RT Journal Article
T1 Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update.
A1 Dispenzieri, Angela
A1 Coelho, Teresa
A1 Conceição, Isabel
A1 Waddington-Cruz, Márcia
A1 Wixner, Jonas
A1 Kristen, Arnt V
A1 Rapezzi, Claudio
A1 Planté-Bordeneuve, Violaine
A1 Gonzalez-Moreno, Juan
A1 Maurer, Mathew S
A1 Grogan, Martha
A1 Chapman, Doug
A1 Amass, Leslie
A1 THAOS investigators, 
K1 Amyloidosis
K1 Cardiomyopathy
K1 Polyneuropathy
K1 Registry
K1 Transthyretin
AB Transthyretin amyloidosis (ATTR amyloidosis) is a rare, life-threatening disease caused by the accumulation of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in the heart, peripheral nerves, and other tissues and organs. Established in 2007, the Transthyretin Amyloidosis Outcomes Survey (THAOS) is the largest ongoing, global, longitudinal observational study of patients with ATTR amyloidosis, including both inherited and wild-type disease, and asymptomatic carriers of pathogenic TTR mutations. This descriptive analysis examines baseline characteristics of symptomatic patients and asymptomatic gene carriers enrolled in THAOS since its inception in 2007 (data cutoff: August 1, 2021). This analysis included 3779 symptomatic patients and 1830 asymptomatic gene carriers. Symptomatic patients were predominantly male (71.4%) and had a mean (standard deviation [SD]) age of symptom onset of 56.3 (17.8) years. Val30Met was the most common genotype in symptomatic patients in South America (80.9%), Europe (55.4%), and Asia (50.5%), and more patients had early- versus late-onset disease in these regions. The majority of symptomatic patients in North America (58.8%) had ATTRwt amyloidosis. The overall distribution of phenotypes in symptomatic patients was predominantly cardiac (40.7%), predominantly neurologic (40.1%), mixed (16.6%), and no phenotype (2.5%). In asymptomatic gene carriers, mean (SD) age at enrollment was 42.4 (15.7) years, 42.4% were male, and 73.2% carried the Val30Met mutation. This 14-year global overview of THAOS in over 5000 patients represents the largest analysis of ATTR amyloidosis to date and highlights the genotypic and phenotypic heterogeneity of the disease. gov Identifier: NCT00628745.
YR 2022
FD 2022-06-18
LK http://hdl.handle.net/10668/20339
UL http://hdl.handle.net/10668/20339
LA en
DS RISalud
RD Apr 9, 2025