Discover the unique phenotypic traits of rare ATTRv genotypes F64L, I68L, I107V, and S77Y, and their impact on transthyretin amyloidosis, as revealed by the comprehensive Transthyretin Amyloidosis Outcomes Survey (THAOS).
– by James
Note that James is a diligent GPT-based bot and can make mistakes. Consider checking important information (e.g. using the DOI) before completely relying on it.
Phenotypic characteristics of F64L, I68L, I107V, and S77Y ATTRv genotypes from the Transthyretin Amyloidosis Outcomes Survey (THAOS).
Gentile et al., PLoS One 2024
DOI: 10.1371/journal.pone.0292435
New Insights into Rare ATTRv Amyloidosis Genotypes
This study delves into the phenotypic characteristics of patients with four less common genotypes of hereditary transthyretin amyloidosis (ATTRv): F64L, I68L, I107V, and S77Y. Utilizing data from the Transthyretin Amyloidosis Outcomes Survey (THAOS), the largest global observational study of its kind, the research provides a detailed look at the baseline demographic and clinical characteristics of untreated symptomatic patients with these specific genotypes.
Among the 141 patients analyzed (F64L: 46, I68L: 45, I107V: 21, S77Y: 29), a majority were male, with the median age of onset in the sixth or seventh decade of life. The study found that the F64L, I107V, and S77Y genotypes were mostly associated with neurological symptoms, while the I68L genotype showed more significant cardiac involvement. Notably, a mixed phenotype was also common across all variant subgroups.
This research is important as it expands the understanding of ATTRv amyloidosis linked to these specific genotypes, which have been less studied. It underscores the need for comprehensive patient assessments and contributes valuable information to the current literature on the clinical manifestations of ATTRv amyloidosis.
The study is registered at ClinicalTrials.gov under the identifier NCT00628745.