Transthyretin-Amyloidose (ATTR-Amyloidose): Empfehlungen zum Management in Deutschland und Österreich

Zusammenfassung

Die Transthyretin-Amyloidose (ATTR-Amyloidose) ist eine seltene, rasch verlaufende neurodegenerative Erkrankung, verursacht durch Mutationen im Transthyretin-Gen. Aufgrund der Seltenheit ist sie wenig bekannt mit der Folge, dass die Diagnose in vielen Fällen nicht oder für eine effektive Therapie zu spät gestellt wird. Therapeutisch steht seit Anfang der 1990er-Jahre die Lebertransplantation zur Verfügung, seit 2011 der oral einzunehmende Transthyretinstabilisator Tafamidis. Weitere Substanzen sind in der klinischen Prüfung oder stehen vor der Zulassung. Hierzu zählen die gentherapeutischen Substanzen Inotersen und Patisiran, die auf dem Boden der RNA-Interferenz wirken, für die Behandlung der Polyneuropathie und Tafamidis zur Behandlung der Kardiomyopathie bei ATTR-Amyloidosen. Die vorliegende Arbeit deutschsprachiger Experten gibt Empfehlungen zu Diagnostik, Management und Therapie von ATTR-Amyloidosen und soll helfen, diese erbliche, heute aber gut behandelbare, Erkrankung einem weiteren Kreis von Ärzten bekannt zu machen.

Abstract

Transthyretin amyloidosis (ATTR amyloidosis) is a rare and rapidly progressive disease caused by mutations within the transthyretin gene. Because of its rarity, the disease is little-known with the result of a frequently missed diagnosis and, therefore, appropriate therapy often being delayed. Liver transplantation has become a treatment option since the mid 90 s. In 2011, an oral drug stabilizing transthyretin and, subsequently, stopping amyloid production has been introduced. Additional substances are currently being studied, some of which are awaiting approval. The present paper written by German speaking experts gives recommendations for diagnosis, management and therapy of ATTR amyloidosis and is intended to increase awareness for this hereditary but treatable disease within the medical community.

Schlüsselwörter

Transthyretin - Amyloidose - ATTR - Therapie - Polyneuropathie

Keywords

amyloidosis - transthyretin - polyneuropathy - heart - therapy

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