Interviews were conducted between August 2019 and March 2020. Patients’ interviews lasted 48.4 minutes (range, 12-79 minutes) and those of the experts’ lasted 21.9 minutes (range, 12-34 minutes) on average.
Participant Characteristics
Patients: The 20 patients represented men and women of diverse ages. Most (80%) had been diagnosed at least a year previously, with 40% diagnosed at least five years previously, and 25% diagnosed at least ten years previously (Table 1).
Professionals: The 10 professionals represented men and women, with different expertise, varying length of years in practice and geographic locations of practice.
The major themes identified in the interviews included the following: Diagnosis of AL amyloidosis, Living with AL amyloidosis, Symptom burden, Social Roles, and Barriers to collecting PROs in clinical practice. The overarching themes with subthemes along with representative quotes are shown in Table 2.
Theme I. Diagnosis of AL amyloidosis
Patients identified the difficulty in getting a diagnosis. Many patient symptoms were non-specific and were initially attributed by patients or their doctors as related to aging. For some patients this process took over a year of specialists, tests, and misdiagnosis to arrive at their AL diagnosis. Some patients expressed a sense of relief upon receiving a diagnosis.
Professionals also highlighted the arduous path to diagnosis that patients often face as well as relief after obtaining the diagnosis. Some also endorsed the initial worry and fears for patients after the diagnosis of amyloidosis.
Theme II. Living with AL amyloidosis
Patients recognized the long delay after starting treatment before they noticed improvement. This period sometimes took years to achieve. Patients also acknowledged that owing to the severity of the disease they were not able to do activities of daily living or needed assistance to care for themselves. Patients with AL amyloidosis described that the disease itself had many uncertainties on what could be expected after the initial treatment phase.
Professionals brought up multiple perspectives centered on the complexity of healthcare for patients that could result in several unique issues patients with AL amyloidosis face. For example, given the complex and multisystemic nature of the disease, patients would need to have multiple health care visits which added to the burden of living with the disease. Professionals expressed that the ability to care for oneself can be challenging for patients with AL amyloidosis and thus the need for dependence on others, particularly during the initial stage of the disease. Like patients, experts discussed the long time it may take for patients to feel improved even after the underlying disease may be well controlled, consistent with the pathophysiology of the disease and its treatment.
Theme III. Symptom burden of AL amyloidosis
The symptom experience of patients with AL amyloidosis was extensive and variable. Patients recognized symptoms but sometimes had difficulty identifying the source, not sure whether to attribute symptoms to amyloidosis, aging/chronic conditions, or treatment of AL amyloidosis. Patients talked about life adjustments owing to AL disease and its treatment even years after diagnosis. In specific, patients perceived that symptoms of AL amyloidosis may never resolve and that this prevented them from being able to do what they were previously able to do. Patients described that in addition to the disease itself, they also developed new symptoms from the treatment. Professionals caring for AL amyloidosis patients also described numerous and severe symptomatology of AL amyloidosis. Specifically, they noted that symptoms of AL amyloidosis can depend on the organs involved with fibril deposition and the stage of the disease. AL experts also recognized that some symptoms arise from treatment of the disease.
Based on the reported AL amyloidosis symptoms, we created a conceptual framework of the symptom experience of AL amyloidosis (Figure 1). Figure 2 shows a representation of symptoms that were endorsed more than twice as word clouds by patients (A) and experts (B).
Theme IV. Social roles
Patient participants expressed the need for a support system of family, friends, and the healthcare team that helped them manage the disease. They noted changes in relationships with family and friends in life owing to AL amyloidosis. Multiple patients were frustrated by the inability to maintain their work schedule and remain productive.
AL professionals also reiterated several changes in social roles faced by patients. They recognized the large and important role that caregivers add to quality of life for AL amyloidosis patients. Some experts felt that AL amyloidosis may contribute to social isolation, subsequently impacting quality of life, but others felt that having AL amyloidosis may result in patients spending more time with family and friends. Experts also expressed the financial burden and challenges for patients and caregivers, both from healthcare costs and loss of income.
Barriers to QOL collection in clinic
One of our pre-specified themes of interest included perspectives from AL experts regarding the value of health-related quality of life survey tools and collection of PROs from AL amyloidosis patients in the clinic. Participants recognized that the uniform administration of surveys can be cumbersome, whether these were done in the clinic electronically or on paper, additional resources that needed to be set up, and the ease of administration. They noted the added burden of completing surveys frequently may be frustrating for patients in addition to specific limitations faced by AL patients, e.g. neuropathy. Some experts recognized the need for clinicians to have guidance to interpret the results and explanations or algorithms on what to do with the responses. Finally, AL experts also identified that responses may be biased toward patients who are able to navigate the healthcare system better or skewed to those who have more symptoms.