Patient-reported burden of hereditary transthyretin amyloidosis on functioning and well-being
Abstract Background Hereditary transthyretin (hATTR) amyloidosis is a rare, systemic, progressive, and life-threatening disease in which transthyretin proteins misfold and aggregate as insoluble amyloid deposits, disrupting nervous, cardiac, gastrointestinal, and other organ tissues. There are limit...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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SpringerOpen
2021-01-01
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| Series: | Journal of Patient-Reported Outcomes |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s41687-020-00273-y |
| _version_ | 1818452952331845632 |
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| author | Andrew Lovley Kimberly Raymond Spencer D. Guthrie Michael Pollock Vaishali Sanchorawala Michelle K. White |
| author_facet | Andrew Lovley Kimberly Raymond Spencer D. Guthrie Michael Pollock Vaishali Sanchorawala Michelle K. White |
| author_sort | Andrew Lovley |
| collection | DOAJ |
| description | Abstract Background Hereditary transthyretin (hATTR) amyloidosis is a rare, systemic, progressive, and life-threatening disease in which transthyretin proteins misfold and aggregate as insoluble amyloid deposits, disrupting nervous, cardiac, gastrointestinal, and other organ tissues. There are limited available data about the experience of patients living with hATTR amyloidosis. This study used a qualitative, non-interventional design to explore the humanistic burden of hATTR amyloidosis from the patient’s perspective. Results Fourteen adults with hATTR amyloidosis, recruited from a patient advocacy group or an academic clinical center, participated in individual semi-structured interviews either in person or by telephone. Patients were asked to describe their experiences living with the condition, including symptoms and disease-related impacts on functioning and well-being, work, and activities of daily living (ADLs). Interviews were transcribed verbatim and analyzed for key concepts using a grounded theory approach. Patients described many symptoms of hATTR amyloidosis, particularly those associated with peripheral neuropathy such as pain, numbness, weakness, and paresthesia. Symptoms of autonomic neuropathy, such as gastrointestinal dysfunction, and symptoms related to cardiac dysfunction were also common. Worsening symptoms, especially those impacting patients’ ability to walk or use their hands, often led to a loss of autonomy and an inability to work or perform ADLs. Disease-related disability also interfered with patients’ participation in social activities, and contributed to feelings of fear, frustration, or sadness. Conclusions The impacts of hATTR amyloidosis were profound for the patients interviewed for this study. They described a sense of loss as their condition progressed and impacted them physically, emotionally, and socially. Patients’ reports of symptoms and impacts of hATTR amyloidosis illustrate the complex and varied manifestations of this disease. The progression of symptoms and increasing impacts of hATTR amyloidosis also highlight the need for an earlier diagnosis and effective clinical intervention to preserve patients’ functioning and well-being. |
| first_indexed | 2024-12-14T21:31:16Z |
| format | Article |
| id | doaj.art-7546aeb03b9a4890a5294cab68ad86cd |
| institution | Directory Open Access Journal |
| issn | 2509-8020 |
| language | English |
| last_indexed | 2024-12-14T21:31:16Z |
| publishDate | 2021-01-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Journal of Patient-Reported Outcomes |
| spelling | doaj.art-7546aeb03b9a4890a5294cab68ad86cd2022-12-21T22:46:42ZengSpringerOpenJournal of Patient-Reported Outcomes2509-80202021-01-015111010.1186/s41687-020-00273-yPatient-reported burden of hereditary transthyretin amyloidosis on functioning and well-beingAndrew Lovley0Kimberly Raymond1Spencer D. Guthrie2Michael Pollock3Vaishali Sanchorawala4Michelle K. White5QualityMetric IncorporatedQualityMetric IncorporatedAurora BioAkcea TherapeuticsAmyloidosis Center, Boston University School of Medicine and Boston Medical CenterQualityMetric IncorporatedAbstract Background Hereditary transthyretin (hATTR) amyloidosis is a rare, systemic, progressive, and life-threatening disease in which transthyretin proteins misfold and aggregate as insoluble amyloid deposits, disrupting nervous, cardiac, gastrointestinal, and other organ tissues. There are limited available data about the experience of patients living with hATTR amyloidosis. This study used a qualitative, non-interventional design to explore the humanistic burden of hATTR amyloidosis from the patient’s perspective. Results Fourteen adults with hATTR amyloidosis, recruited from a patient advocacy group or an academic clinical center, participated in individual semi-structured interviews either in person or by telephone. Patients were asked to describe their experiences living with the condition, including symptoms and disease-related impacts on functioning and well-being, work, and activities of daily living (ADLs). Interviews were transcribed verbatim and analyzed for key concepts using a grounded theory approach. Patients described many symptoms of hATTR amyloidosis, particularly those associated with peripheral neuropathy such as pain, numbness, weakness, and paresthesia. Symptoms of autonomic neuropathy, such as gastrointestinal dysfunction, and symptoms related to cardiac dysfunction were also common. Worsening symptoms, especially those impacting patients’ ability to walk or use their hands, often led to a loss of autonomy and an inability to work or perform ADLs. Disease-related disability also interfered with patients’ participation in social activities, and contributed to feelings of fear, frustration, or sadness. Conclusions The impacts of hATTR amyloidosis were profound for the patients interviewed for this study. They described a sense of loss as their condition progressed and impacted them physically, emotionally, and socially. Patients’ reports of symptoms and impacts of hATTR amyloidosis illustrate the complex and varied manifestations of this disease. The progression of symptoms and increasing impacts of hATTR amyloidosis also highlight the need for an earlier diagnosis and effective clinical intervention to preserve patients’ functioning and well-being.https://doi.org/10.1186/s41687-020-00273-yAmyloidosisBurden of diseaseQuality of lifePatient interviewsQualitativeRare disease |
| spellingShingle | Andrew Lovley Kimberly Raymond Spencer D. Guthrie Michael Pollock Vaishali Sanchorawala Michelle K. White Patient-reported burden of hereditary transthyretin amyloidosis on functioning and well-being Journal of Patient-Reported Outcomes Amyloidosis Burden of disease Quality of life Patient interviews Qualitative Rare disease |
| title | Patient-reported burden of hereditary transthyretin amyloidosis on functioning and well-being |
| title_full | Patient-reported burden of hereditary transthyretin amyloidosis on functioning and well-being |
| title_fullStr | Patient-reported burden of hereditary transthyretin amyloidosis on functioning and well-being |
| title_full_unstemmed | Patient-reported burden of hereditary transthyretin amyloidosis on functioning and well-being |
| title_short | Patient-reported burden of hereditary transthyretin amyloidosis on functioning and well-being |
| title_sort | patient reported burden of hereditary transthyretin amyloidosis on functioning and well being |
| topic | Amyloidosis Burden of disease Quality of life Patient interviews Qualitative Rare disease |
| url | https://doi.org/10.1186/s41687-020-00273-y |
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