Angeborene Bindegewebserkrankungen mit skelettalem Phänotyp

Dieser Beitrag beschäftigt sich mit den kongenitalen Bindegewebserkrankungen Osteogenesis imperfecta, Ehlers-Danlos- und Marfan-Syndrom. Für diese Entitäten werden die derzeit aktuellen Klassifikationen, diagnostischen Möglichkeiten, Abgrenzungen gegenüber phänotypisch ähnlichen Krankheitsbildern sowie konservative und operative Therapieoptionen dargestellt.

Kernaussagen

Wie in der vorliegenden Übersicht dargelegt repräsentieren die Osteogenesis imperfecta (OI), das Ehlers-Danlos-Syndrom (EDS) und das Marfan-Syndrom klassische angeborene Bindegewebserkrankungen mit teilweise überlappenden phänotypischen Merkmalen. Sie gehören alle zu den seltenen Erkrankungen und müssen von einer Reihe ebenfalls seltener angeborener Entitäten mit ähnlicher Symptomatik abgegrenzt werden. Andererseits haben sie klinisch in der Differenzialdiagnostik häufiger vorkommender Befunde bzw. Normvarianten nicht unerhebliche Bedeutung ([Abb. 7]). Daher ist das Wissen um diese Erkrankungen für das orthopädisch-unfallchirurgische Fachgebiet von praktischer Relevanz.

Die rasch wachsenden Erkenntnisse zu den genetischen Ursachen und molekularen Grundlagen führten in den letzten Jahren zur Unterteilung in weitere Subtypen (wie bei OI und EDS) bzw. zur Einordnung in neue Erkrankungsgruppen mit verwandtem Pathomechanismus (wie beim Marfan-Syndrom). Die sich hieraus ergebenden Möglichkeiten und Erfordernisse einer differenziellen Diagnostik dieser angeborenen Bindegewebserkrankungen sind sehr komplex und erfordern, wie deren Therapie, eine interdisziplinäre Vorgehensweise. In begründeten Verdachtsfällen sollte daher für eine weiterführende Diagnostik, Koordination notwendiger Follow-up-Untersuchungen sowie spezifische therapeutische Maßnahmen ein darauf spezialisiertes Zentrum einbezogen werden.

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