Mark H Rozenbaum1, Samuel Large2, Rahul Bhambri3, Michelle Stewart4, Jo Whelan5, Alexander van Doornewaard5, Noel Dasgupta6, Ahmad Masri7, Jose Nativi-Nicolau8. 1. Pfizer, Capelle a/d IJssel, The Netherlands. 2. Pfizer UK, Walton Oaks, UK. 3. Pfizer Inc., New York, NY, USA. 4. Pfizer Inc., Groton, CT, USA. 5. HEOR Ltd, Cardiff, UK. 6. Division of Cardiology and Department of Pathology, Indiana University School of Medicine, Indianapolis, IN, USA. 7. Division of Cardiovascular Medicine, Oregon Health and Science University, Portland, OR, USA. 8. University of Utah Health Sciences Center and Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA. jose.nativi-nicolau@hsc.utah.edu.
Abstract
INTRODUCTION: Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive, fatal and under-recognized disease. This targeted literature review assessed the extent and consequences of diagnostic delay and misdiagnosis in ATTR-CM. METHODS: The Embase database was searched together with proceedings of eight cardiology conferences to identify publications or abstracts on ATTR-CM. Outcomes of interest were time from symptom onset to diagnosis, rates of delayed diagnosis and misdiagnosis, and costs, healthcare resource use or clinical outcomes whilst undiagnosed/misdiagnosed. RESULTS: Twenty-three articles were included. Weighted means of reported mean and median diagnostic delays were 6.1 and 3.4 years for wild-type (ATTRwt-CM) and 5.7 and 2.6 years for hereditary (ATTRv-CM). Misdiagnosis occurred in 34-57% of patients when reported. Evaluation and misdiagnosis by multiple healthcare providers before receiving an ATTR-CM diagnosis was common, and there was evidence that patients undergo unnecessary or inappropriate evaluations or treatments while misdiagnosed. Diagnostic "red flags" were reported to be underused. Data on the consequences of delay for patients and health systems were sparse, but given the progressive nature of ATTR-CM, delay is likely to have adverse consequences. CONCLUSION: ATTR-CM patients commonly experience diagnostic delay and misdiagnosis. Efforts are required to provide timely diagnosis so that patients can benefit from earlier access to new disease-modifying therapies.
INTRODUCTION:Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive, fatal and under-recognized disease. This targeted literature review assessed the extent and consequences of diagnostic delay and misdiagnosis in ATTR-CM. METHODS: The Embase database was searched together with proceedings of eight cardiology conferences to identify publications or abstracts on ATTR-CM. Outcomes of interest were time from symptom onset to diagnosis, rates of delayed diagnosis and misdiagnosis, and costs, healthcare resource use or clinical outcomes whilst undiagnosed/misdiagnosed. RESULTS: Twenty-three articles were included. Weighted means of reported mean and median diagnostic delays were 6.1 and 3.4 years for wild-type (ATTRwt-CM) and 5.7 and 2.6 years for hereditary (ATTRv-CM). Misdiagnosis occurred in 34-57% of patients when reported. Evaluation and misdiagnosis by multiple healthcare providers before receiving an ATTR-CM diagnosis was common, and there was evidence that patients undergo unnecessary or inappropriate evaluations or treatments while misdiagnosed. Diagnostic "red flags" were reported to be underused. Data on the consequences of delay for patients and health systems were sparse, but given the progressive nature of ATTR-CM, delay is likely to have adverse consequences. CONCLUSION:ATTR-CM patients commonly experience diagnostic delay and misdiagnosis. Efforts are required to provide timely diagnosis so that patients can benefit from earlier access to new disease-modifying therapies.
Authors: Rosa Lauppe; Johan Liseth Hansen; Anna Fornwall; Katarina Johansson; Mark H Rozenbaum; Anne Mette Strand; Merja Vakevainen; Johanna Kuusisto; Einar Gude; J Gustav Smith; Finn Gustafsson Journal: ESC Heart Fail Date: 2022-04-01
Authors: Maaike Brons; Steven A Muller; Frans H Rutten; Manon G van der Meer; Alexander F J E Vrancken; Monique C Minnema; Annette F Baas; Folkert W Asselbergs; Marish I F J Oerlemans Journal: Eur Heart J Open Date: 2022-02-24