Patient Perspective on Hereditary Transthyretin-Mediated (hATTR) Amyloidosis: A Qualitative Review

Background: Hereditary transthyretin-mediated (hATTR) amyloidosis is a rapidly progressive, life-threatening disease caused by a mutation in the transthyretin (TTR) gene. Due to multisystem nature of disease, patients often see multiple health care professionals (HCPs) from many specialties. hATTR amyloidosis progresses rapidly leading to deteriorating quality of life (QOL) and loss of function. The resulting symptom burden can affect patients’ activities of daily living and increase healthcare utilization.

Objective: To summarize hATTR amyloidosis symptoms and disease burden from the patient perspective.

Methods: A targeted literature search was conducted to identify patient descriptions of hATTR amyloidosis. Due to limited availability of publications, search was broadened to include other sources. Key data and patient descriptions were tabulated and organized.

Results: Fourteen sources were included. Patients described significant, life-altering consequences of hATTR amyloidosis and how symptoms resulted in a substantial impact on physical and mental health. Frequent symptoms included neuropathy, GI-related and cardiac-related symptoms, and autonomic dysfunction. Symptoms also impacted QOL and overall functioning. Patients required frequent medical care, straining finances, their ability to work, relationships, and emotional health.

Conclusions: These data highlight the debilitating nature of hATTR amyloidosis. Patients experienced a myriad of symptoms that worsened over time, resulting in difficulties with everyday activities, loss of freedom, increased reliance on others for care, and increased time in hospitals. Patients also reported a substantial strain on relationships, and a significant psychosocial and financial burden. It is crucial for HCPs to understand clinical manifestations of hATTR amyloidosis and collaborate to diagnose and treat patients.