Why carry out this study?

Transthyretin amyloidosis is a heterogeneous disease caused by mutations in the transthyretin (TTR) gene (ATTRv amyloidosis) or the aggregation of wild-type TTR (ATTRwt amyloidosis).

In Spain there are two large endemic foci of ATTRv amyloidosis (Majorca and Huelva), and additional cases occur across the country; however, these data may be incomplete, as there is no centralized patient registry.

This study was carried out to gain a deeper understanding of the clinical profile of patients with ATTR amyloidosis in Spain.

What was learned from the study?

Over half of the patients with ATTR amyloidosis enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS) in Spain were from non-endemic sites, suggesting wide dispersion of the disease across the country.

Furthermore, results of this analysis highlight the multisystemic nature and phenotypic heterogeneity associated with ATTR amyloidosis in Spain and the importance of a comprehensive multidisciplinary approach for all patients with ATTR amyloidosis.