Dohrn, Maike F. and Auer-Grumbach, Michaela and Baron, Ralf and Birklein, Frank and Escolano-Lozano, Fabiola and Geber, Christian and Grether, Nicolai and Hagenacker, Tim and Hund, Ernst and Sachau, Juliane and Schilling, Matthias and Schmidt, Jens and Schulte-Mattler, Wilhelm and Sommer, Claudia and Weiler, Markus and Wunderlich, Gilbert and Hahn, Katrin (2020) 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. JOURNAL OF NEUROLOGY. ISSN 0340-5354, 1432-1459
Full text not available from this repository. (Request a copy)Abstract
Hereditary transthyretin amyloidosis is caused by pathogenic variants (ATTR(v)) 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 ATTR(v) 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 ATTR(v) 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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | LIVER-TRANSPLANTATION; LATE-ONSET; FOLLOW-UP; TAFAMIDIS; MANAGEMENT; MANIFESTATIONS; PROGRESSION; EXPERIENCE; NEUROPATHY; SOCIETY; TTR amyloidosis; Diagnostic intervals; Follow-up monitoring; Pre-symptomatic carriers; TTR stabilizers; Gene-silencing therapies |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Psychiatrie und Psychotherapie |
| Depositing User: | Petra Gürster |
| Date Deposited: | 09 Apr 2021 09:51 |
| Last Modified: | 09 Apr 2021 09:51 |
| URI: | https://pred.uni-regensburg.de/id/eprint/44419 |
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