sposobnost vje\u017ebanja i naru\u0161ena kvaliteta \u017eivota povezana sa zdravljem.(3)<\/p>\n\n\n\n

    Prognoza je nepovoljna te je pre\u017eivljenje bolesnika nakon dijagnoze 2,5 do 5 godina. (2) Jedan od najva\u017enijih uzroka lo\u0161ega ishoda jest kasno otkrivanje bolesti. (4)<\/p>\n\n\n\n

    Dijagnosticiranje i lije\u010denje bolesnika s transtiretinskom kardiomiopatijom je zahtjevno, a najve\u0107i je izazov pravodobno postavljanje klini\u010dke sumnje na amiloidnu transtiretinsku kardiomiopatiju.(3)<\/p>\n\n\n\n

    Na\u017ealost, prepoznavanje transtiretinske amiloidoze je komplicirano jer su simptomi nespecifi\u010dni i mogu nalikovati drugim, \u010de\u0161\u0107im stanjima \u0161to obi\u010dno rezultira ka\u0161njenjem pri postavljanju dijagnoze, nekad i vi\u0161e godina. Ako se pravodobno ne lije\u010de odgovaraju\u0107om terapijom, ti simptomi s vremenom dovode do zatajivanja srca i fatalnog ishoda. Stoga su pravovremeno dijagnosticiranje i \u0161to raniji po\u010detak lije\u010denja od najve\u0107e va\u017enosti za produljene \u017eivota bolesnika. (3,4)<\/p>\n\n\n\n

    Nasljedna transtiretinska amiloidoza (engl. hereditary transthyretin-mediated amyloidosis, hATTR) je rijetka bolest koja, ako nije lije\u010dena, za posljedicu u perifernom \u017eiv\u010danom sustavu ima ireverzibilno aksonalno o\u0161te\u0107enje sve tri vrste vlakana perifernih \u017eivaca (osjetna, motorna, autonomna), no, sukladno svojoj multisistemskoj i progresivnoj prirodi, uzrokuje i kardiomiopatiju, autonomnu disfunkciju, o\u0161te\u0107enje sredi\u0161njeg \u017eiv\u010danog sustava, bubrega i oka. (6)<\/p>\n\n\n\n

    Posljednjih je godina sve ve\u0107a pouzdanost i to\u010dnost neinvazivnih slikovnih metoda u dijagnosticiranju amiloidne transtiretinske kardiomiopatije, \u0161to znatno olak\u0161ava i ubrzava dijagnosti\u010dki postupak. Velik je napredak u\u010dinjen i u lije\u010denju bolesnika, razvojem lijekova koji utje\u010du na ishode bolesnika s amiloidnom transtiretinskom kardiomiopatijom. (5)<\/p>\n\n\n\n

    Cilj ovoga \u010dlanka jest podizanje svjesnosti o transtiretinskoj amiloidozi s obzirom na va\u017enost ranog otkrivanja i pravodobnoga lije\u010denja bolesnika.<\/p>\n\n\n\n

    <\/p>\n\n\n\n

    Reference:<\/p>\n\n\n\n

      \n
    1. Kittleson MM, Maurer MS, Ambardekar AV, et al. Cardiac amyloidosis: evolving diagnosis and management. A scientific statement from the American Heart Association. Circulation.2020 Jul 7;142(1):e7-e22<\/li>\n\n\n\n
    2. Yamamoto H, Yokochi T. Transthyretin cardiac amyloidosis: an update on diagnosis and treatment. ESC Heart Fail. 2019;6: 1128-1139.<\/li>\n\n\n\n
    3. Maurer MS, Bokhari S, Damy T, et al. Expert consensus recommendations for the suspicion and diagnosis of transthyretin cardiac amyloidosis. Circ Heart Fail 2019;12: e006075.<\/li>\n\n\n\n
    4. Rozenbaum MH et al. Estimating the health benefits of timelydiagnosis and treatment of transtiretin amyloid cardiomyopathy. J Comp Eff Res. 2021;10(11):927-938<\/li>\n\n\n\n
    5. Ruberg FL, Grogan M, Hanna M, Kelly JW, Maurer MS.Transthyretin amyloid cardiomyopathy: JACC state-of-the-art review. J Am Coll Cardiol. 2019;68: 1323-1341.<\/li>\n\n\n\n
    6. Losada I, Gonzalez-Moreno J, Rodriguez A et al. Multidisciplinary approach in the management of hATTR Eur J Clin Invest 2020; 50: 1-5<\/li>\n<\/ol>\n\n\n\n

      <\/p>","protected":false},"excerpt":{"rendered":"

      Amyloidosis is a chronic systemic disease caused by the accumulation of abnormally folded proteins. To date, more than 30 proteins capable of forming amyloid deposits have been described, including proteins essential for normal body function as well as those found only in pathological conditions. (1) In transthyretin amyloidosis, the tetramer\u2026<\/p>","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"content-type":"","footnotes":""},"categories":[1],"tags":[],"class_list":["post-4003","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nTRANSTIRETINSKA AMILOIDOZA - Hrvatski savez za rijetke bolesti<\/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:\/\/rijetke-bolesti.com\/en\/transtiretinska-amiloidoza\/\" \/>\n<meta property=\"og:locale\" content=\"en_GB\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"TRANSTIRETINSKA AMILOIDOZA - Hrvatski savez za rijetke bolesti\" \/>\n<meta property=\"og:description\" content=\"Amiloidoza je kroni\u010dna sustavna bolest uzrokovana nakupljanjem patolo\u0161ki oblikovanih proteina. 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