Endoprothetische Versorgung von Patienten mit Skelettdysplasien

Zusammenfassung

Skelettdysplasien sind häufig assoziiert mit einem hohen Risiko für Gelenkschäden und Arthrose insbesondere der großen Gelenke. Ursache sind je nach Erkrankung in unterschiedlichem Ausmaß sowohl die unterliegenden Stoffwechselstörungen selbst als auch die assoziierten Deformierungen mit konsekutiv häufig unvorteilhafter biomechanischer Belastungssituation. Dadurch ergibt sich bei diesen Patienten regelhaft die Indikation für eine endoprothetische Versorgung und damit verbunden die Frage, ob und wie bzw. unter welchen Voraussetzungen eine solche sicher und nachhaltig durchgeführt werden kann. Wesentliche Herausforderungen in Abweichung von der sonstigen endoprothetischen Routineversorgung sind in diesem Kontext die regelhaft veränderten anatomischen und biomechanischen Verhältnisse, häufig mit Kleinwuchs und der Notwendigkeit entsprechend dimensionierter und ggf. auch anatomisch konfigurierter Implantate. Hinzu kommen erforderliche Überlegungen zu den jeweils geeigneten Möglichkeiten der knöchernen Verankerung vor dem Hintergrund der oftmals kompromittierten Knochenbiologie, verbunden mit der Frage nach perioperativen Verbesserungsmöglichkeiten. Regelhaft müssen dabei auch die Folgen und Implikationen aus früheren Interventionen mit berücksichtigt werden. Dabei gilt es, perspektivisch auch die individuell und erkrankungsspezifisch divergierenden Limitationen bzgl. der postoperativen Rehabilitation und prognostisch absehbare weitere Operationen frühzeitig in die Überlegungen mit einzubeziehen. Am Beispiel vergleichsweise häufiger Skelettdyslasien wie der Osteogenesis Imperfecta (OI), der Hyspophosphatasie (HPP) und der X-chromosomalen Hypophosphatasie (XLH) werden im Folgenden konkrete Überlegungen und Konzepte in diesem Zusammenhang dargestellt und diskutiert.

Abstract

Skeletal dysplasias are commonly associated with an increased risk for joint degeneration and osteoarthritis, particularly affecting the large, weight-bearing joints of the lower extremities. Depending on the specific condition, potential causes to varying extent include both, the underlying metabolic disorder which may directly interfere with joint health as well as unfavorable biomechanical loading due to deformities and particular individual aspects of mobilization and mobility. Consecutively, patients with skeletal dysplasias and their physicians are regularly facing debilitating osteoarthritis and the medical need to overcome associated pain and mobility issues by joint replacement surgery, inevitably raising questions if and how this can be safely and sustainably accomplished. Key challenges in this context beyond regular endoprosthetics consist of particular anatomical and biomechanical setting, frequently with short stature, requiring appropriately sized and sometimes individually shaped implants. In addition, the task of optimal implant fixation and retention in a setting of compromised bone quality and bone biology have to be addressed along with questions around potential supportive treatment strategies to improve bone stability and healing capacity perioperatively. This includes considerations around sequelae and implications resulting from previous medical and surgical interventions. Planning requires being mindful about foreseeable challenges regarding postoperative rehabilitation as well as forthcoming surgeries. Conclusively, these considerations and concepts will be illustrated and exemplified, referring to comparatively common skeletal dysplasias like osteogenesis imperfecta (OI), Hypophosphatasia (HPP) and X-linked hypophosphatemia (XLH).

Schlüsselwörter

Endoprothetik - Skelettdysplasie - Hypophosphatasie - X-chromosomale Hypophosphatämie - Osteogenesis Imperfecta

Key words

Skeletal Dysplasia - Joint Replacement Surgery - X-linked Hypophosphatemia - Hypophosphatasia - Osteogenesis Imperfecta

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