Amyloidose in der Pneumologie

Zusammenfassung

Im pneumologischen Fachgebiet ist die Amyloidose eine seltene Krankheitsentität. Wahrscheinlich gibt es jedoch eine relevante Dunkelziffer an nicht diagnostizierten Fällen. Nach wie vor wird diese Erkrankung kaum ins differenzialdiagnostische Kalkül bei der Abklärung unklarer respiratorischer Beschwerden und bildmorphologischer Befunde mit einbezogen. Vielmehr handelt es sich bei den meisten Fällen um Zufallsdiagnosen, in der Regel erfolgt die Diagnosestellung erst durch den Pathologen anhand einer Gewebeprobe. Nur wenn die mannigfaltigen Manifestationsformen dem Kliniker bekannt sind, wird die Amyloidose im Einzelfall in der Differenzialdiagnose Berücksichtigung finden. Bei Verdacht auf das Vorliegen einer Amyloidose ist der zielführende diagnostische Schritt die Durchführung einer Gewebebiopsie. Wird die Diagnose in der Kongorotfärbung bestätigt, ist eine Subtypisierung des Amyloidproteins erforderlich, um nach möglichen behandelbaren Grunderkrankungen suchen zu können und die Therapie zu planen. Die Klassifikation der Amyloidosen erfolgt anhand des detektierten Amyloidproteins, klinisch werden hereditäre von erworbenen und lokale von generalisierten Formen abgegrenzt. Neben der Behandlung einer eventuell vorliegenden Grunderkrankung stehen für die generalisierten Amyloidosen systemische Therapien zur Verfügung. Lokale Amyloidosemanifestationen können oft gut mit spezifischen Lokalmaßnahmen behandelt werden. In dieser Übersichtsarbeit soll ein Überblick über die Pathophysiologie, die Klassifikation der Amyloidose-Unterformen, sowie deren Diagnostik und Therapie ermöglicht werden. Ein spezielles Augenmerk soll dabei auf die besonderen Manifestationen aus dem pneumologischen Fachgebiet und deren spezifische Therapiemöglichkeiten gelenkt werden.

Abstract

Amyloidosis is a rare disorder within the field of pneumology, however, it is estimated that there are a relevant number of unreported cases. In routine clinical practice, the disease is seldom considered in the diagnostic work-up of unclear respiratory symptoms and radiological findings. For amyloidosis to be considered as a differential diagnosis, the clinician must be aware of the broad variety of its clinical manifestations. In cases where amyloidosis is suspected, it is important to obtain an early tissue biopsy. If the diagnosis can be confirmed by Congo red staining, further subtyping of the amyloid protein is necessary in order to identify a treatable cause of the disease. The amyloidoses are classified according to the type of amyloid protein, with clinical subclassifications distinguishing hereditary from acquired forms and localised from generalised manifestations. Apart from causal therapy of the primary disease, the treatment of generalised amyloidosis includes specific systemic therapy. The majority of localised forms are treated with specific local interventions showing good long-term results. This review outlines the pathophysiology, classification, diagnostic pathways and therapeutic modalities in amyloidosis. Furthermore, typical manifestations of amyloidosis of the lung and the specific treatment options are discussed.

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