Abstract
BackgroundHereditary 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.ResultsFourteen 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.ConclusionsThe 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.
Highlights
Hereditary transthyretin 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
All concepts relating to the impact of Hereditary transthyretin (hATTR) amyloidosis on patients’ health-related quality of life (HRQoL) were elicited in the first two sets of interviews
Four new concepts (7%) emerged in the last two sets of interviews, consisting primarily of symptoms that patients uncommonly attributed to hATTR amyloidosis, suggesting that 14 interviews were sufficient to reach saturation and that additional interviews would not have resulted in additional themes
Summary
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. Hereditary transthyretin (hATTR) amyloidosis is a rare, systemic, progressive, and life-threatening disease in which transthyretin (TTR) proteins misfold and aggregate as insoluble amyloid deposits, disrupting nervous, cardiac, and other organ tissues throughout the body [1, 2]. Signs and symptoms of hATTR amyloidosis typically present between 30 and 70 years of age, and the survival rate is 3–15 years after diagnosis, though onset and survival can vary widely by genetic mutation and clinical phenotype [4, 5]. Patients who have hATTR amyloidosis with CM typically experience symptoms such as fatigue, arrhythmia, and shortness of breath [10]
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