The patient’s perspective on the symptom and everyday life impact of AL amyloidosis

Lin, Huamao Mark; Seldin, David C.; Hui, Ai‐Min; Berg, Deborah; Dietrich, Camila; Flood, Emuella

doi:10.3109/13506129.2015.1102131

Cited by 32 publications

(43 citation statements)

References 15 publications

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“…14 Using published studies, patient and expert interviews, and patient blogs, Lin and colleagues developed a conceptual model of the manifestations of AL amyloidosis. 16 Many of the symptoms and impacts included in Lin and colleagues' conceptual model are similar to those of the current study. As data on patients' experience of ATTR accumulate, we recommend the development of a conceptual model for this form of amyloidosis.…”

Section: Discussionsupporting

confidence: 59%

“…Conceptual models have the potential to elucidate the effects of a disease helping to elaborate the causal relationships linking symptoms, functioning, health perceptions and quality of life. 15 A conceptual model can inform the development of patient-reported outcomes (PRO) measures for future clinical trials 16 and ultimately promote the design of effective treatments. 14 Using published studies, patient and expert interviews, and patient blogs, Lin and colleagues developed a conceptual model of the manifestations of AL amyloidosis.…”

Section: Discussionmentioning

confidence: 99%

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Patient and Family Experience With Transthyretin Amyloid Cardiomyopathy (ATTR-CM) and Polyneuropathy (ATTR-PN) Amyloidosis: Results of Two Focus Groups

Rintell

Heath

Menendez³

et al. 2020

Preprint

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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 in the medical literature, 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, diarrhea/constipation, sensory symptoms as the most difficult symptoms. In general, 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 support, patient advisory groups to help guide clinical trials and additional studies of patients’ experience.

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Section: Discussionsupporting

confidence: 59%

Section: Discussionmentioning

confidence: 99%

Patient and Family Experience With Transthyretin Amyloid Cardiomyopathy (ATTR-CM) and Polyneuropathy (ATTR-PN) Amyloidosis: Results of Two Focus Groups

Rintell

Heath

Menendez³

et al. 2020

Preprint

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“…Qualitative research indicates that patients with AL amyloidosis experience substantial burden that can lead to impairment in daily functioning [10, 11]. Furthermore, AL amyloidosis can lead to anxiety, frustration, and depression as patients grapple with the gravity and rarity of their condition [10, 12]. Although limited, quantitative studies provide evidence of deficits in both physical and mental aspects of HRQoL [13, 14].…”

Section: Introductionmentioning

confidence: 99%

The burden of amyloid light chain amyloidosis on health-related quality of life

Bayliss

McCausland

Guthrie

et al. 2017

Orphanet J Rare Dis

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BackgroundLight chain (AL) amyloidosis is a rare disease characterized by misfolded amyloid protein deposits in tissues and vital organs, and little is known about the burden of AL amyloidosis on health-related quality of life. This study aimed to quantify the burden of AL amyloidosis in terms of health-related quality of life in a diverse, community-based sample of AL amyloidosis patients.ResultsThe SF-36v2® Health Survey (SF-36v2), a widely used generic measure of health-related quality of life (using physical and mental summary scales and subscales assessing eight aspects of functioning and well-being), was administered as an online survey of AL amyloidosis patients with AL amyloidosis (ClinicalTrials.gov, NCT02574676; n = 341). Compared with adjusted general population sample norms, health-related quality of life of AL amyloidosis patients was significantly worse across all SF-36v2 scales and summary measures based on analysis of variance (p < 0.05 for all). The largest decrement in AL amyloidosis patients was related to General Health (Δ = 9.7; p < 0.001). With the exception of Bodily Pain and Mental Health, differences were also clinically meaningful based on established clinically minimal important differences. The burden of AL amyloidosis overall and in key subgroups tended to be greater on physical health than on mental health. Stratified analyses indicated additional burden among patients with recently diagnosed disease and those with cardiac involvement than among their respective counterparts.ConclusionUnderstanding the burden of AL amyloidosis highlights the unmet need for treatment, helps physicians identify ancillary treatments and services geared towards improving patients’ functioning, well-being, and overall health-related quality of life. These findings also help to support the use of health-related quality of life end points as important outcome measures in current and future treatment studies.Trial registrationClinicalTrials.gov, NCT02574676. Registered October 5, 2015.

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“…Light chain amyloidosis (AL) is a disease with multi‐organ damage and a wide spectrum of presentations. Patients with AL often have delayed diagnosis and present with significant symptomatology, which may result in lower overall QOL . These issues can results in increased depression and anxiety in AL, one study showed rates of of anxiety and depression in AL of 37% and 46.7%, respectively,much higher than the general population .…”

Section: Introductionmentioning

confidence: 99%

Hematology patient reported symptom screen to assess quality of life for AL amyloidosis

et al. 2017

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Patients with light chain amyloidosis (AL) often have delayed diagnosis and present with significant symptomatology; this may result in decreased quality of life (QOL). We prospectively employ a "Hematology Patient Reported Symptom Screen" (HPRSS), which is three questions about fatigue, pain, and QOL, scored 0-10. The aim of this study is to better understand QOL and determine if HPRSS parameters predict for clinical outcomes. From 2009 to 2014, 302 newly diagnosed AL patients were included. Baseline median scores [interquartile range] for fatigue, pain, and QOL were 6 [3,7], 2 [0,5], 5 [3,8], respectively. Median overall survival was 53 months, with 102 (34%) deaths in the first year. There were significant differences in baseline HPRSS between those that lived longer than one year and early death patients in the domains of fatigue (5 [IQR 3, 7] vs. 7 [IQR 5, 8], P < 0.0001) and QOL (6 [IQR 4, 8] vs. 5 [IQR 3, 7], P = 0.006). On univariate analysis fatigue, QOL, physician-reported performance status, autologous stem cell transplant (ASCT), and Mayo stage were prognostic for survival. On multivariate analysis Mayo stage, ASCT, and baseline fatigue remained independently prognostic. When analyses were restricted to the 125 patients with HPRSS measurements at 12 months, we found that over time QOL scores improved significantly 6 [IQR 3.5, 8] → 7 [IQR 5, 8] (P = 0.01). Asking AL patients to rate their fatigue and QOL has predictive value. Baseline patient reported fatigue is an independent prognostic factor for survival. Survival at one year was associated with significant improvement in QOL.

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The patient’s perspective on the symptom and everyday life impact of AL amyloidosis

Abstract: Symptoms can vary widely, but a core set of symptoms were common across patients. The conceptual model derived from this study can be used to ensure a patient-centered approach to drug development.

Cited by 32 publications

References 15 publications

Patient and Family Experience With Transthyretin Amyloid Cardiomyopathy (ATTR-CM) and Polyneuropathy (ATTR-PN) Amyloidosis: Results of Two Focus Groups

Patient and Family Experience With Transthyretin Amyloid Cardiomyopathy (ATTR-CM) and Polyneuropathy (ATTR-PN) Amyloidosis: Results of Two Focus Groups

The burden of amyloid light chain amyloidosis on health-related quality of life

Hematology patient reported symptom screen to assess quality of life for AL amyloidosis

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