{"id":22876,"date":"2015-09-29T09:34:02","date_gmt":"2015-09-29T07:34:02","guid":{"rendered":"http:\/\/www.invarena.cz\/?p=22876"},"modified":"2015-09-29T19:50:54","modified_gmt":"2015-09-29T17:50:54","slug":"geneticka-porucha-muze-zavinit-infarkt-i-u-deti-mladsich-10-let","status":"publish","type":"post","link":"https:\/\/www.invarena.cz\/?p=22876","title":{"rendered":"Genetick\u00e1 porucha m\u016f\u017ee zavinit infarkt i u d\u011bt\u00ed mlad\u0161\u00edch 10 let"},"content":{"rendered":"<p><strong>Rizikov\u00e9 faktory m\u016f\u017eeme v\u011bt\u0161inou ovlivnit sv\u00fdm chov\u00e1n\u00edm. &#8222;Existuj\u00ed ale i v\u00fdjimky \u2013 nap\u0159\u00edklad u onemocn\u011bn\u00ed famili\u00e1rn\u00ed hypercholesterolemi\u00ed, co\u017e je geneticky podm\u00edn\u011bn\u00e1 metabolick\u00e1 porucha charakterizovan\u00e1 v\u00fdrazn\u00fdm zv\u00fd\u0161en\u00edm hladin cholesterolu v krvi,&#8220; \u0159\u00edk\u00e1 p\u0159edseda \u010cesk\u00e9 spole\u010dnosti pro ateroskler\u00f3zu Michal Vrabl\u00edk.<\/strong> <!--more--><\/p>\n<p>&#8211; Jak lze charakterizovat famili\u00e1rn\u00ed hypercholesterolemii (FH) a \u010d\u00edm se li\u0161\u00ed od &#8222;b\u011b\u017en\u00e9ho&#8220; zv\u00fd\u0161en\u00ed cholesterolu?<\/p>\n<p>Onemocn\u011bn\u00ed p\u0159edstavuje skupinu geneticky podm\u00edn\u011bn\u00fdch onemocn\u011bn\u00ed, charakterizovanou velmi v\u00fdznamn\u011b zv\u00fd\u0161en\u00fdmi hladinami krevn\u00edho cholesterolu. FH podmi\u0148uje odchylka jednoho genu a p\u0159en\u00e1\u0161\u00ed se na dal\u0161\u00ed generace tzv. dominantn\u00ed formou d\u011bdi\u010dnosti. Z toho vypl\u00fdv\u00e1, \u017ee polovina potomk\u016f pacient\u016f s touto poruchou bude tak\u00e9 posti\u017eena. Na rozd\u00edl od &#8222;b\u011b\u017en\u00e9ho&#8220; zv\u00fd\u0161en\u00ed cholesterolu o 20 a\u017e 40 procent nad normu (kter\u00e9 v \u010cesku nach\u00e1z\u00edme a\u017e u 80 procent dosp\u011bl\u00e9 populace), u pacient\u016f s FH detekujeme hladiny dvakr\u00e1t a\u017e \u010dty\u0159ikr\u00e1t vy\u0161\u0161\u00ed, ne\u017e p\u0159ipou\u0161t\u00ed norma. Tato nemoc zp\u016fsobuje dramatick\u00e9 urychlen\u00ed ateroskler\u00f3zy a pacienti mohou zem\u0159\u00edt na infarkt nebo mozkovou mrtvici u\u017e kolem p\u011btat\u0159ic\u00e1t\u00e9ho roku v\u011bku. U nejv\u00e1\u017en\u011bji posti\u017een\u00fdch, kte\u0159\u00ed z\u00edskali vlohu pro onemocn\u011bn\u00ed od obou rodi\u010d\u016f, b\u00fdvaj\u00ed zaznamen\u00e1ny i p\u0159\u00edpady infarktu u d\u011bt\u00ed mlad\u0161\u00edch deseti let.<\/p>\n<p>&#8211; Co tedy m\u00e1me d\u011blat, kdy\u017e se u n\u011bkoho v rodin\u011b tato nemoc vyskytne?<\/p>\n<p>S ohledem na typ d\u011bdi\u010dnosti je velmi pravd\u011bpodobn\u00e9, \u017ee v p\u0159\u00edpad\u011b v\u00fdskytu u jednoho \u010dlena rodiny najdeme vy\u0161et\u0159en\u00edm p\u0159\u00edbuzn\u00fdch i dal\u0161\u00ed nositele. Proto je nezbytn\u00e9 p\u0159esv\u011bd\u010dit co nejv\u00edce p\u0159\u00edbuzn\u00fdch k vy\u0161et\u0159en\u00ed. Prvn\u00edm krokem k odhalen\u00ed famili\u00e1rn\u00ed hypercholesterolemie je b\u011b\u017en\u00e9 a prakticky nebolestiv\u00e9 vy\u0161et\u0159en\u00ed hladin cholesterolu v krvi. Samoz\u0159ejm\u011b ne ka\u017ed\u00fd, kdo m\u00e1 zv\u00fd\u0161en\u00e9 hladiny cholesterolu v krvi, mus\u00ed m\u00edt diagn\u00f3zu FH. Informace o t\u00e9to problematice si ka\u017ed\u00fd m\u016f\u017ee naj\u00edt na webov\u00fdch str\u00e1nk\u00e1ch organizace pacient\u016f s FH (www.diagnozafh. cz) a tak\u00e9 se zde dot\u00e1zat na pravd\u011bpodobnost, zdali trp\u00ed touto poruchou a jak m\u00e1 postupovat. Zaj\u00edt do lipidov\u00e9 poradny by ale m\u011bli v\u0161ichni, kter\u00fdm v rodin\u011b zem\u0159el p\u0159\u00edbuzn\u00fd na infarkt nebo mrtvici je\u0161t\u011b p\u0159ed sv\u00fdmi p\u011btapades\u00e1t\u00fdmi narozeninami. Takov\u00e9 \u00famrt\u00ed nen\u00ed b\u011b\u017en\u00e9 a p\u0159\u00edbuzn\u00ed by si m\u011bli nechat vy\u0161et\u0159it nejen hladinu cholesterolu v krvi, ale i dal\u0161\u00ed rizikov\u00e9 faktory. Pro ty, u nich\u017e se vy\u0161et\u0159en\u00edm zjist\u00ed v\u00fdrazn\u011b vy\u0161\u0161\u00ed hodnoty cholesterolu v krvi, je vhodn\u00e9 podstoupit genetick\u00e9 testy, kter\u00e9 potvrd\u00ed, nebo vylou\u010d\u00ed diagn\u00f3zu. \u010casn\u00e9 odhalen\u00ed nemoci a jej\u00ed dlouhodob\u00e1 l\u00e9\u010dba zaji\u0161\u0165uje v\u00fdznamn\u00e9 zlep\u0161en\u00ed progn\u00f3zy a takto l\u00e9\u010den\u00ed pacienti maj\u00ed \u0161anci na pro\u017eit\u00ed stejn\u011b &#8222;zdrav\u00e9ho&#8220; a dlouh\u00e9ho \u017eivota jako neposti\u017een\u00ed.<\/p>\n<p>&#8211; Je vyhled\u00e1v\u00e1n\u00ed a l\u00e9\u010dba t\u00e9to poruchy n\u00e1ro\u010dn\u00e1?<\/p>\n<p>\u010cesk\u00e1 republika pat\u0159\u00ed v t\u00e9to oblasti ke sv\u011btov\u00e9 \u0161pi\u010dce. Systematick\u00fdm vyhled\u00e1v\u00e1n\u00edm nemocn\u00fdch a jejich veden\u00edm v registru Medped, kter\u00fd \u010cesk\u00e1 spole\u010dnost pro ateroskler\u00f3zu vytv\u00e1\u0159\u00ed ji\u017e 16 let, se poda\u0159ilo identifikovat t\u00e9m\u011b\u0159 6500 nemocn\u00fdch s FH. To p\u0159edstavuje asi t\u0159icet procent z p\u0159edpokl\u00e1dan\u00e9ho po\u010dtu posti\u017een\u00fdch a v po\u010dtu \u00fasp\u011b\u0161n\u00fdch diagn\u00f3z n\u00e1s to \u0159ad\u00ed na t\u0159et\u00ed p\u0159\u00ed\u010dku v celosv\u011btov\u00e9m srovn\u00e1n\u00ed. Jak ale ukazuj\u00ed posledn\u00ed v\u00fdzkumy, m\u016f\u017ee b\u00fdt v\u00fdskyt choroby je\u0161t\u011b \u010dast\u011bj\u0161\u00ed. Rozhodn\u011b tedy nem\u00e1me d\u016fvod sp\u00e1t na vav\u0159\u00ednech a radovat se z pomysln\u00e9ho bronzu, st\u00e1le je v\u00edce pr\u00e1ce p\u0159ed n\u00e1mi ne\u017e za n\u00e1mi. Z\u00e1kladem l\u00e9\u010dby jsou statiny, jejich\u017e hlavn\u00edm mechanismem \u00fa\u010dinku je sn\u00ed\u017een\u00ed produkce cholesterolu uvnit\u0159 bun\u011bk.<\/p>\n<p>&#8211; M\u016f\u017eete v\u00edce up\u0159esnit jejich \u00fa\u010dinky?<\/p>\n<p>D\u00edky nim bu\u0148ky za\u010d\u00ednaj\u00ed v\u00edce vychyt\u00e1vat cholesterol z krve a doch\u00e1z\u00ed tak ke sn\u00ed\u017een\u00ed jeho hladin. Krom\u011b toho se statin\u016fm p\u0159ipisuj\u00ed je\u0161t\u011b dal\u0161\u00ed p\u0159\u00edzniv\u00e9 vlivy na c\u00e9vn\u00ed syst\u00e9m a jeho funkci (protiz\u00e1n\u011btliv\u00e9, protisr\u00e1\u017eliv\u00e9, antioxida\u010dn\u00ed). Pou\u017e\u00edv\u00e1me je v nejvy\u0161\u0161\u00edch d\u00e1vk\u00e1ch a \u010dasto je kombinujeme s dal\u0161\u00edmi l\u00e9\u010divy. Ani tak ale v\u011bt\u0161ina pacient\u016f nedosahuje po\u017eadovan\u00fdch c\u00edl\u016f l\u00e9\u010dby a sn\u00ed\u017een\u00ed hladin cholesterolu nen\u00ed dostate\u010dn\u00e9. I proto je dob\u0159e, \u017ee pokra\u010duje hled\u00e1n\u00ed nov\u00fdch mo\u017enost\u00ed l\u00e9\u010dby. Ka\u017edop\u00e1dn\u011b jsou nezbytnou l\u00e9\u010dbou pro pacienty s famili\u00e1rn\u00ed hypercholesterolemi\u00ed, kde se s jejich pou\u017eit\u00edm n\u011bkdy za\u010d\u00edn\u00e1 u\u017e v d\u011btsk\u00e9m v\u011bku.<\/p>\n<p>&#8211; Hod\u00ed se statiny i pro jin\u00e9 pacienty ne\u017e s touto nemoc\u00ed?<\/p>\n<p>Lze \u0159\u00edci, \u017ee prosp\u00edvaj\u00ed i dal\u0161\u00edm skupin\u00e1m nemocn\u00fdch. Zcela nezbytn\u00e9 jsou u pacient\u016f po prod\u011blan\u00e9m infarktu myokardu, c\u00e9vn\u00ed mozkov\u00e9 p\u0159\u00edhod\u011b, c\u00e9vn\u00ed operaci, ale tak\u00e9 u diabetik\u016f nebo osob s chronick\u00fdmi chorobami ledvin. Jsou d\u016fkazy, \u017ee chr\u00e1n\u00ed p\u0159ed kardiovaskul\u00e1rn\u00edmi komplikacemi i v \u0159ad\u011b dal\u0161\u00edch klinick\u00fdch situac\u00ed, a proto nen\u00ed divu, \u017ee v \u010cesk\u00e9 republice m\u00e1me v\u00edce ne\u017e 900 tis\u00edc u\u017eivatel\u016f.<\/p>\n<p>Pra\u017esk\u00fd den\u00edk<br \/>\n<a href=\"http:\/\/www.prazsky.denik.cz\/\">http:\/\/www.prazsky.denik.cz\/<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<div class=\"mh-excerpt\"><p>Rizikov\u00e9 faktory m\u016f\u017eeme v\u011bt\u0161inou ovlivnit sv\u00fdm chov\u00e1n\u00edm. &#8222;Existuj\u00ed ale i v\u00fdjimky \u2013 nap\u0159\u00edklad u onemocn\u011bn\u00ed famili\u00e1rn\u00ed hypercholesterolemi\u00ed, co\u017e je geneticky podm\u00edn\u011bn\u00e1 metabolick\u00e1 porucha charakterizovan\u00e1 v\u00fdrazn\u00fdm <a class=\"mh-excerpt-more\" href=\"https:\/\/www.invarena.cz\/?p=22876\" title=\"Genetick\u00e1 porucha m\u016f\u017ee zavinit infarkt i u d\u011bt\u00ed mlad\u0161\u00edch 10 let\">[&#8230;]<\/a><\/p>\n<\/div>","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[9],"tags":[],"class_list":["post-22876","post","type-post","status-publish","format-standard","hentry","category-zpravy"],"_links":{"self":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/22876","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=22876"}],"version-history":[{"count":0,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=\/wp\/v2\/posts\/22876\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=22876"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=22876"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.invarena.cz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=22876"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}