Patient And Family Experience Of Transthyretin Amyloidosis: Results Of Two Focus Groups

Background Patients with transthyretin amyloidosis manage a chronic, life-threatening condition that severely affects their quality of life. Although the primary symptoms and diagnostic criteria for transthyretin amyloid cardiomyopathy (ATTR-CM) and transthyretin amyloid polyneuropathy (ATTR-PN) are well established, very little has been published on patient and family experience of these conditions. Two focus groups, one for ATTR-CM and one for ATTR-PN, were asked to describe the diagnostic process, symptoms, and impact on quality of life that they experienced from these illnesses. Results 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. Collectively, patients with ATTR-CM reported 26 different symptoms and patients with ATTR-PN reported 24 different symptoms. The ATTR-CM group identified intolerance to activity, inability to exercise, insomnia and fatigue as the most challenging symptoms. The ATTR-PN group identified fatigue, gastrointestinal symptoms and sensory symptoms as the most impactful symptoms. ATTR was reported to be highly stressful for both patients and their families. Spouses of patients with ATTR-CM were often in a caregiver role and 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. Despite these challenges, family members were also appreciated as a source of coping, motivation, inspiration and support. Conclusions 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.