{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,22]],"date-time":"2025-02-22T00:44:01Z","timestamp":1740185041702,"version":"3.37.3"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T00:00:00Z","timestamp":1692576000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T00:00:00Z","timestamp":1692576000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100008769","name":"Julius-Maximilians-Universit\u00e4t W\u00fcrzburg","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100008769","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orthop\u00e4die"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Zusammenfassung<\/jats:title><jats:sec>\n                <jats:title>Hintergrund<\/jats:title>\n                <jats:p>Bei der Fibrodysplasia ossificans progressiva (FOP) handelt es sich um eine sehr seltene, genetisch bedingte Erkrankung, ausgel\u00f6st durch eine \u201eGain-of-function\u201c-Mutation im <jats:italic>ACVR1<\/jats:italic>-Gen, welches den Typ-I-Bone-Morphogenetic-Protein(BMP)-Rezeptor ACVR1 (\u201eactivin\u00a0A\u00a0receptor type\u00a01\u201c)\u00a0\u2013 auch bekannt als ALK2 (\u201eactivin receptor-like kinase\u00a02\u201c) kodiert. Diese Mutation f\u00fchrt zum Auftreten und Fortschreiten heterotoper Ossifikationen (HO) im Weich- und Bindegewebe. Der HO gehen oft Episoden von Weichteilschwellungen, sogenannte Flare-ups voraus. Die f\u00fcr FOP charakteristischen Flare-ups k\u00f6nnen durch Traumata, Infektionen, Impfungen oder andere medizinische sowie chirurgische Eingriffe induziert werden oder spontan auftreten. Mit fortschreitendem Alter der Patient:innen kommt es bei den Betroffenen aufgrund zunehmender HO zu schwerwiegenden Bewegungseinschr\u00e4nkungen bis hin zur Bewegungsunf\u00e4higkeit, die mit einer verk\u00fcrzten Lebenserwartung einhergeht. Ein erstes charakteristisches klinisches Anzeichen f\u00fcr FOP ist die angeborene Fehlbildung der Gro\u00dfzehen [25] mit valgischer Achsabweichung, die bei fast allen Patient:innen auftritt. Um die Diagnose zu sichern, ist eine molekulargenetische Analyse des <jats:italic>ACVR1<\/jats:italic>-Gens m\u00f6glich.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Ziel der Empfehlungen<\/jats:title>\n                <jats:p>Ziel der vorliegenden Handlungsempfehlungen ist es, einen \u00dcberblick \u00fcber die notwendigen Voraussetzungen und Bedingungen f\u00fcr die Versorgung von Patient:innen mit FOP zu geben und durch eine bessere Verf\u00fcgbarkeit von Wissen insgesamt einen positiven Beitrag f\u00fcr Patient:innen mit FOP zu leisten. Um dies zu erreichen, werden relevante Aspekte bei der Versorgung der sehr seltenen Erkrankung FOP vorgestellt, von der initialen Diagnose bis zur Betreuung in der Regelversorgung, basierend auf dem Wissen der Autor:innen (deutsches FOP-Netzwerk) und den internationalen FOP Treatment Guidelines. Die hier vorgestellten Empfehlungen richten sich an alle Akteur:innen und Entscheidungstr\u00e4ger:innen im Gesundheitswesen und sollen dar\u00fcber hinaus der Information von Betroffenen und der \u00d6ffentlichkeit dienen.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s00132-023-04425-y","type":"journal-article","created":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T06:02:37Z","timestamp":1692597757000},"page":"924-930","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Empfehlungen zur Versorgung von Patient:innen mit FOP","Recommendations for the healthcare of patients with FOP"],"prefix":"10.1007","volume":"52","author":[{"given":"L.","family":"Seefried","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Banholzer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Grafe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"H\u00fcning","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Morhart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Oheim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.","family":"Semler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Siggelkow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Stockklausner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Hoyer-Kuhn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,8,21]]},"reference":[{"issue":"8","key":"4425_CR1","doi-asserted-by":"publisher","first-page":"1199","DOI":"10.1080\/14737167.2022.2115360","volume":"22","author":"M Al Mukaddam","year":"2022","unstructured":"Al Mukaddam\u00a0M et\u00a0al (2022) The impact of fibrodysplasia ossificans progressiva (FOP) on patients and their family members: results from an international burden of illness survey. 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Eingeladen wurden sachkundige Personen aus der Versorgung von Patient:innen mit FOP sowie Expert:innen im Bereich seltene Knochenerkrankungen und die Patient:innenorganisation FOP e.\u202fV. Unterst\u00fctzung f\u00fcr das Medical Writing wurde von der Ipsen Pharma GmbH gesponsored.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Interessenkonflikt"}}]}}