A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS)

作者：Luca Gentile, Teresa Coelho, Angela A. Dispenzieri, Isabel M. Conceição, Márcia Waddington‐Cruz, Arnt V. Kristen, Jonas Wixner, Igor Diemberger, Juan González‐Moreno, Eve Cariou, Mathew S. Maurer, Violaine Planté‐Bordeneuve, Pablo García‐Pavía, Ivailo Tournev, José González‐Costello, Alejandra González‐Duarte, Martha A. Grogan, Anna Teresa Mazzeo, Doug Chapman, Pritam Gupta, Oliver Glass, Leslie Amass, the THAOS investigators · 发表于：Orphanet Journal of Rare Diseases · 年份：2023 · DOI：10.1186/s13023-023-02962-5 · 被引用次数：79 · 研究领域：Amyloidosis: Diagnosis, Treatment, Outcomes、IgG4-Related and Inflammatory Diseases、Alzheimer's disease research and treatments

BACKGROUND: Transthyretin amyloidosis (ATTR amyloidosis) is a progressive, multisystemic, life-threatening disease resulting from the deposition of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in various tissues and organs. METHODS: Established in 2007, the Transthyretin Amyloidosis Outcomes Survey (THAOS) is the largest ongoing, global, longitudinal, observational study of patients with ATTR amyloidosis, including both hereditary and wild-type disease, and asymptomatic carriers of pathogenic TTR mutations. This analysis describes the baseline characteristics of symptomatic patients and asymptomatic gene carriers enrolled in THAOS since its inception in 2007 (data cutoff: August 1, 2022), providing a consolidated overview of 15-year data from the THAOS registry. RESULTS: This analysis included 4428 symptomatic patients and 1707 asymptomatic gene carriers. The majority of symptomatic patients were male (70.8%) with a mean (standard deviation [SD]) age at symptom onset of 56.6 (17.9) years. Compared with the 14-year analysis, V30M remained the most prevalent genotype in Europe (62.2%), South America (78.6%), and Japan (74.2%) and ATTRwt remained most common in North America (56.2%). Relative to the 14-year analysis, there was an increase of mixed phenotype (from 16.6 to 24.5%) and a reduction of predominantly cardiac phenotype (from 40.7 to 31.9%). The proportion of patients with predominantly neurologic phenotype remained stable (from 40.1 to 38.7%)....