Healthcare Resource Utilization and Disease Burden in Patients with Transthyretin Amyloidosis with Cardiomyopathy: Results from the Amyloidosis Research Consortium Transthyretin Amyloidosis Burden of Illness Study

Background Transthyretin amyloidosis (ATTR) is a rare and often fatal disease caused by the inappropriate folding of the protein, transthyretin, which deposits in the heart, nerves, and musculoskeletal systems. ATTR can be caused by variant or hereditary (ATTRv) or wild-type (ATTRwt). Medical treatments become available in Europe (2011 for peripheral neuropathy) and in the US (peripheral neuropathy in 2018 and cardiomyopathy in 2019). The purpose of this study is to assess the current burden of disease in patients with ATTR in the setting of advanced diagnostics and new therapies. Methods The Amyloidosis Research Consortium (ARC) conducted an online survey of patients with ATTR amyloidosis in March 2023 including demographics, disease characteristics, healthcare resource utilization (HCRU), symptoms, and impacts on health-related quality of life through the Transthyretin Amyloidosis Quality of Life (ATTR-QOL) questionnaire. Results 303 patients took the survey at the time of the analysis and 196 patients had completed the entire survey. Of those who completed the survey, 168 (86%) reported cardiac involvement and were included in this analysis. Among those with ATTR-CM, 120 (71%) had ATTRwt, 150 (89%) lived in the US, 142 (85%) were male, 155 (92%) were white, and the mean age was 74.7 years. Patients saw 6 +/- 7.0 physicians over the previous 6 months and incurred > $1000 USD +/- $2000 out-of-pocket expenses over the previous 3 months. Patients reported deficits in physical and role functioning due to ATTR in the past 4 weeks, in many ways, including physically with 42% reporting substantial impairment in their ability to participate in physical activities and 26% reporting substantial impairment in their ability to participate in fun or recreational activities with other people. Emotionally, patients reported being burdened by feelings of worry about the future (28% with substantial impact) and worry that they may not be able to access the treatments that they need for ATTR (19% with substantial impact). The ten most common reported symptoms experienced in the past 4 weeks are shown in Figure 1 by level of severity. Fatigue and sexual dysfunction were most often reported to be experienced as moderate or severe. Conclusion ATTR-CM has a significant impact on patients’ quality of life. Patients experience a variety of symptoms that result in physical and emotional burdens and affect their ability to fulfill their family, work, or social roles. Further studies are essential to identify and address ongoing unmet needs of these patients. Transthyretin amyloidosis (ATTR) is a rare and often fatal disease caused by the inappropriate folding of the protein, transthyretin, which deposits in the heart, nerves, and musculoskeletal systems. ATTR can be caused by variant or hereditary (ATTRv) or wild-type (ATTRwt). Medical treatments become available in Europe (2011 for peripheral neuropathy) and in the US (peripheral neuropathy in 2018 and cardiomyopathy in 2019). The purpose of this study is to assess the current burden of disease in patients with ATTR in the setting of advanced diagnostics and new therapies. The Amyloidosis Research Consortium (ARC) conducted an online survey of patients with ATTR amyloidosis in March 2023 including demographics, disease characteristics, healthcare resource utilization (HCRU), symptoms, and impacts on health-related quality of life through the Transthyretin Amyloidosis Quality of Life (ATTR-QOL) questionnaire. 303 patients took the survey at the time of the analysis and 196 patients had completed the entire survey. Of those who completed the survey, 168 (86%) reported cardiac involvement and were included in this analysis. Among those with ATTR-CM, 120 (71%) had ATTRwt, 150 (89%) lived in the US, 142 (85%) were male, 155 (92%) were white, and the mean age was 74.7 years. Patients saw 6 +/- 7.0 physicians over the previous 6 months and incurred > $1000 USD +/- $2000 out-of-pocket expenses over the previous 3 months. Patients reported deficits in physical and role functioning due to ATTR in the past 4 weeks, in many ways, including physically with 42% reporting substantial impairment in their ability to participate in physical activities and 26% reporting substantial impairment in their ability to participate in fun or recreational activities with other people. Emotionally, patients reported being burdened by feelings of worry about the future (28% with substantial impact) and worry that they may not be able to access the treatments that they need for ATTR (19% with substantial impact). The ten most common reported symptoms experienced in the past 4 weeks are shown in Figure 1 by level of severity. Fatigue and sexual dysfunction were most often reported to be experienced as moderate or severe. ATTR-CM has a significant impact on patients’ quality of life. Patients experience a variety of symptoms that result in physical and emotional burdens and affect their ability to fulfill their family, work, or social roles. Further studies are essential to identify and address ongoing unmet needs of these patients.