ATTR-Amyloidose für den Handchirurgen – eine versteckte, behandelbare Systemerkrankung

Zusammenfassung

Es gibt deutliche Hinweise darauf, dass das Karpaltunnelsyndrom (CTS), insbesondere, wenn es bilateral, rezidivierend oder bei älteren Erwachsenen auftritt, häufig mit einer lebensgefährlichen Systemerkrankung, der Transthyretin (ATTR)-Amyloidose assoziiert ist. Es sollte daher als potenzielle Frühmanifestation der ATTR-Amyloidose erkannt werden und weitere Untersuchungen auf eine systemische ATTR-Amyloidose anstoßen. In diesem Artikel beleuchten wir die Bedeutung des CTS für die Amyloidose und weisen auf wichtige nächste Schritte in der Diagnostik hin, die bei Nachweis von Amyloid im Ligamentum carpi transversum unbedingt durchgeführt werden sollten. Diese beinhalten die histopathologische Subspezfizierung, die Untersuchung auf Leichtketten im Serum zum Ausschluss oder der raschen Behandlung einer AL-Amyloidose und insbesondere bei Symptomen einer Kardiomyopathie die Diagnostik einer kardialen Amyloidose sowie die genetische Testung bei Nachweis von ATTR-Amyloid. Zusammenfassend ist das Karpaltunnelsyndrom ein wichtiger erster Hinweis auf eine tödliche, aber behandelbare Systemerkrankung, die nicht übersehen werden sollte. Als Handchirurg sollte daher ein Augenmerk auf Patient:innen mit CTS gelegt werden und eine histopathologische Untersuchung des entnommenen Gewebes möglichst in die Routine integriert werden.

Abstract

There is strong evidence that carpal tunnel syndrome (CTS) – particularly when bilateral, recurrent or occurring in older adults – is frequently associated with a life-threatening systemic disease, transthyretin (ATTR) amyloidosis. It should, therefore, be recognised as a potential early manifestation of ATTR amyloidosis and prompt further investigations. In this article, we highlight the significance of CTS in the context of amyloidosis and emphasise the key diagnostic steps that should be taken when amyloid is detected in the transverse carpal ligament. These include histopathological subtyping, serum testing for light chains to rule out or enable rapid treatment of AL amyloidosis, and – especially in the presence of cardiomyopathic symptoms – diagnostic evaluation for cardiac amyloidosis as well as genetic testing in cases where ATTR amyloid is identified. In summary, carpal tunnel syndrome is an important early indication of a fatal yet treatable systemic disease that should not be overlooked. Hand surgeons should, therefore, pay particular attention to patients with CTS and, whenever possible, incorporate a histopathological examination of the excised tissue into routine practice.

Schlüsselwörter

ATTR-Amyloidose - ATTRwt - ATTRv - Karpaltunnelsyndrom - Pathologie

Keywords

ATTR amyloidosis - carpal tunnel syndrome - pathology

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