Patient-Reported Burden of Hereditary Transthyretin Amyloidosis

Recognized as a rare, progressive, systemic, and life-threatening disease, hereditary transthyretin amyloidosis (hATTR) is characterized by transthyretin proteins misfolding and aggregating as insoluble amyloid deposits that disrupt tissues of the cardiac, nervous, gastrointestinal, and other organ systems. While the etiology and end-organ impacts are well understood, the effect of the disease on patients living with hATTR is not well-described. A qualitative, noninterventional designed study was used to investigate patients’ perspectives regarding the impact of hATTR.

Recruited from patient advocacy groups and an academic clinical center, a total of 14 adults who had been diagnosed with hATTR were included in the study. The individual semistructured interviews were conducted either in person or by telephone. Participants discussed their experiences living with hATTR, specifically describing symptoms and disease-related impacts on their well-being and functioning, work, and daily living activities.

Using a grounded theory approach, interviews were evaluated for key concepts.

Many symptoms of hATTR were described by patients. These included peripheral neuropathy–associated symptoms such as paresthesia, pain, numbness, and weakness. Symptoms related to cardiac dysfunction and autonomic neuropathy, such as gastrointestinal dysfunction, were also common.

Loss of autonomy and being unable to work or conduct daily activities were caused by worsening symptoms, particularly patients’ diminished ability to walk or use their hands. Disease-related disability exacerbated feelings of anxiety, dissatisfaction, or unhappiness, while hindering patients’ participation in social activities. For the patients interviewed, the impact of hATTR was profound. As their ailments progressed, they expressed a sense of loss, and were physically, emotionally, and socially impacted. The complex and varied manifestations of this disease are highlighted by patients’ reports of symptoms and disease burden. To preserve patients’ functioning and well-being, there is a clear need for clinicians to recognize the overall symptom progression, underscoring the importance of prompt diagnosis and effective treatment as well as clinical intervention.

Source: Lovley A, Raymond K, Guthrie SD, et al. Patient-reported burden of hereditary transthyretin amyloidosis on functioning and well-being. J Patient Rep Outcomes. 2021;5:3.

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