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Article

A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carriers in Spain: the EMPATIa study.

Orphanet journal of rare diseases - 6 Sept 2024

Galán Dávila Lucía, Martinez Valle Fernando, Buades Reinés Juan, Gonzalez-Moreno Juan, Losada López Inés, Sevilla Teresa, Muñoz Beamud Francisco, Bárcena Llona José Eulalio, Romero Acebal Manuel, Setaro Francesca, Primiano Diana, Tarilonte Patricia

Abstract excerpt

BACKGROUND: Variant transthyretin amyloidosis (ATTRv) is a rare multisystemic disorder caused by mutations in the transthyretin (TTR) gene. The aim of the present work was to describe the clinical profile of asymptomatic carriers (AC) and Coutinho stage 1 ATTRv patients in Spain. METHODS: National, multicentre, cross-sectional study that included 86 AC and 19 patients diagnosed in the previous 12 months to...

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Identifiers

PMID: 39242501
DOI: 10.1186/s13023-024-03304-9
PMCID: PMC11378489

Genes

TTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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