{"id":15163,"date":"2026-03-20T00:00:54","date_gmt":"2026-03-19T23:00:54","guid":{"rendered":"https:\/\/dev.institutchiaribcn.com\/enfermedades\/sindrome-de-ehlers-danlos-causa-e-tratamento-segundo-o-filum-system\/"},"modified":"2026-03-26T13:08:50","modified_gmt":"2026-03-26T12:08:50","slug":"sindrome-de-ehlers-danlos-causa-e-tratamento-segundo-o-filum-system","status":"publish","type":"enfermedades","link":"https:\/\/institutchiaribcn.com\/pt\/sindrome-de-ehlers-danlos-causa-e-tratamento-segundo-o-filum-system\/","title":{"rendered":"S\u00edndrome de Ehlers-Danlos"},"content":{"rendered":"<p><strong>\u00daltima atualiza\u00e7\u00e3o: 20\/03\/2026, <\/strong><a href=\"https:\/\/institutchiaribcn.com\/pt\/equipe-clinica\/\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>Dr. Miguel B. Royo Salvador<\/strong><\/a>, <strong>n\u00famero de registro m\u00e9dico: 10389. Neurocirurgi\u00e3o e Neurologista.<\/strong><\/p>\n<h2 style=\"text-align: justify;\"><strong>Definici\u00f3<\/strong><\/h2>\n<p style=\"text-align: justify;\">A S\u00edndrome de Ehlers-Danlos (EDS) inclui um grupo complexo de dist\u00farbios heterog\u00eaneos, de car\u00e1ter heredit\u00e1rio, caracterizados pela fragilidade dos tecidos conjuntivos moles, com hipermobilidade articular, extensibilidade da pele e complica\u00e7\u00f5es vasculares.<\/p>\n<p>A manifesta\u00e7\u00e3o cl\u00ednica pode ser altamente vari\u00e1vel, com muitos tipos diferentes, incluindo: EDS cl\u00e1ssica, EDS hiperm\u00f3vel, EDS tipo dermatosparaxis, EDS m\u00fasculo-contratural, EDS vascular, EDS tipo artrocalasia, EDS valvular card\u00edaca, EDS tipo periodontal, EDS espondilodispl\u00e1sica, EDS ligada ao cromossomo X, s\u00edndrome da c\u00f3rnea fr\u00e1gil, EDS similar \u00e0 cl\u00e1ssica tipo 1 e tipo 2, EDS cifo-escoli\u00f3tica e EDS miop\u00e1tica.<\/p>\n<p>&nbsp;<\/p>\n<hr \/>\n<h2 style=\"text-align: justify;\"><strong>Sintomas <\/strong><\/h2>\n<p style=\"text-align: justify;\"><strong>O quadro cl\u00ednico inclui uma grande variedade de sintomas, dependendo do tipo: <\/strong><\/p>\n<p>&nbsp;<\/p>\n<ul style=\"text-align: justify;\">\n<li>Hiperlaxidade ou luxa\u00e7\u00e3o articular<\/li>\n<li>Pele que se estica, apresenta equimoses e se danifica facilmente<\/li>\n<li>Cicatriza\u00e7\u00e3o f\u00e1cil e d\u00e9ficit na cura de feridas<\/li>\n<li>P\u00e9s chatos<\/li>\n<li>Aumento da mobilidade articular, estalos nas articula\u00e7\u00f5es, artrite precoce<\/li>\n<li>Rompimento prematuro de membranas durante o parto<\/li>\n<li>Problemas de vis\u00e3o<\/li>\n<li>Pele flex\u00edvel, ou fr\u00e1gil, ou macia e aveludada<\/li>\n<li>Dor articular<\/li>\n<li>Dor cr\u00f3nica<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<hr \/>\n<h2 style=\"text-align: justify;\"><strong>Causas <\/strong><\/h2>\n<p style=\"text-align: justify;\">Em geral, nas s\u00edndromes de Ehlers-Danlos, h\u00e1 muta\u00e7\u00f5es gen\u00e9ticas que influenciam na produ\u00e7\u00e3o do col\u00e1geno e, em alguns subtipos, de outras prote\u00ednas que interagem com ele.<br \/>\nIsso faz com que o tecido conjuntivo se enfraque\u00e7a.<br \/>\nDependendo do \u00f3rg\u00e3o ou tecido afetado pela altera\u00e7\u00e3o, resulta em um tipo espec\u00edfico de EDS.<\/p>\n<p>De acordo com o Filum System\u00ae (FS\u00ae), a patologia vertebral na EDS pode estar relacionada a uma poss\u00edvel S\u00edndrome Neuro-cr\u00e2nio-vertebral (SNCV), decorrente do alongamento da coluna vertebral pela laxidade dos elementos que a comp\u00f5em, tracionando o Sistema Nervoso Central (SNC) e, em particular, a medula espinhal.<\/p>\n<p>&nbsp;<\/p>\n<hr \/>\n<h2 style=\"text-align: justify;\"><strong>Diagn\u00f3stico <\/strong><\/h2>\n<p style=\"text-align: justify;\">O diagn\u00f3stico, em geral, baseia-se na anamnese do paciente e no hist\u00f3rico familiar, sendo heredit\u00e1rio, e depois direciona-se para determinar o tipo espec\u00edfico com base em crit\u00e9rios cl\u00ednicos.<\/p>\n<p>Em uma segunda etapa diagn\u00f3stica, procede-se \u00e0 avalia\u00e7\u00e3o por meio de estudos gen\u00e9ticos, que n\u00e3o s\u00e3o conclusivos, mas podem ser abrangentes a partir da suspeita de um tipo espec\u00edfico de EDS.<\/p>\n<p>O SNCV que acompanha a EDS \u00e9 diagnosticado com o FS\u00ae: a cl\u00ednica e os exames complementares, como as RM do cr\u00e2nio, coluna vertebral e o Escoliograma.<\/p>\n<p>&nbsp;<\/p>\n<hr \/>\n<h2 style=\"text-align: justify;\"><strong>Fatores de Risco da EDS<\/strong><\/h2>\n<p style=\"text-align: justify;\">Os antecedentes familiares constituem um fator de risco em alguns casos.<\/p>\n<p>&nbsp;<\/p>\n<hr \/>\n<h2 style=\"text-align: justify;\"><strong>Complicacions<\/strong><\/h2>\n<p style=\"text-align: justify;\">Per norma general, l&#8217;expectativa de vida \u00e9s l\u2019habitual, tot i que, en certs tipus, poden sobrevenir complicacions potencialment greus.<\/p>\n<p>Tamb\u00e9 es poden produir dislocacions de les articulacions i artritis preco\u00e7. La pell fr\u00e0gil pot patir cicatrius prominents, o el tancament de les ferides quir\u00fargiques pot ser dif\u00edcil perqu\u00e8 les sutures tendeixen a esgarrapar el teixit fr\u00e0gil.<\/p>\n<p>Les persones amb EDS vascular corren el risc de patir ruptures dels vasos sanguinis principals, que poden ser fins i tot mortals. Certs \u00f2rgans, com l&#8217;\u00fater i els intestins, tamb\u00e9 poden patir ruptures. L&#8217;embar\u00e0s pot augmentar el risc de ruptura de l&#8217;\u00fater, i la fragilitat dels teixits materns pot complicar l&#8217;episiotomia o la ces\u00e0ria. Pot haver-hi hemorr\u00e0gia prenatal, perinatal i postnatal.<\/p>\n<p>Apareixen complicacions quir\u00fargiques a causa de la fragilitat dels teixits profunds. S\u00f3n freq\u00fcents els vessaments sinovials lleus, els esguin\u00e7os i les luxacions. Altres complicacions potencialment greus s\u00f3n les f\u00edstules arteriovenoses, la ruptura de v\u00edsceres i el pneumot\u00f2rax o hemopneumot\u00f2rax.<\/p>\n<p style=\"text-align: justify;\"><strong>Segons el m\u00e8tode sanitari Filum System<sup>\u00ae<\/sup>:<\/strong><\/p>\n<p style=\"text-align: justify;\">La SNCV en l&#8217;EDS \u00e9s el resultat de l&#8217;elongaci\u00f3 del component vertebral que tracciona el SNC amb la medul\u00b7la espinal, Figura 1.<\/p>\n<div align=\"center\">\n<p><a href=\"http:\/\/institutchiaribcn.com\/it\/wp-content\/uploads\/2024\/11\/spine-eds.jpg\"><img decoding=\"async\" class=\"aligncenter wp-image-9479 size-large img-responsive\" src=\"http:\/\/institutchiaribcn.com\/it\/wp-content\/uploads\/2024\/11\/spine-eds.jpg\" alt=\"spine-eds\" width=\"500\" height=\"auto\" \/><\/a><\/p>\n<p><em>Figura 1. Columna cervical normal i amb EDS, on s&#8217;observa la for\u00e7a d&#8217;elongaci\u00f3 sobre la columna cervical en negre i la for\u00e7a resultant en la medul\u00b7la espinal en blanc amb el resultat del descens de les am\u00edgdales cerebel\u00b7loses CT.<\/em><\/p>\n<\/div>\n<p style=\"text-align: justify;\">Recentment, en estudis histol\u00f2gics sobre l&#8217;EDS, el Filum terminale s&#8217;observa paradoxalment m\u00e9s r\u00edgid i inel\u00e0stic del normal (Klinge 2022). Segons els criteris del FS\u00ae, existeix la possibilitat que el Filum terminale en l&#8217;EDS, sotm\u00e8s a la tracci\u00f3 constant generada per l&#8217;elongaci\u00f3 de la columna vertebral, perdi l&#8217;elasticitat, incloent-hi l&#8217;augmentada per l&#8217;EDS, Figura 2<\/p>\n<div align=\"center\">\n<p><a href=\"http:\/\/institutchiaribcn.com\/it\/wp-content\/uploads\/2024\/11\/eds-icseb-sacrum.jpg\"><img decoding=\"async\" class=\"size-full wp-image-9480 aligncenter img-responsive\" src=\"http:\/\/institutchiaribcn.com\/it\/wp-content\/uploads\/2024\/11\/eds-icseb-sacrum.jpg\" alt=\"eds-icseb-sacrum\" width=\"500\" height=\"auto\" \/><\/a><\/p>\n<p><em>Figura 2. &#8211; Columna lumbar normal a l&#8217;esquerra. A la dreta amb EDS, fletxes verdes: for\u00e7a d&#8217;elongaci\u00f3 de la columna vertebral lumbar en l&#8217;EDS; fletxes blaves: elasticitat augmentada del FT; fletxa vermella en con de la medul\u00b7la, resultant de les dues anteriors. Quedant un FT allargat i inel\u00e0stic.<\/em><\/p>\n<\/div>\n<p style=\"text-align: justify;\">Segons criteris actuals alarmistes, els pacients amb EDS poden experimentar complicacions neurol\u00f2giques espinals, incloent-hi s\u00edmptomes cervicomedulars que sorgeixen de la inestabilitat\/hipermobilitat craniocervical i\/o cervical, aix\u00ed com la s\u00edndrome de la medul\u00b7la ancorada o medul\u00b7la ancorada oculta. Per\u00f2 un rep\u00e0s de la bibliografia constata que no hi ha casos rellevants de gravetat que els justifiquin.<\/p>\n<p>Per casu\u00edstica pr\u00f2pia, en canvi, a l&#8217;ICSEB tenim s\u00e8ries de pacients amb S\u00edndrome d&#8217;Ehlers-Danlos, compatibles amb la s\u00edndrome Neuro-cranio-vertebral i la Malaltia del Filum.<\/p>\n<p>\u00c9s per aquesta ra\u00f3, a partir dels nostres estudis sobre aquest tema, que considerem que la simptomatologia que altres autors atribueixen a una inestabilitat cranio-cervical i\/o atlanto-axo\u00efdal en casos afectats d&#8217;EDS no es pot relacionar amb aquest mecanisme, sin\u00f3 que reflecteix m\u00e9s probablement una S\u00edndrome Neuro-cranio-vertebral no diagnosticada.<\/p>\n<p>&nbsp;<\/p>\n<hr \/>\n<h2 style=\"text-align: justify;\"><strong>Tractaments <\/strong><\/h2>\n<p style=\"text-align: justify;\">Per a la S\u00edndrome d&#8217;Ehlers-Danlos s&#8217;apliquen sovint tractaments conservadors i simptom\u00e0tics \u2014donat que actualment no es coneix un tractament efica\u00e7 per a la correcci\u00f3 del teixit conjuntiu\u2014 com ara els seg\u00fcents:<\/p>\n<p style=\"text-align: justify;\">&#8211; Ter\u00e0pia del dolor, control de la pressi\u00f3 arterial, fisioter\u00e0pia per enfortir els m\u00fasculs i estabilitzar les articulacions.<\/p>\n<p>&#8211; Cirurgia per reparar les articulacions danyades per dislocacions repetides o per reparar zones lesionades en vasos sanguinis i \u00f2rgans.<\/p>\n<p style=\"text-align: justify;\">Tamb\u00e9 es procedeix a un <strong>tractament quir\u00fargic<\/strong> \u2014en el cas de subluxacions de les articulacions\u2014, com s\u00f3n:<\/p>\n<p>&nbsp;<\/p>\n<ul style=\"text-align: justify;\">\n<li>&#8211; Estabilitzaci\u00f3 articular i procediments d&#8217;alliberament de nervis espec\u00edfics, que poden donar alleugeriment simptom\u00e0tic quan fallen les mesures conservadores.<\/li>\n<li>&#8211; Hi ha una marcada tend\u00e8ncia en la pr\u00e0ctica cl\u00ednica actual a considerar l&#8217;EDS com una causa freq\u00fcent de luxaci\u00f3 vertebral cervical, amb el conseg\u00fcent risc neurol\u00f2gic i vital; per tant, s&#8217;indiquen tractaments quir\u00fargics de consolidaci\u00f3 artrod\u00e8sica de la columna cervical, amb un gran desplegament d&#8217;osteos\u00edntesi. Segons la casu\u00edstica bibliogr\u00e0fica, aquests tractaments no estan justificats.<\/li>\n<\/ul>\n<p style=\"text-align: justify;\"><strong>L&#8217;EDS segons el Filum System<sup>\u00ae<\/sup><\/strong><\/p>\n<p style=\"text-align: justify;\">Davant les aparents evid\u00e8ncies a la nostra casu\u00edstica en observar manifestacions cranio-vertebrals o neurol\u00f2giques m\u00faltiples en els pacients amb una s\u00edndrome d&#8217;Ehlers-Danlos; en aquests casos \u00e9s recomanable procedir a una cerca de caracter\u00edstiques cl\u00edniques i d&#8217;imatge, suggeridores d&#8217;una tracci\u00f3 caudal an\u00f2mala, s\u00edndrome Neuro-cranio-vertebral \u2014en paral\u00b7lel a les proves que ajudaran a evidenciar una inestabilitat cranio-cervical\u2014.<\/p>\n<p>Un cop confirmada l&#8217;associaci\u00f3 de l&#8217;EDS amb el diagn\u00f2stic de S\u00edndrome Neuro-cranio-vertebral, s&#8217;ha de valorar la indicaci\u00f3 de Secci\u00f3 del Filum terminale del FS\u00ae com a tractament per a aquesta \u00faltima.<\/p>\n<p>Els resultats de la cirurgia de secci\u00f3 del Filum terminale en aquests pacients s\u00f3n aparentment equiparables als del grup general de pacients quir\u00fargics afectes de la s\u00edndrome Neuro-cranio-vertebral.<\/p>\n<p>&nbsp;<\/p>\n<hr \/>\n<h2 style=\"text-align: justify;\"><strong>Secci\u00f3 del Filum terminale<\/strong><\/h2>\n<div class=\"boxAdvantages barAdvantages\">\n<div align=\"center\">\n<h3><strong>Avantatges<\/strong><\/h3>\n<\/div>\n<ul style=\"text-align: justify;\">\n<li>1. Elimina la causa de la S\u00edndrome Neuro-cranio-vertebral associada a la s\u00edndrome d&#8217;Ehlers-Danlos, en eliminar la tracci\u00f3 de la columna vertebral que sotmet la medul\u00b7la espinal.<\/li>\n<li>2. Amb la t\u00e8cnica quir\u00fargica m\u00ednimament invasiva pr\u00f2pia de l&#8217;ICSEB, el temps quir\u00fargic \u00e9s de 40 minuts. Poques hores d&#8217;ingr\u00e9s, que pot ser ambulatori. Anest\u00e8sia local. Postoperatori curt i sense limitacions. Sense transfusions de sang.<\/li>\n<li>3. La seva aplicaci\u00f3 suposa nul\u00b7la mortalitat, sense seq\u00fceles ni complicacions rellevants.<\/li>\n<li>4. Millora els s\u00edmptomes i atura el deteriorament de les lesions i s\u00edmptomes corresponents a la SNCV.<\/li>\n<\/ul>\n<\/div>\n<p>&nbsp;<\/p>\n<hr \/>\n<h2 style=\"text-align: justify;\"><strong>Resultats<\/strong><\/h2>\n<p style=\"text-align: justify;\">Amb el diagn\u00f2stic i tractament apropiat amb el FS\u00ae, els resultats s\u00f3n equiparables als obtinguts en la MF i la SNCV per altres causes.<\/p>\n<p>&nbsp;<\/p>\n<hr \/>\n<h2 style=\"text-align: justify;\"><strong>Refer\u00e8ncies Bibliogr\u00e0fiques<\/strong><\/h2>\n<p>&nbsp;<\/p>\n<ol>\n<li style=\"font-size: 16px; font-weight: 300; text-align: justify;\">Awasthy and Chand, 2008<\/li>\n<li style=\"font-size: 16px; font-weight: 300; text-align: justify;\">Halko et al., 1995<\/li>\n<li style=\"font-size: 16px; font-weight: 300; text-align: justify;\">Klinge Petra M. et al. 2022<\/li>\n<li style=\"font-size: 16px; font-weight: 300; text-align: justify;\">Man\u0301czak and Gasik et al., 2017<\/li>\n<li style=\"font-size: 16px; font-weight: 300; text-align: justify;\">Nagashima et al., 1981.<\/li>\n<li style=\"font-size: 16px; font-weight: 300; text-align: justify;\">Royo Salvador 1996a y b, Royo Salvador et al., 2005.<\/li>\n<li style=\"font-size: 16px; font-weight: 300; text-align: justify;\">Royo Salvador et al., <a href=\"https:\/\/institutchiaribcn.com\/the-filum-disease-and-the-neuro-cranio-vertebral-syndrome-definition-clinical-picture-and-imaging-features\/\">The Filum disease and the Neuro-cranio-vertebral Syndrome: definition, clinical picture and imaging features<\/a>. 2020.<\/li>\n<li style=\"font-size: 16px; font-weight: 300; text-align: justify;\">Royo Salvador et al., Neuro-cranio-vertebral syndrome associated with Ehlers-Danlos syndrome: diagnosis and treatment, 2022.<\/li>\n<\/ol>\n","protected":false},"featured_media":1578,"template":"","class_list":["post-15163","enfermedades","type-enfermedades","status-publish","has-post-thumbnail","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.1.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>S\u00edndrome de Ehlers\u2011Danlos | Institut Chiari Barcelona<\/title>\n<meta name=\"description\" content=\"A s\u00edndrome de Ehlers-Danlos \u00e9 uma doen\u00e7a heredit\u00e1ria que causa fragilidade tecidular, hipermobilidade e dor. 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