Patient and Family Experience of Transthyretin Amyloidosis: Results of 2 Focus Groups

Patients with transthyretin amyloidosis (ATTR) “manage a chronic, life-threatening condition that severely affects their quality of life. Although the primary symptoms and diagnostic criteria for ATTR cardiomyopathy (ATTR-CM) and ATTR polyneuropathy (ATTR-PN) are well-established, very little has been published on patient and family experience of these conditions.” For this study, 2 focus groups, 1 for ATTR-CM and 1 for ATTR-PN, were asked to “describe the diagnostic process, symptoms, and impact on quality of life that they experienced from these illnesses.”

David Rintell, EdD, Head, Patient Advocacy, BridgeBio, Palo Alto, CA, and colleagues reported that “patients in both ATTR groups often experienced a long and difficult diagnostic odyssey characterized by misdiagnoses, inadequate interventions and delay in establishing the correct diagnosis leading to the specialized treatment they needed.” Patients with ATTR-CM and ATTR-PN reported 26 and 24 different symptoms, respectively. The symptoms identified as “most challenging” by patients in the ATTR-CM group included intolerance to activity, inability to exercise, insomnia, and fatigue. Patients in the ATTR-PN group identified fatigue, gastrointestinal symptoms, and sensory symptoms as the most challenging symptoms. Patients and their families reported that ATTR was “highly stressful” for them. Spouses of patients with ATTR-CM often served a caregiver role and also experienced considerable anxiety. Patients with ATTR-PN were “stressed not only by the physical consequences of their illness, but also by its effects on their parents and other relatives, and their worry about children and grandchildren inheriting their disease-causing mutations associated with ATTR.” Patients reported that they also appreciated family members as a source of coping, motivation, inspiration, and support.

“Several steps can be taken to reduce the challenges and burdens of living with ATTR, including more education for primary care physicians and specialists who encounter ATTR, ready access to mental health services and supports, and additional studies of patients’ experience,” said Dr Rintell and colleagues.

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