| アブストラクト | INTRODUCTION: Timely diagnosis and treatment are essential for improving outcomes and quality of life in patients with transthyretin (ATTR) amyloidosis. Early multisystem manifestations are often unrecognized, leading to diagnostic delays and misdiagnosis. Large-scale, multicountry, observational studies are needed to better characterize the real-world trajectory of these patients. METHODS: OverTTuRe, an ANTHOLOGY study, is a retrospective, observational, descriptive, longitudinal, multicountry study using secondary data from claims databases, electronic health records, and healthcare registries. The primary aim of this analysis was to characterize baseline characteristics, early clinical manifestations, and outcomes in patients with hereditary transthyretin (ATTRv) amyloidosis from the United States (US), United Kingdom (UK), Japan, Denmark, and Sweden. RESULTS: Of 1502 patients identified, the predominant phenotype across countries was ATTRv amyloidosis with polyneuropathy (ATTRv-PN 51.3-63.7%); however, many patients had ATTRv with mixed phenotype (ATTRv mixed 36.3-48.8%). Compared to patients with ATTRv mixed, patients with ATTRv-PN were younger, and a higher proportion were female (36.6-64.1% vs. 19.3-56.4%). Median (interquartile range) time from any initial cardiac or noncardiac manifestation to diagnosis varied across countries; time from any noncardiac manifestation to diagnosis was longest for both phenotypes in the US (ATTRv-PN 2.9 [1.0-4.0] years; ATTRv mixed 2.4 [0.8-3.7] years). Following diagnosis, treatment was not available for most patients. Mortality (ATTRv-PN 14.6-36.2%; ATTRv mixed 21.0-73.0%) and hospitalization (ATTRv-PN 23.5-66.2%; ATTRv mixed 20.8-70.5%) risk varied across countries in the 5 years following diagnosis. Pre- and post-diagnosis healthcare resource utilization was high for both phenotypes. CONCLUSIONS: These findings highlight the heterogeneity of clinical manifestations and outcomes of ATTRv amyloidosis across phenotypes and countries. Patients frequently experience diagnostic delays and numerous healthcare interactions. Elevated clinical suspicion to facilitate earlier diagnosis, together with a multidisciplinary care approach and timely access to targeted therapies, is needed to improve outcomes. TRIAL REGISTRATION: ClinicalTrials.gov identifier NCT06355934. |
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| 投稿者 | Alexander, Kevin M; Kohsaka, Shun; Poulsen, Steen Hvitfeldt; Terkelsen, Astrid J; Smith, J Gustav; Sundstrom, Johan; Wright, Jason; Jarbrink, Krister; Bhimjiyani, Arti Gauvri; Davis, Laura; Matsue, Yuya; Anderson, Lisa J; Pilebro, Bjorn |
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| 組織名 | Stanford Amyloid Center, Stanford University School of Medicine, 300 Pasteur;Drive, Rm A260, Stanford, CA, 94305, USA. kevalex@stanford.edu.;Division of Cardiovascular Medicine, Stanford University School of Medicine,;Stanford, CA, USA. kevalex@stanford.edu.;Department of Cardiology, Keio University School of Medicine, Tokyo, Japan.;Department of Health Data Science, Yokohama City University Graduate School of;Data Science, Yokohama, Japan.;Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark.;Department of Neurology, Aarhus University Hospital and Aarhus University,;Aarhus, Denmark.;Department of Cardiology and Wallenberg Center for Molecular Medicine, Clinical;Sciences, Lund University and Skane University Hospital, Lund, Sweden.;The Wallenberg Laboratory/Department of Molecular and Clinical Medicine,;Institute of Medicine and Science for Life Laboratory, Gothenburg University and;Sahlgrenska University Hospital, Gothenburg, Sweden.;Department of Medical Sciences, Uppsala University, Uppsala, Sweden.;The George Institute for Global Health, University of New South Wales, Sydney,;Australia.;Global Medical Affairs, BioPharmaceuticals Medical, AstraZeneca, Wilmington, DE,;USA.;Cardiovascular, Renal and Metabolism Evidence, BioPharmaceuticals Medical,;AstraZeneca, Gothenburg, Sweden.;Real World Data Science, BioPharmaceuticals Medical, AstraZeneca, Mississauga,;Canada.;Department of Cardiovascular Biology and Medicine, Juntendo University Graduate;School of Medicine, Tokyo, Japan.;St George's University Hospitals NHS Foundation Trust, and City St George's;University of London, London, UK.;Heart Centre, Cardiology, Department of Public Health and Clinical Medicine, Umea;University, Umea, Sweden. |
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