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Clinical Practice and Diagnostic Trends in Hereditary Transthyretin Amyloidosis: A 25-Year Observational Study.

Medicina (Kaunas, Lithuania) - 7 May 2026

Sumi Kaori, Masuda Teruaki, Kondo Hidekazu, Saito Shotaro, Aso Yasuhiro, Hazama Yusuke, Obayashi Konen, Nomura Toshiya, Ueda Mitsuharu, Takahashi Naohiko, Kimura Noriyuki

Abstract excerpt

Background and Objectives: Hereditary transthyretin amyloidosis (ATTRv), a multisystemic disorder caused by transthyretin (TTR) gene mutations, exhibits phenotypic heterogeneity that can hamper recognition in non-endemic areas. Here, we investigated the clinical practice of ATTRv amyloidosis over an extended period and examined the challenges currently faced in non-endemic regions. Materials and Methods: We...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42195160
DOI: 10.3390/medicina62050907
PMCID: PMC13208621

Genes

TTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Clinical Practice and Diagnostic Trends in Hereditary Transthyretin Amyloidosis: A 25-Year Observational Study.PMID 42195160Read ↗

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