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Erschienen in: DGNeurologie 5/2020

11.05.2020 | Polyneuropathie | Im Fokus

Hereditäre Transthyretinamyloidose (ATTRv-Amyloidose)

Neues zu Therapieoptionen und neurologische Empfehlungen zu Untersuchungsmanagement und -standards in Deutschland und Österreich

verfasst von: Prof. Dr. M. Schilling, M. Auer-Grumbach, R. Baron, F. Birklein, F. Escolano-Lozano, M. F. Dohrn, C. Geber, N. Grether, T. Hagenacker, K. Hahn, H. C. Lehmann, J. Sachau, J. Schmidt, W. Schulte-Mattler, C. Sommer, M. Weiler, E. Hund

Erschienen in: DGNeurologie | Ausgabe 5/2020

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Die hereditäre Transthyretinamyloidose (ATTRv-Amyloidose) ist eine autosomal-dominant vererbte Multiorganerkrankung, die in Abhängigkeit von der zugrunde liegenden Mutation überwiegend mit neurologischem oder kardiologischem Phänotyp symptomatisch wird. Darüber hinaus treten gastrointestinale und, in Mitteleuropa weniger häufig, nephrologische und ophthalmologische Manifestationen auf. Alle bekannten pathogenen Mutationen führen durch die neurotoxischen Effekte der aufgrund der Destabilisierung des TTR-Tetramers entstehenden Monomere und Ablagerung der Amyloidfibrillen in Nerven und Organen zu den Erkrankungssymptomen. Eine Zulassung für den Wirkstoff Tafamidis, der als Stabilisator der Tetramerstruktur des Transthyretinmoleküls wirkt („TTR stabilizer“), liegt seit 2011 in Deutschland und seit 2012 in Österreich vor. Neue Medikamente, die zu einer effektiven Reduktion der Synthese von Transthyretin führen (Patisiran und Inotersen, „TTR silencer“), sind seit August 2018 in Deutschland und in Österreich zugelassen. Entscheidend für die Vermeidung eines raschen fatalen Verlaufs der Erkrankung sind eine frühe Diagnosestellung und der schnellstmögliche Beginn einer spezifischen medikamentösen Therapie symptomatischer Träger pathogener TTR-Varianten. Die hier vorgelegten neurologischen Empfehlungen deutschsprachiger Experten sollen dazu beitragen, Patienten mit ATTRv-Amyloidose zu identifizieren und diesen sowie asymptomatischen Mutationsträgern in klinischen Zentren durch Teilnahme an interdisziplinären Untersuchungsprogrammen eine strukturierte Verlaufskontrolle und eine frühzeitige Therapie zu ermöglichen. …
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Metadaten
Titel
Hereditäre Transthyretinamyloidose (ATTRv-Amyloidose)
Neues zu Therapieoptionen und neurologische Empfehlungen zu Untersuchungsmanagement und -standards in Deutschland und Österreich
verfasst von
Prof. Dr. M. Schilling
M. Auer-Grumbach
R. Baron
F. Birklein
F. Escolano-Lozano
M. F. Dohrn
C. Geber
N. Grether
T. Hagenacker
K. Hahn
H. C. Lehmann
J. Sachau
J. Schmidt
W. Schulte-Mattler
C. Sommer
M. Weiler
E. Hund
Publikationsdatum
11.05.2020
Verlag
Springer Medizin
Erschienen in
DGNeurologie / Ausgabe 5/2020
Print ISSN: 2524-3446
Elektronische ISSN: 2524-3454
DOI
https://doi.org/10.1007/s42451-020-00184-8

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