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Hematology. American Society of... Dec 2023Diagnosing amyloidosis can be challenging due to its clinical heterogeneity, need for multiple specialists to make a diagnosis, and lack of a single diagnostic test for...
Diagnosing amyloidosis can be challenging due to its clinical heterogeneity, need for multiple specialists to make a diagnosis, and lack of a single diagnostic test for the disease. Patients are often diagnosed late, in advanced stage, and after exhibiting multiple symptoms and signs for a long period. It is important to develop a clinical suspicion of amyloidosis, particularly in those with multisystemic symptoms and high-risk patient populations such as those with precursor hematologic conditions. A systematic approach to the workup of suspected amyloidosis is key, including a comprehensive clinical assessment, laboratory tests to assess organ involvement, advanced imaging studies, screening for plasma cell disorder, and tissue biopsy when necessary. After making a diagnosis of amyloidosis, accurate typing of amyloid deposits, differentiating between localized and systemic amyloidosis, and appropriately staging the disease is important. Early diagnosis is crucial for improving patient outcomes and quality of life in light chain amyloidosis.
Topics: Humans; Quality of Life; Amyloid; Amyloidosis; Immunoglobulin Light-chain Amyloidosis; Paraproteinemias
PubMed: 38066929
DOI: 10.1182/hematology.2023000440 -
Blood Dec 2021
Topics: Amyloidosis; Humans; Immunoglobulin Light Chains; Immunoglobulin Light-chain Amyloidosis
PubMed: 34940822
DOI: 10.1182/blood.2021013817 -
Hematology/oncology Clinics of North... Dec 2020Immunoglobulin light chain amyloidosis is the most common systemic amyloidosis. The pathogenetic mechanism is deposition of fibrils of misfolded immunoglobulin free... (Review)
Review
Immunoglobulin light chain amyloidosis is the most common systemic amyloidosis. The pathogenetic mechanism is deposition of fibrils of misfolded immunoglobulin free light chains, more often lambda, typically produced by clonal plasma cells. Distinct Ig light chain variable region genotypes underlie most light chain amyloidosis and dictate tissue tropism. Light chain amyloidosis fibrils cause distortion of the histologic architecture and direct cytotoxicity, leading to rapidly progressive organ dysfunction and eventually patient demise. A high index of clinical suspicion with rapid tissue diagnosis and commencement of combinatorial, highly effective cytoreductive therapy is crucial to avoid irreversible organ damage and early mortality.
Topics: Amyloid; Humans; Immunoglobulin Light Chains; Immunoglobulin Light-chain Amyloidosis; Plasma Cells
PubMed: 33099420
DOI: 10.1016/j.hoc.2020.08.001 -
Journal of General Internal Medicine Aug 2021
Topics: Humans; Immunoglobulin Light-chain Amyloidosis; Multiple Myeloma; Tongue; Tongue Diseases
PubMed: 34027604
DOI: 10.1007/s11606-021-06890-7 -
JNMA; Journal of the Nepal Medical... Oct 2023Primary systemic amyloidosis is a systemic disease characterised by the deposition of misfolded proteins extracellularly in different organs without any known cause in...
UNLABELLED
Primary systemic amyloidosis is a systemic disease characterised by the deposition of misfolded proteins extracellularly in different organs without any known cause in the background, eventually leading to multiorgan dysfunction and death. The incidence of primary amyloidosis is estimated at 5.1-12.8 cases per million, with a poor prognosis. We report a case of a 69-year male with lower back pain, shortness of breath, and anasarca diagnosed as primary systemic amyloidosis by serum-free light chain assay and kidney needle biopsy. He was started on intravenous bortezomib and dexamethasone. Though he adhered to his medications, with time he developed renal insufficiency marked by azotemia following which hemodialysis was performed. Primary systemic amyloidosis is a rare clinical condition with a very poor prognosis. Further studies are needed to understand the proper pathophysiology and treatment of the disease.
KEYWORDS
cardiomyopathies; case reports; primary amyloidosis.
Topics: Humans; Male; Immunoglobulin Light-chain Amyloidosis; Amyloidosis; Bortezomib; Renal Insufficiency; Prognosis
PubMed: 38289775
DOI: 10.31729/jnma.8297 -
Journal of Medical Case Reports Apr 2023Systemic amyloidosis is group of disorders characterized by the accumulation of insoluble proteins in tissues. The most common form of systemic amyloidosis is light... (Review)
Review
BACKGROUND
Systemic amyloidosis is group of disorders characterized by the accumulation of insoluble proteins in tissues. The most common form of systemic amyloidosis is light chain amyloidosis, which results from the accumulation of misfolded immunoglobulins. The disease is progressive, with treatment targeted at the underlying plasma cell dyscrasia. Since essentially any organ system can be affected, the presentation is variable and delays in diagnosis are common. Given this diagnostic difficulty, we discuss four different manifestations of light chain amyloidosis.
CASE PRESENTATIONS
In this case series, we discuss four cases of light chain amyloidosis. These include cardiac, hepatic, and gastrointestinal as well as autonomic and peripheral nerve involvement with amyloidosis. The patients in our series are of Caucasian background and include a 69-year-old female, a 29-year-old female, a 68-year-old male, and a 70-year-old male, respectively. The case discussions highlight variability in presentation and diagnostic challenges.
CONCLUSIONS
Amyloidosis is a rare but serious disease that is often complicated by long delays in diagnosis. Morbidity and mortality can sometimes be limited if diagnosed earlier. We hope our real life cases will contribute to understanding and to early suspicion that can lead to early diagnosis and management.
Topics: Male; Female; Humans; Aged; Adult; Amyloidosis; Immunoglobulin Light-chain Amyloidosis; Paraproteinemias; Heart
PubMed: 37081462
DOI: 10.1186/s13256-023-03886-1 -
JAMA Cardiology Jan 2020
Topics: Cardiomyopathies; Gastrointestinal Diseases; Heart Failure; Humans; Ileus; Immunoglobulin Light-chain Amyloidosis; Male; Medicine in Literature; Middle Aged; Multiple Myeloma; Pain; Peripheral Nervous System Diseases; Physician-Patient Relations; Terminally Ill
PubMed: 31774453
DOI: 10.1001/jamacardio.2019.4545 -
Cardiovascular & Hematological... 2020The estimated prevalence of AL CA in the US is approximately 8-12 cases per million. Almost 30-50% diagnosed cases of AL amyloid in the US have multisystem involvement,... (Review)
Review
The estimated prevalence of AL CA in the US is approximately 8-12 cases per million. Almost 30-50% diagnosed cases of AL amyloid in the US have multisystem involvement, including cardiac involvement. Even with the availability of advanced diagnostic testing and novel therapies, prognosis remains poor. It is overlooked as a cause of heart failure with preserved ejection fraction leading to a delay in diagnosis when management options are limited and associated with poor survival outcomes. Therefore, the education of physicians is needed to ensure that it would be highly considered as a differential diagnosis. The purpose of this manuscript is to review the advances in the diagnosis and management of cardiac amyloidosis with the aim of educating colleagues who provide care in the primary care setting. We have summarized the pathogenesis of amyloidosis, its association with plasma cell dyscrasias, novel diagnostic and surveillance approaches including echocardiography, cardiovascular magnetic resonance imaging, histopathologic techniques, systemic biomarkers, and advanced treatment approaches including supportive symptomatic management and standard of care chemotherapy targeting the amyloid deposits. Given the overall poor prognosis of amyloidosis, we have also discussed the role of palliative and hospice care.
Topics: Animals; Biomarkers; Disease Management; Echocardiography; Heart Diseases; Humans; Immunoglobulin Light-chain Amyloidosis; Magnetic Resonance Imaging; Myocardium; Paraproteinemias
PubMed: 33256586
DOI: 10.2174/1871529X20666201130110036 -
Annals of Medicine Dec 2023Amyloid light chain (AL) amyloidosis is the most common systemic amyloidosis. The objective of this scoping review was to map the available literature on the diagnosis... (Review)
Review
BACKGROUND
Amyloid light chain (AL) amyloidosis is the most common systemic amyloidosis. The objective of this scoping review was to map the available literature on the diagnosis of AL amyloidosis in China.
MATERIALS AND METHODS
The published academic papers related to the diagnosis of AL amyloidosis were screened from 1 January 2000 to 15 September 2021. Chinese patients who have suspected AL amyloidosis were included. The included studies were categorized into accuracy studies and descriptive studies based on if the studies supplied the diagnostic accuracy data or not. The information on the diagnostic methods reported by included studies was synthesized.
RESULTS
Forty-three articles were included for the final scoping review, with 31 belonging to descriptive studies and 12 having information on diagnostic accuracy. Although cardiac involvement was second top in Chinese patients with AL amyloidosis, a cardiac biopsy was rare. Next, we found light chain classification and monoclonal (M-) protein identification were essential methods for the diagnosis of AL amyloidosis in China. In addition, some combined tests (e.g. immunohistochemistry and serum free light chain, immunohistochemistry and immunofixation electrophoresis, and serum free light chain and immunofixation electrophoresis) can increase the sensitivity of the diagnosis. Finally, several adjuvant methods (e.g. Imaging, N-terminal-pro hormone BNP, and brain natriuretic peptide test) were important for AL amyloidosis diagnosis.
CONCLUSION
This scoping review details the characteristics and results of the recently published studies on diagnosing AL Amyloidosis in China. Biopsy is the most important method for AL Amyloidosis diagnosis in China. In addition, combined tests and some adjuvant methods played essential roles in the diagnosis. Further research is required to determine an acceptable and feasible diagnostic algorithm after symptom onset. INPLASY2022100096KEY MESSAGESThis scoping review details the characteristics and results of the recently published studies on diagnosing Amyloid light chain (AL) Amyloidosis in China.Biopsy is the most important method for AL Amyloidosis diagnosis in China.Combined tests and some adjuvant methods played essential roles in the diagnosis.
Topics: Humans; Adjuvants, Immunologic; Amyloidosis; East Asian People; Immunoglobulin Light-chain Amyloidosis
PubMed: 37387123
DOI: 10.1080/07853890.2023.2227425 -
Current Hematologic Malignancy Reports Jun 2020Light chain (AL) amyloidosis is an insidious progressive disease which results in significant morbidity and inevitable mortality if not diagnosed and treated promptly.... (Review)
Review
PURPOSE OF REVIEW
Light chain (AL) amyloidosis is an insidious progressive disease which results in significant morbidity and inevitable mortality if not diagnosed and treated promptly. This review will highlight recent developments and summarize critical clinical points and updated practice changes for the clinician in 2020.
RECENT FINDINGS
Comparative analyses of staging systems, updated prognostic tools, and treatment response criteria now allow for improved patient stratification and treatment decisions; the role of minimal residual disease in response assessment is still being assessed. Clinical and genetic predictors for long-term survivors have been highlighted. Standard-of-care front-line bortezomib and the integration of anti-CD38 monoclonal antibodies in the relapsed disease have transformed treatment approach in recent years. Various clinical trials in the pipeline include novel anti-plasma cell therapies and therapies directed against amyloid deposits which promise to further advance the treatment landscape. Diagnosis, response assessment, and treatment paradigms for AL amyloidosis have evolved significantly in the past 15 years, translating into superior outcomes and increased chances of long-term survival for AL amyloidosis.
Topics: ADP-ribosyl Cyclase 1; Animals; Antibodies, Monoclonal; Bortezomib; Clinical Decision-Making; Humans; Immunoglobulin Light-chain Amyloidosis; Immunologic Factors; Membrane Glycoproteins; Predictive Value of Tests; Proteasome Inhibitors; Risk Factors; Stem Cell Transplantation; Treatment Outcome
PubMed: 32394186
DOI: 10.1007/s11899-020-00574-5