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Journal of Neurology
Published in: Journal of Neurology 10/2021

Open Access 01-10-2021 | Polyneuropathy | Review

Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature

Authors: Maike F. Dohrn, Michaela Auer-Grumbach, Ralf Baron, Frank Birklein, Fabiola Escolano-Lozano, Christian Geber, Nicolai Grether, Tim Hagenacker, Ernst Hund, Juliane Sachau, Matthias Schilling, Jens Schmidt, Wilhelm Schulte-Mattler, Claudia Sommer, Markus Weiler, Gilbert Wunderlich, Katrin Hahn

Published in: Journal of Neurology | Issue 10/2021

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Abstract

Hereditary transthyretin amyloidosis is caused by pathogenic variants (ATTRv) in the TTR gene. Alongside cardiac dysfunction, the disease typically manifests with a severely progressive sensorimotor and autonomic polyneuropathy. Three different drugs, tafamidis, patisiran, and inotersen, are approved in several countries, including the European Union and the United States of America. By stabilizing the TTR protein or degrading its mRNA, all types of treatment aim at preventing amyloid deposition and stopping the otherwise fatal course. Therefore, it is of utmost importance to recognize both onset and progression of neuropathy as early as possible. To establish recommendations for diagnostic and therapeutic procedures in the follow-up of both pre-symptomatic mutation carriers and patients with manifest ATTRv amyloidosis with polyneuropathy, German and Austrian experts elaborated a harmonized position. This paper is further based on a systematic review of the literature. Potential challenges in the early recognition of disease onset and progression are the clinical heterogeneity and the subjectivity of sensory and autonomic symptoms. Progression cannot be defined by a single test or score alone but has to be evaluated considering various disease aspects and their dynamics over time. The first-line therapy should be chosen based on individual symptom constellations and contra-indications. If symptoms worsen, this should promptly implicate to consider optimizing treatment. Due to the rareness and variability of ATTRv amyloidosis, the clinical course is most importantly directive in doubtful cases. Therefore, a systematic follow-up at an experienced center is crucial to identify progression and reassure patients and carriers.
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Metadata
Title
Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature
Authors
Maike F. Dohrn
Michaela Auer-Grumbach
Ralf Baron
Frank Birklein
Fabiola Escolano-Lozano
Christian Geber
Nicolai Grether
Tim Hagenacker
Ernst Hund
Juliane Sachau
Matthias Schilling
Jens Schmidt
Wilhelm Schulte-Mattler
Claudia Sommer
Markus Weiler
Gilbert Wunderlich
Katrin Hahn
Publication date
01-10-2021
Publisher
Springer Berlin Heidelberg
Published in
Journal of Neurology / Issue 10/2021
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-020-09962-6

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