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

Abstract

Background Hereditary transthyretin-mediated (hATTR) amyloidosis is a rare, inherited, rapidly progressive, life-threatening disease. It is caused by a mutation in the transthyretin (TTR) gene that results in misfolded TTR proteins that accumulate as amyloid fibrils in multiple tissues, including the nerves, heart, and gastrointestinal (GI) tract. Due to the multisystem nature of the disease, patients with hATTR amyloidosis often see multiple physicians, nurses, and other health care professionals (HCPs) in a variety of specialties from the onset of symptoms to eventual diagnosis and long-term care. hATTR amyloidosis has an aggressive course with rapid disease progression leading to deteriorating quality of life (QOL) and loss of function. The resulting burden of these symptoms can affect patients' ability to perform activities of daily living (ADLs), increase dependence on caregivers, and increase healthcare utilization. Objectives Clinical aspects of the symptoms that patients experience have been described, but there has been minimal portrayal of the disease from the patient perspective. This abstract provides a summary of the most meaningful symptoms of hATTR amyloidosis and the resulting disease burden from the patient perspective. Methods A targeted literature search of peer-reviewed publications was conducted to identify patient descriptions of hATTR amyloidosis. Due to the limited availability of such publications, the search was broadened to include other sources such as reports developed by patient advocacy organizations. Key data and patient descriptions were tabulated and organized by construct. Results Fourteen sources met the eligibility criteria of the literature search and were included in this analysis. Patients described the significant, life-altering consequences of hATTR amyloidosis and how related symptoms resulted in a substantial impact on physical and mental health. Frequent symptoms included neuropathy (e.g., nerve pain, numbness in hands and feet, falling), GI-related symptoms (e.g., diarrhea, nausea, vomiting), cardiac-related symptoms (e.g., heart palpitations, weak heart, cardiomyopathy), and autonomic dysfunction (e.g., difficulty standing, incontinence, orthostatic hypotension). These symptoms impacted QOL and overall functioning, affecting mobility, ADLs, and independence. hATTR amyloidosis also required frequent medical care, putting substantial strain on finances, ability to work, relationships, and emotional health. Conclusions hATTR amyloidosis is a progressive, life-threatening disease that causes damage to multiple organs. These data highlight the debilitating nature of hATTR amyloidosis, as described by the patients. 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 amount of time spent in hospitals. Patients also reported the disease can place substantial strain on relationships, as well as creating a significant psychosocial and financial burden. Therefore, it is crucial for physicians, nurses, and other HCPs to understand the clinical manifestations of hATTR amyloidosis and work collaboratively to diagnose and treat this disease.