This qualitative study explored patients’ perspectives on the impact of hATTR amyloidosis on work as a result of both disease and treatment burden.

Hereditary transthyretin amyloidosis (hATTR) is a rare, systemic, progressive, fatal disease characterized by the buildup of misfolded protein deposits in tissues and organs, causing significant neurologic, cardiac and autonomic deficits.

Fourteen adult patients with hATTR amyloidosis, recruited through the Amyloidosis Support Group (ASG) and Boston University’s Amyloidosis Center, participated in hour-long, concept elicitation interviews either in person or by telephone. NVivo Qualitative software was used for qualitative analysis.

Patients described how hATTR symptoms and treatments limited their ability to participate in the work force. Patients’ ability to continue working was mostly determined by the timing of symptom onset and progression. Nine patients whose symptoms began prior to retirement reported that they were forced to retire early or leave the workforce due to mobility issues, gastrointestinal problems, inability to drive, manual dexterity problems, and challenges focusing on work-related tasks. Two patients reported that they were working currently, but felt slowed down, and three who had retired prior to symptom onset did not attribute the cessation of work to their hATTR. Time commitments associated with treatment for hATTR were reported as a major impediment to work; particularly for four patients, whose treatment involved monthly commitments requiring multiple days, doctor’s visits, and lengthy travel. A common recurring theme was the desire for treatment to return them to a higher level of independence, including the ability to return to work and to remain a functioning member of society.

The disabling nature of the condition in conjunction with treatment-related burden presents significant challenges that interfere with and interrupt patients’ ability to work. Effective, less burdensome treatment options are needed to address this highly disabling progressive disease.