Systemic Amyloidosis Recognition, Prognosis, and Therapy

Gertz, Morie A.; Dispenzieri, Angela

doi:10.1001/jama.2020.5493

Cited by 220 publications

(250 citation statements)

References 84 publications

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“…1 BridgeBio, Palo Alto, CA, USA. 2 Amyloidosis Research Consortium, Newton, MA, USA. 3 Alianza Argentina de Pacientes, Buenos Aires, Argentina.…”

Section: Authors' Contributionsunclassified

“…Symptoms attributable to amyloidosis are usually nonspecific and insidious, often resulting in delayed or missed diagnosis. Despite significant improvements in non-invasive diagnostic modalities and accuracy within the past decade, even when combined with the emergence of new classes of therapy and management strategies, the patient journey for those suffering with amyloidosis remains arduous and frustrating due in large part to the collective rarity and nonspecific clinical presentations seen across the condition's various types [2].…”

Section: Introductionmentioning

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

Mendendez³

et al. 2021

Orphanet J Rare Dis

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Background Transthyretin amyloidosis, or ATTR, is a progressive and debilitating rare proteopathy generally manifested as either transthyretin amyloid polyneuropathy (ATTR-PN) or transthyretin amyloid cardiomyopathy (ATTR-CM). Irrespective of the clinical presentation, affected patients manage a chronic and life-threatening condition that severely impacts their quality of life. Although the primary symptoms and diagnostic criteria for ATTR are increasingly being discussed in the medical literature, due in large part by continual advances in uncovering disease pathophysiology, there exists a surprising paucity of published data on the patient journey and family experience. In order to address this disparity, two focus groups, one for ATTR-CM and one for ATTR-PN, were convened and asked to describe the diagnostic process, symptoms, and impact on their own quality of life that was experienced from these rare and typically misdiagnosed illnesses. Results Patients in both ATTR groups often underwent a long and difficult diagnostic odyssey characterized by seemingly nonspecific physical manifestations resulting in mismanagement and suboptimal care, inadequate interventions, and delays in establishing the correct diagnosis, which was integral to determining the specialized treatment they needed. Collectively, patients with ATTR-CM and patients with ATTR-PN reported a similar number of symptoms, but the type of symptoms varied. 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 and sensory deficits 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 reported experiencing 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, as well as concerns about children and grandchildren inheriting the disease-causing mutations associated with ATTR. Despite such challenges, family members are identified as an important resource of coping, motivation, inspiration and support. Conclusions Several steps can be taken to reduce the challenges and burdens of living with ATTR, including increased education for primary care physicians and specialists who unknowingly encounter ATTR, increased access to and ready availability of mental health services and support, and increased engagement with support groups and advocacy organizations. Input from patients and their representatives should guide clinical trials, increase the availability of genetic testing, and generate natural history and qualitative studies detailing patients’ experience. Although each recommendation is impactful in itself, taken together they would jointly facilitate a shortened and ameliorated patient journey through more timely diagnosis and greater access to personalized medical care.

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“…1 BridgeBio, Palo Alto, CA, USA. 2 Amyloidosis Research Consortium, Newton, MA, USA. 3 Alianza Argentina de Pacientes, Buenos Aires, Argentina.…”

Section: Authors' Contributionsunclassified

Section: Introductionmentioning

confidence: 99%

Patient and family experience with transthyretin amyloid cardiomyopathy (ATTR-CM) and polyneuropathy (ATTR-PN) amyloidosis: results of two focus groups

Rintell

Heath

Mendendez³

et al. 2021

Orphanet J Rare Dis

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“…The detection of Congo red positivity in the tissue biopsy is not sufficient for diagnosis and treatment of AL. Fibri -characterization is mandatory [12].…”

Section: Verification Of Almentioning

confidence: 99%

Immunoglobulin light chain amyloidosis

Agis

Krauth

2021

memo

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SummaryImmunoglobulin light chain (AL) amyloidosis is a rare and underdiagnosed life-threatening systemic disease, primarily caused by insoluble depositions of misfolded monoclonal light chains. The monoclonal light chain paraprotein originates from a small clonal B‑cell or a clonal plasma cell population. If left undetected the paraprotein can induce a number of complications based on organ damage. The most dangerous and life-threatening organ dysfunction emerges from cardiac involvement. Thus, patients overall survival depends on early detection. Establishing the correct diagnosis and clear characterization of the amyloid-forming protein, staging, risk assessment and treatment are crucial and depend on a highly experienced interdisciplinary, multiprofessional team.

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“…Therefore, implementing diphosphonate scintigraphy into the diagnostic algorithm of cardiac amyloidosis is of paramount importance as AL and ATTR amyloidosis claim for different therapeutic approaches. In AL amyloidosis, chemotherapy regimens consisting of melphalan, dexamethasone, and bortezomib, with or without autologous stem cell transplantation, are effective in decreasing free light chain production, the precursors of amyloid fibrils [119,120], while in patients with amyloidotic cardiomyopathy resulting from ATTR amyloidosis (either hereditary or wild-type), tafamidis is indicated in those with NYHA class I to III symptoms [121]. Patisirsan and inotersen should be considered only in patients with hereditary ATTR amyloidosis and polyneuropathy, with none of these two transthyretin gene silencers being recommended in hereditary ATTR cardiomyopathy without polyneuropathy or in wild-type ATTR cardiomyopathy [122].…”

Section: Implications Of Multimodality Imaging In Monitoring Disease mentioning

confidence: 99%

The Importance of Multimodality Imaging in the Diagnosis and Management of Patients with Infiltrative Cardiomyopathies: An Update

et al. 2021

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Infiltrative cardiomyopathies (ICMs) comprise a broad spectrum of inherited and acquired conditions (mainly amyloidosis, sarcoidosis, and hemochromatosis), where the progressive buildup of abnormal substances within the myocardium results in left ventricular hypertrophy and manifests as restrictive physiology. Noninvasive multimodality imaging has gradually eliminated endomyocardial biopsy from the diagnostic workup of infiltrative cardiac deposition diseases. However, even with modern imaging techniques’ widespread availability, these pathologies persist in being largely under- or misdiagnosed. Considering the advent of novel, revolutionary pharmacotherapies for cardiac amyloidosis, the archetypal example of ICM, a standardized diagnostic approach is warranted. Therefore, this review aims to emphasize the importance of contemporary cardiac imaging in identifying specific ICM and improving outcomes via the prompt initiation of a targeted treatment.

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Systemic Amyloidosis Recognition, Prognosis, and Therapy

Cited by 220 publications

References 84 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

Immunoglobulin light chain amyloidosis

The Importance of Multimodality Imaging in the Diagnosis and Management of Patients with Infiltrative Cardiomyopathies: An Update

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