Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey

作者：Juan González‐Moreno, Angela Dispenzieri, Martha Grogan, Teresa Coelho, Ivailo Tournev, Márcia Waddington‐Cruz, Jonas Wixner, Igor Diemberger, Pablo García‐Pavía, Doug Chapman, Pritam Gupta, Oliver Glass, Leslie Amass, the THAOS investigators, Violaine Planté‐Bordeneuve, Isabel Conceição, Eun‐Seok Jeon, Mathew S. Maurer, José González‐Costello, Olivier Lairez, Mitsuharu Ueda, Arnt V. Kristen, Yoshiki Sekijima, Brian Drachman, David Slosky, Anna Hüsing‐Kabar, Maria Alejandra Gonzalez Duarte Briseno, Miriam Freimer, Marco Luigetti, Daniel J. Lenihan, Michael Polydefkis, Mazen Hanna, Hans Nienhuis, Stephen S. Gottlieb, José Nativi Nicolau, Jocelyn Inamo, Michele Emdin, Olga Azevedo, Robert Brunkhorst, Edward J. Miller, Alberta L. Warner, Fábio Barroso, Rayomand Press, Scott L. Hummel, Francisco Muñoz Beamud, Anna Mazzeo, Luca Gentile, Soon-Chai Low, Sorina Bădeliță, Dianna Quan, James M. Tauras, Saša Živković, Johan Van Cleemput, H. Moelgaard, Josep Maria Campistol Plana, Roberto Fernández‐Torrón, Nitasha Sarswat, Srinivas Murali, Christopher R. Mueller, Nowell M. Fine, Felix Darstein, David Adams, Amir Dori, Laura Obici, Calogero Lino Cirami, Sonoko Misawa, Sanjiv J. Shah, Carsten Tschöepe, Lucía Galán Dávila, Jeeyoung Oh, Yeşim Parman, Tessa Marburger, Jeffrey Ralph · 发表于：Cardiology and Therapy · 年份：2023 · DOI：10.1007/s40119-023-00344-3 · 被引用次数：24 · 研究领域：Amyloidosis: Diagnosis, Treatment, Outcomes、Parathyroid Disorders and Treatments、Dermatological and Skeletal Disorders

INTRODUCTION: Transthyretin amyloidosis (ATTR amyloidosis) is primarily associated with a cardiac or neurologic phenotype, but a mixed phenotype is increasingly described. METHODS: This study describes the mixed phenotype cohort in the Transthyretin Amyloidosis Outcomes Survey (THAOS). THAOS is an ongoing, longitudinal, observational survey of patients with ATTR amyloidosis, including both hereditary (ATTRv) and wild-type disease, and asymptomatic carriers of pathogenic transthyretin variants. Baseline characteristics of patients with a mixed phenotype (at enrollment or reclassified during follow-up) are described (data cutoff: January 4, 2022). RESULTS: Approximately one-third of symptomatic patients (n = 1185/3542; 33.5%) were classified at enrollment or follow-up as mixed phenotype (median age, 66.5 years). Of those, 344 (29.0%) were reclassified to mixed phenotype within a median 1-2 years of follow-up. Most patients with mixed phenotype had ATTRv amyloidosis (75.7%). The most frequent genotypes were V30M (38.9%) and wild type (24.3%). CONCLUSIONS: These THAOS data represent the largest analysis of a real-world mixed phenotype ATTR amyloidosis population to date and suggest that a mixed phenotype may be more prevalent than previously thought. Patients may also migrate from a primarily neurologic or cardiologic presentation to a mixed phenotype over time. These data reinforce the need for multidisciplinary evaluation at initial assessment and follow-up of all patients with...