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Background <p> <!--Query ID="Q1" Text="Please check if the article title is presented correctly. " Resolved="yes"-->Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive condition for which disease-modifying therapies are increasingly available. However, limited research has explored the patient experience with ATTR-CM and its impact on quality of life.<!--Query ID="Q2" Text="Please check and confirm that the authors and their respective affiliations have been correctly identified and amend if necessary. " Resolved="yes"--></p> Methods <p> <!--Query ID="Q3" Text="Please check abbreviation section if the provided description of the corresponding terms are captured correctly. " Resolved="yes"-->In this single-center qualitative study, we conducted semi-structured interviews with ten participants (either with ATTR-CM or at-risk family members). At-risk family members were defined as asymptomatic individuals with a clinically actionable TTR variant that were identified through cascade genetic testing. Interviews were recorded, transcribed, and analyzed using a hybrid deductive and inductive approach. Two independent experts assessed participants’ knowledge of ATTR-CM.</p> Results <p>Four exploratory themes emerged regarding the ATTR-CM patient journey. Participants demonstrated moderate to excellent knowledge of disease and an appropriate level of confidence. Diagnostic delays were a major source of frustration and were largely attributed to limited knowledge among non-specialist providers. While these providers often recognized that something was wrong, they struggled with appropriate diagnostic work-up and timely specialist referrals. Patients also noted disparities in ATTR-CM care based on geography, race, and socioeconomic status. Reactions to support groups were mixed, with concerns about re-traumatization being most prominent.</p> Conclusions <p>This qualitative study explores aspects of the ATTR-CM patient experience not captured through conventional clinical pathways. Diagnostic delays appeared to be driven by non-specialist provider knowledge gaps and systemic disparities in access to specialized care. These preliminary insights may inform the design of multidisciplinary care models that better reflect patient needs and priorities.</p>

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Living with Transthyretin amyloid cardiomyopathy from a patient perspective

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月12日

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  • Quan M. Bui,
  • Julia McCain,
  • Larry A. Allen,
  • Eric D. Adler,
  • Cheryl Anderson,
  • Cinnamon Bloss,
  • Borsika A. Rabin,
  • Marcus A. Urey

摘要

Background

Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive condition for which disease-modifying therapies are increasingly available. However, limited research has explored the patient experience with ATTR-CM and its impact on quality of life.

Methods

In this single-center qualitative study, we conducted semi-structured interviews with ten participants (either with ATTR-CM or at-risk family members). At-risk family members were defined as asymptomatic individuals with a clinically actionable TTR variant that were identified through cascade genetic testing. Interviews were recorded, transcribed, and analyzed using a hybrid deductive and inductive approach. Two independent experts assessed participants’ knowledge of ATTR-CM.

Results

Four exploratory themes emerged regarding the ATTR-CM patient journey. Participants demonstrated moderate to excellent knowledge of disease and an appropriate level of confidence. Diagnostic delays were a major source of frustration and were largely attributed to limited knowledge among non-specialist providers. While these providers often recognized that something was wrong, they struggled with appropriate diagnostic work-up and timely specialist referrals. Patients also noted disparities in ATTR-CM care based on geography, race, and socioeconomic status. Reactions to support groups were mixed, with concerns about re-traumatization being most prominent.

Conclusions

This qualitative study explores aspects of the ATTR-CM patient experience not captured through conventional clinical pathways. Diagnostic delays appeared to be driven by non-specialist provider knowledge gaps and systemic disparities in access to specialized care. These preliminary insights may inform the design of multidisciplinary care models that better reflect patient needs and priorities.