{"id":4061,"date":"2024-10-16T10:38:41","date_gmt":"2024-10-16T08:38:41","guid":{"rendered":"https:\/\/rijetke-bolesti.com\/?p=4061"},"modified":"2025-05-16T10:27:23","modified_gmt":"2025-05-16T08:27:23","slug":"mjesec-svjesnosti-o-jetri-liver-awareness-month","status":"publish","type":"post","link":"https:\/\/rijetke-bolesti.com\/en\/mjesec-svjesnosti-o-jetri-liver-awareness-month\/","title":{"rendered":"Liver Awareness Month"},"content":{"rendered":"<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"1200\" height=\"705\" src=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2024\/10\/Blog-LIVER-Awareness.jpg\" alt=\"\" class=\"wp-image-4064\" style=\"width:843px;height:auto\" srcset=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2024\/10\/Blog-LIVER-Awareness.jpg 1200w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2024\/10\/Blog-LIVER-Awareness-300x176.jpg 300w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2024\/10\/Blog-LIVER-Awareness-1024x602.jpg 1024w, https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2024\/10\/Blog-LIVER-Awareness-768x451.jpg 768w\" sizes=\"auto, (max-width: 1200px) 100vw, 1200px\" \/><\/figure>\n\n\n\n<p>Listopad je mjesec u kojem \u0161iroku javnost podsje\u0107amo na bolesti jetre kao i na samu va\u017enost njenog zdravlja te prevenciju i ranu detekciju razli\u010ditih bolesti (engl. <em>Liver Awareness Month<\/em>).<\/p>\n\n\n\n<p>Primarni organizator ove akcije u po\u010detku je bila Ameri\u010dka fondacija za jetru (engl. <em>American Liver Foundation<\/em>, ALF), a s vremenom su je prihvatile i ostale dr\u017eave \u0161irom svijeta.<\/p>\n\n\n\n<p>Za\u0161to je zdravlje jetre va\u017eno? Jetra igra presudnu ulogu u detoksikaciji organizma, produkciji esencijalnih enzima kao i pohranjivanju razli\u010ditih nutrijenata.<\/p>\n\n\n\n<p>Bolesti jetre obuhva\u0107aju \u0161irok raspon oboljenja koja utje\u010du na njenu funkciju te vode u ozbiljne poreme\u0107aje zdravstvenog stanja, posebno ukoliko se ne lije\u010de.<\/p>\n\n\n\n<p>Iako su bolesti jetre brojne, me\u0111u najva\u017enije spadaju hepatitisi (A, B i C), nealkoholna masna bolest jetre (engl. <em>nonalcoholic fatty liver disease<\/em>, NAFLD), bolesti vezane uz prekomjerno konzumiranje alkohola, ciroza, tumori i genetski uvjetovane bolesti jetre. Faktori rizika oboljenja jetre su prekomjerno konzumiranje alkohola, virusne infekcije, debljina i metaboli\u010dki sindrom, autoimunosne bolesti, lijekovi, toksini i genetski \u010dimbenici.<\/p>\n\n\n\n<p>Nastavno na prethodno, jedna od brojnih genetskih bolesti jetre je i metaboli\u010dka bolest nedostatka lizosomske kisele lipaze (engl. <em>Lysosomal Acid Lipase Deficiency<\/em>, LAL-D).<\/p>\n\n\n\n<p>LAL-D je rijetka autosomno recesivna bolest uzrokovana mutacijama unutar gena <em>LIPA <\/em>koje rezultiraju gotovo potpunim ili potpunim gubitkom aktivnosti LAL enzima. Nedostaci funkcionalnog LAL enzima dovode do izostanka ili smanjenja razgradnje kolesterolskih estera i triglicerida. Kao rezultat, dolazi do nakupljanja kolesterolskih estera i triglicerida u jetri, slezeni i drugim organima, \u0161to mo\u017ee dovesti do disfunkcije zahva\u0107enih organa, odnosno hepatomegalije, splenomegalije, mikrovezikularne steatoze, ciroze, dislipidemije, ubrzane ateroskleroze i gastrointestinalne disfunkcije.<\/p>\n\n\n\n<p>Prevalencija LAL-D kod novoro\u0111en\u010dadi (ranije poznata kao Wolmanova bolest) procijenjena je na 2,9 na milijun ro\u0111enih. Postoje razlike izme\u0111u dojen\u010dadi s brzo progresivnom bole\u0161\u0107u, koja je smrtonosna ako se ne lije\u010di, i djece\/odrasle populacije kod kojih dolazi do o\u0161te\u0107enja jetre i\/ili dislipidemije.<\/p>\n\n\n\n<p>U djece i odraslih, dob po\u010detka klini\u010dkih manifestacija LAL-D varira. Medijan dobi na po\u010detku bolesti je 5 godina s rasponom od &lt;1 do 68 godina. Po\u010detak i\/ili dijagnoza bolesti doga\u0111aju se tijekom adolescencije ili odrasle dobi u samo 11% pacijenata.<\/p>\n\n\n\n<p>LAL-D se \u010desto o\u010dituje u jetri, ali mo\u017ee utjecati na vi\u0161e organskih sustava uklju\u010duju\u0107i kardiovaskularni i gastrointestinalni sustav.<\/p>\n\n\n\n<p>LAL-D koji se javlja u dojen\u010dadi brzo napreduje, a karakteriziraju ga povra\u0107anje, proljev, zastoj u rastu, hepatomegalija i bolest jetre te pove\u0107anje nadbubre\u017ene \u017elijezde sa ili bez kalcifikacije. Uzrok smrti dojen\u010dadi naj\u010de\u0161\u0107e je pothranjenost, bolest jetre ili insuficijencija nadbubre\u017ene \u017elijezde.<\/p>\n\n\n\n<p>Klini\u010dka slika LAL-D u djece i odraslih varijabilnija je nego u dojen\u010dadi. Bolesnici s te\u0161kim oblicima LAL-D \u010desto imaju bolove u trbuhu, proljev, povra\u0107anje, zastoj u razvoju, promijenjen motilitet crijeva, kolitis, hepatomegaliju i splenomegaliju, kao i abnormalne rezultate testova jetrene funkcije, dislipidemiju (povi\u0161ene razine LDL kolesterola i triglicerida, niske razine HDL kolesterola) i ubrzanu aterosklerozu. U bolesnika s manje te\u0161kim oblicima bolesti hepatomegalija, disfunkcija jetre i dislipidemija \u010desto su 3 glavne karakteristike u prezentaciji.<\/p>\n\n\n\n<p>LAL-D se \u010desto pogre\u0161no dijagnosticira zbog svoje rijetkosti, nedostatka svijesti o bolesti i preklapanja simptoma s drugim stanjima. U Me\u0111unarodnom registru LAL-D, ukupni medijan vremena od pojave simptoma do dijagnosti\u010dkog testiranja bio je 3,3 godine. U dojen\u010dadi se LAL- D mo\u017ee pogre\u0161no dijagnosticirati kao Gaucherova bolest, Niemann-Pickova bolest, hemofagocitna limfohistiocitoza ili leukemija. U djece i odraslih simptomi se preklapaju sa simptomima drugih bolesti jetre (NAFLD) i drugih hiperkolesterolemi\u010dnih poreme\u0107aja (obiteljska hiperkolesterolemija, obiteljska mije\u0161ana hiperlipidemija, poligenska hiperkolesterolemija, metaboli\u010dki sindrom).<\/p>\n\n\n\n<p>Metoda osu\u0161ene kapi krvi brza je i pouzdana metoda za dijagnosticiranje LAL-D. Ova metoda jasno identificira pacijente s niskom aktivnosti ili izostankom aktivnosti LAL-a, preporu\u010dena je kao dijagnosti\u010dka metoda izbora i omogu\u0107uje probir velike rizi\u010dne populacije. LAL aktivnost manja od 5% normalne (kontrolne) aktivnosti enzima ukazuje na LAL-D. Nedostatna aktivnost LAL-a tako\u0111er se mo\u017ee mjeriti u leukocitima i fibroblastima iz krvi.<\/p>\n\n\n\n<p>Rana dijagnoza LAL-D je klju\u010dna jer je, na temelju pretpostavke da dovodi do ranijeg lije\u010denja, povezana s boljim ishodima. S obzirom na va\u017enost rane dijagnoze i lije\u010denja, predlo\u017eeno je da se razmotri probir novoro\u0111en\u010dadi na LAL-D.<\/p>\n\n\n\n<p>\u010cak i s u\u010dinkovitim lije\u010denjem kao \u0161to je specifi\u010dna enzimska nadomjesna terapija, postizanje normalnog rasta u dojen\u010dadi s LAL-D mo\u017ee zahtijevati smanjenje unosa masti u prehrani, modificiranu potpunu parenteralnu prehranu temeljenu na aminokiselinama uz restrikciju masti, modificiranu enteralnu ishranu te enteralnu ili parenteralnu nadoknadu \u017eeljeza.<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"139\" height=\"175\" src=\"https:\/\/rijetke-bolesti.com\/wp-content\/uploads\/2024\/10\/jetra-1.jpg\" alt=\"\" class=\"wp-image-4065\"\/><\/figure>\n\n\n\n<p>REFERENCE:<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Balwani M, Balistreri W, D&#8217;Antiga L, et al. Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry. <em>Liver Int. <\/em>2023;43:1537-1547.<\/li>\n\n\n\n<li>Bernstein DL, Hulkova H, Bialer MG, et al. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. <em>J Hepatol. <\/em>2013;58:1230-1243.<\/li>\n\n\n\n<li>Bernstein DL, Lobritto S, Iuga A, et al. Lysosomal acid lipase deficiency allograft recurrence and liver failure- clinical outcomes of 18 liver transplantation patients. <em>Mol Genet Metab. <\/em>2018;124:11-19.<\/li>\n\n\n\n<li>Burton BK, Deegan PB, Enns GM, et al. Clinical features of lysosomal acid lipase deficiency &#8211; a longitudinal assessment of 48 children and adults. <em>J Pediatr Gastroenterol Nutr. <\/em>2015b;61:619-625.<\/li>\n\n\n\n<li>Del Angel G, Hutchinson AT, Jain NK, et al. Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency. <em>Hum Mutat. <\/em>2019;40:2007-2020.<\/li>\n\n\n\n<li>Grabowski GA, Charnas L, Du H. Lysosomal acid lipase deficiencies: the Wolman disease\/cholesteryl ester storage disease spectrum. In: Valle D, Beaudet AL, Vogelstein<\/li>\n\n\n\n<li>Hoffman EP, Barr ML, Giovanni MA, et al. Lysosomal acid lipase deficiency. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. <em>GeneReviews<sup>\u00ae<\/sup><\/em>. Seattle, WA: University of Washington; 2015.<\/li>\n\n\n\n<li>Hong X, Chen Y, Barr M, et al. Stratification of patients with lysosomal acid lipase deficiency by enzyme activity in dried blood spots. <em>Mol Genet Metab Rep. <\/em>2022;33:100935. Published 2022 Nov 10. doi:10.1016\/j.ymgmr.2022.100935<\/li>\n\n\n\n<li>Lukacs Z, Barr M, Hamilton J. Best practice in the measurement and interpretation of lysosomal acid lipase in dried blood spots using the inhibitor Lalistat 2. <em>Clin Chim Acta. <\/em>2017;471:201-205. doi:10.1016\/j.cca.2017.05.027<\/li>\n\n\n\n<li>Maciejko JJ. Managing cardiovascular risk in lysosomal acid lipase deficiency. <em>Am J Cardiovasc Drugs. <\/em>2017;17:217-231. doi:10.1007\/s40256-017-0216-5<\/li>\n\n\n\n<li>Reynolds T. Cholesteryl ester storage disease: a rare and possibly treatable cause of premature vascular disease and cirrhosis. <em>J Clin Pathol. <\/em>2013;66:918-923. doi:10.1136\/jclinpath-2012-201302<\/li>\n<\/ol>","protected":false},"excerpt":{"rendered":"<p>October is the month in which we remind the general public about liver diseases, as well as the importance of liver health, prevention, and early detection of various conditions (Liver Awareness Month). The primary organizer of this campaign was initially the American Liver Foundation\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-4061","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.0 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Mjesec svjesnosti o jetri - 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\/mjesec-svjesnosti-o-jetri-liver-awareness-month\/\" \/>\n<meta property=\"og:locale\" content=\"en_GB\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mjesec svjesnosti o jetri - Hrvatski savez za rijetke bolesti\" \/>\n<meta property=\"og:description\" content=\"Listopad je mjesec u kojem \u0161iroku javnost podsje\u0107amo na bolesti jetre kao i na samu va\u017enost njenog zdravlja te prevenciju i ranu detekciju razli\u010ditih bolesti (engl. Liver Awareness Month). Primarni organizator ove akcije u po\u010detku je bila Ameri\u010dka fondacija za jetru (engl. 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