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Journal of Clinical Rheumatology :... Jun 2017
Topics: Diagnosis, Differential; Female; Humans; Immunoglobulin Light-chain Amyloidosis; Immunoglobulin kappa-Chains; Immunohistochemistry; Middle Aged; Orbital Diseases; Skin
PubMed: 28489622
DOI: 10.1097/RHU.0000000000000545 -
BMJ Case Reports Feb 2024Spinal involvement in primary amyloidosis is an exceedingly rare condition, presenting with typical pathological fracture symptoms that are often indistinguishable from...
Spinal involvement in primary amyloidosis is an exceedingly rare condition, presenting with typical pathological fracture symptoms that are often indistinguishable from other pathologies such as bone metastasis, metabolic disorders and infections. Histopathological studies for tissue diagnosis are the cornerstone of a definitive diagnosis, leading to successful treatment. Early diagnosis and intervention play a pivotal role in the care of patients with amyloidosis. Here, we present a unique case of a pathological fracture in the L4 vertebra following minor trauma. This fracture manifested with pain, instability and limitations in daily activities in a patient who had already been diagnosed with systemic amyloidosis and was undergoing chemotherapy. This case represents a distinct instance of vertebral involvement in amyloidosis and was managed with both chemotherapy and surgical intervention to address the spinal pathology, resulting in favourable outcomes.
Topics: Humans; Fractures, Spontaneous; Immunoglobulin Light-chain Amyloidosis; Spinal Fractures; Amyloidosis; Lumbar Vertebrae
PubMed: 38388204
DOI: 10.1136/bcr-2023-258973 -
Muscle & Nerve Sep 2016
Topics: Brachial Plexus; Humans; Hypertrophy; Immunoglobulin Light-chain Amyloidosis; Male; Middle Aged; Peripheral Nervous System Diseases; Spinal Nerve Roots; Ultrasonography
PubMed: 26999802
DOI: 10.1002/mus.25113 -
Hematology/oncology Clinics of North... Dec 2020Amyloid light chain amyloidosis (AL) is the most commonly diagnosed systemic form of amyloidosis, resulting from deposition of amyloid fibrils into various organs, such... (Review)
Review
Amyloid light chain amyloidosis (AL) is the most commonly diagnosed systemic form of amyloidosis, resulting from deposition of amyloid fibrils into various organs, such as the heart. Over the past several decades, significant advances in diagnosis and treatment have reduced overall mortality. Short-term survival, however, has not improved, in large part due to cardiovascular mortality from advanced AL cardiac amyloidosis. Early clinical suspicion of cardiac involvement is critical in order to initiate appropriate treatment and referrals for successful management. This review discusses the current challenges in diagnosis as well as available treatment options for different stages of cardiac involvement.
Topics: Antibodies, Monoclonal; Heart Diseases; Humans; Immunoglobulin Light Chains; Immunoglobulin Light-chain Amyloidosis
PubMed: 33099423
DOI: 10.1016/j.hoc.2020.07.006 -
Journal Francais D'ophtalmologie Mar 2021
Topics: Cornea; Corneal Diseases; Humans; Immunoglobulin Light-chain Amyloidosis; Multiple Myeloma
PubMed: 33172716
DOI: 10.1016/j.jfo.2020.04.042 -
Polish Archives of Internal Medicine Apr 2022
Topics: Amyloidosis; Humans; Immunoglobulin Light-chain Amyloidosis; Prognosis
PubMed: 35076194
DOI: 10.20452/pamw.16197 -
Acta Haematologica 2020The treatment options for systemic light chain amyloidosis (AL) are currently widening in an unprecedented way, brought about by an expanding arsenal of anti-myeloma... (Review)
Review
The treatment options for systemic light chain amyloidosis (AL) are currently widening in an unprecedented way, brought about by an expanding arsenal of anti-myeloma therapy as well as by novel approaches to target toxic light chains and, most recently, deposited amyloid directly. In this context, accurate estimates of prognosis in AL, which allow for reliable patient advice and for example comparison of different therapies, are particularly important to clinicians. Some biomarkers and especially the genetic background of the underlying clonal disease as evaluated by interphase fluorescence in situ hybridization even have predictive value, enabling an appropriate treatment selection. Derived from the most frequently involved organs in AL, heart and kidney, this review focuses on overall survival and renal survival. A comprehensive overview and summary of reported prognostic factors and biomarkers in AL is given and the most important and validated factors are highlighted. Finally, established staging systems in AL as well as validated and perspective response criteria are presented.
Topics: Biomarkers; Disease Management; Disease Susceptibility; Humans; Immunoglobulin Light-chain Amyloidosis; Organ Specificity; Prognosis; Severity of Illness Index
PubMed: 32570242
DOI: 10.1159/000508287 -
The American Journal of Pathology Jan 1949
Topics: Amyloidosis; Humans; Immunoglobulin Light-chain Amyloidosis
PubMed: 18106971
DOI: No ID Found -
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 -
Acta Haematologica 2020Immunoglobulin light chain amyloidosis (AL amyloidosis) is a rare, life-threatening disease characterized by the deposition of misfolded proteins in vital organs such as... (Review)
Review
Immunoglobulin light chain amyloidosis (AL amyloidosis) is a rare, life-threatening disease characterized by the deposition of misfolded proteins in vital organs such as the heart, the lungs, the kidneys, the peripheral nervous system, and the gastrointestinal tract. This causes a direct toxic effect, eventually leading to organ failure. The underlying B-cell lymphoproliferative disorder is almost always a clonal plasma cell disorder, most often a small plasma cell clone of <10%. Current therapy is directed toward elimination of the plasma cell clone with the goal of preventing further organ damage and reversal of the existing organ damage. Autologous stem cell transplantation has been shown to be a very effective treatment in patients with AL amyloidosis, although it cannot be widely applied as patients are often frail at presentation, making them ineligible for transplantation. Treatment with cyclophosphamide, bortezomib, and dexamethasone has emerged as the standard of care for the treatment of AL amyloidosis. Novel anti-plasma cell therapies, such as second generation proteasome inhibitors, immunomodulators, monoclonal antibodies targeting a surface protein on the plasma cell (daratumumab, elotuzumab), and the small molecular inhibitor venetoclax, have continued to emerge and are being evaluated in combination with the standard of care. However, there is still a need for therapies that directly target the amyloid fibrils and reverse organ damage. In this review, we will discuss current and emerging nonchemotherapy treatments of AL amyloidosis, including antifibril directed therapies under current investigation.
Topics: Combined Modality Therapy; Disease Management; Humans; Immunoglobulin Light-chain Amyloidosis; Treatment Outcome
PubMed: 32526750
DOI: 10.1159/000507724