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Light chain lambda myeloma with fatal AL cardiac amyloidosis in a 21-year-old patient: A case report and review.

ABSTRACT: Multi-organ AL amyloidosis is a therapeutic challenge because of light chain deposits severely damaging the function of concerned organs. Cardiac involvement, which leads to concentric hypertrophy of both ventricles, is particularly severe and leads to poor prognosis regardless of combination chemotherapy. This case pinpoints the relevance of combining clinical, histological, and echocardiographic information in the management of this complex and life-threatening disease.

SUBMITTER: Camus V

PROVIDER: S-EPMC6552948 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature

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Light chain lambda myeloma with fatal AL cardiac amyloidosis in a 21-year-old patient: A case report and review.

Camus Vincent V Dubois Sydney S Thiébaut Pierre-Alain PA Lepretre Stéphane S Lenain Pascal P Picquenot Jean-Michel JM Veresezan Elena-Liana EL François Arnaud A Penther Dominique D Bauer Fabrice F Jaccard Arnaud A Jardin Fabrice F

Clinical case reports 20190507 6

Multi-organ AL amyloidosis is a therapeutic challenge because of light chain deposits severely damaging the function of concerned organs. Cardiac involvement, which leads to concentric hypertrophy of both ventricles, is particularly severe and leads to poor prognosis regardless of combination chemotherapy. This case pinpoints the relevance of combining clinical, histological, and echocardiographic information in the management of this complex and life-threatening disease. ...[more]

PMID: 31183088

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Light Chain (AL) Amyloidosis: The Journey to Diagnosis.

Project description:BACKGROUND:Light chain (AL) amyloidosis is a rare, complex disease associated with significant morbidity and mortality. Delays in diagnosis are common and may have detrimental consequences on patients' prognosis. Too little is known regarding the patient journey to diagnosis. OBJECTIVE:The objective of this study was to describe the patient-reported journey to a correct diagnosis for AL amyloidosis. METHODS:Using a mixed-methods approach, data were collected from clinician (n = 4) and patient (n = 10) interviews and a survey of community-based patients with AL amyloidosis (n = 341). Data were used to document the patient experience between the onset of symptoms and the receipt of a diagnosis. RESULTS:Delays in diagnosis were common. Qualitative and quantitative data indicated that initial symptoms were varied and similar to other more prevalent diseases. Two themes regarding the journey to diagnosis emerged: (1) barriers to an early diagnosis; and (2) the emotional toll of the journey. Time to diagnosis was heavily influenced by how patients interpreted their initial symptoms, whether they sought early medical help, and challenges associated with making differential diagnoses. Survey results indicate that patients with primary cardiac involvement were more likely to receive a delayed diagnosis than those with primary kidney involvement. Patients described mixed emotions associated with the eventual diagnosis of AL amyloidosis. CONCLUSIONS:These data support a need for better early identification and support for patients seeking a diagnosis. Increasing clinician awareness may reduce the time to diagnosis. Additional research is needed to identify optimal diagnostic testing to reduce delays in treatment initiation and subsequent severe impacts on health.

| S-EPMC5845075 | biostudies-literature

Daratumumab in the Treatment of Light-Chain (AL) Amyloidosis.

Project description:Systemic light-chain (AL) amyloidosis is caused by a small B cell, most commonly a plasma cell (PC), clone that produces toxic light chains (LC) that cause organ dysfunction and deposits in tissues. Due to the production of amyloidogenic, misfolded LC, AL PCs display peculiar biologic features. The small, indolent plasma cell clone is an ideal target for anti-CD38 immunotherapy. A recent phase III randomized study showed that in newly diagnosed patients, the addition of daratumumab to the standard of care increased the rate and depth of the hematologic response and granted more frequent organ responses. In the relapsed/refractory setting, daratumumab alone or as part of combination regimens gave very promising results. It is likely that daratumumab-based regimens will become new standards of care in AL amyloidosis. Another anti-CD38 monoclonal antibody, isatuximab, is at an earlier stage of development as a treatment for AL amyloidosis. The ability to target CD38 on the amyloid PC offers new powerful tools to treat AL amyloidosis. Future studies should define the preferable agents to combine with daratumumab upfront and in the rescue setting and assess the role of maintenance. In this review, we summarize the rationale for using anti-CD38 antibodies in the treatment of AL amyloidosis.

| S-EPMC7998921 | biostudies-literature

Lambda light chain knockdown in ALMC1 human myeloma cells

Project description:We used siRNA to knockdown lambda light chain expression in ALMC1 cells that express an intact IgG lambda monoclonal protein.

2014-01-30 | GSE54507 | GEO

Lambda light chain knockdown in ALMC1 human myeloma cells

Project description:We used siRNA to knockdown lambda light chain expression in ALMC1 cells that express an intact IgG lambda monoclonal protein. We compared knockdown cells to cells treated with control siRNA.

2014-01-30 | E-GEOD-54507 | biostudies-arrayexpress

Differences in immunoglobulin light chain species found in urinary exosomes in light chain amyloidosis (Al).

Project description:Renal involvement is a frequent consequence of plasma cell dyscrasias. The most common entities are light chain amyloidosis, monoclonal immunoglobulin deposition disease and myeloma cast nephropathy. Despite a common origin, each condition has its own unique histologic and pathophysiologic characteristic which requires a renal biopsy to distinguish. Recent studies have shown urinary exosomes containing kidney-derived membrane and cytosolic proteins that can be used to probe the proteomics of the entire urinary system from the glomerulus to the bladder. In this study, we analyzed urine exosomes to determine the differences between exosomes from patients with light chain amyloidosis, multiple myeloma, monoclonal gammopathy of undetermined significance, and non-paraproteinemia related kidney disease controls. In patients with light chain amyloidosis, multiple myeloma and monoclonal gammopathy of undetermined significance, immunoreactive proteins corresponding to monomeric light chains were found in exosomes by western blot. In all of the amyloidosis samples with active disease, high molecular weight immunoreactive species corresponding to a decamer were found which were not found in exosomes from the other diseases or in amyloidosis exosomes from patients in remission. Few or no light chains monomeric bands were found in non-paraproteinemia related kidney disease controls. Our results showed that urinary exosomes may have tremendous potential in furthering our understanding of the pathophysiology and diagnosis of plasma cell dyscrasia related kidney diseases.

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Clinical trials evaluating potential therapies for light chain (AL) amyloidosis.

Project description:IntroductionThe field of systemic amyloidosis is experiencing major advances in diagnostic and prognostic methods coupled with a growing availability in treatment options.Areas coveredTreatment of AL amyloidosis traditionally targeted the clonal plasma cells, in order to block further production of amyloidogenic light chains. Currently, a research focus is placed on targeting the already formed amyloid deposits using monoclonal antibodies against epitopes on such deposits. Encouraging results were obtained from the three investigated antibodies: NEOD001, 11-1F4 and anti-SAP, but further validation is required before these antibodies can be commercialized. In this paper, we review the current active clinical research in AL amyloidosis, which includes the monoclonal antibodies targeting amyloid deposits, daratumumab, Venetoclax, doxycycline, green tea, pomalidomide, carfilzomib and ixazomib.Expert opinionMonoclonal antibodies, targeting either the amyloid deposits or the plasma cell compartment will likely be integrated into routine treatment practice given their encouraging results and minimal toxicity in the fragile population of AL amyloidosis. Other therapeutic options hold promise to the field as well, but toxicity will likely challenge their routine use. Early recognition remains the best option for outcome enhancement.

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Dysphagia unveiling systemic immunoglobulin light-chain amyloidosis with multiple myeloma.

Project description:Dysphagia is an uncommon presentation of systemic immunoglobulin light-chain (AL) amyloidosis with multiple myeloma (MM). Gastrointestinal (GI) involvement usually manifests with altered motility, malabsorption or bleeding. Furthermore, patients identified with GI amyloidosis, without previous diagnosis of a plasma cell disorder, are extremely rare. We report an elderly woman who presented with acute on chronic cardiac dysfunction, sick sinus syndrome and acute renal failure. While admitted, she developed intermittent dysphagia to both solids and liquids. Oesophagogastroduodenoscopy showed ulcerations of oesophagus and duodenum. Biopsies revealed focal amyloid deposition, stained with Congo red. Renal biopsy revealed amyloid deposition in renal arterioles. She underwent a bone marrow biopsy confirming MM, represented by more than 15% plasma cell population. She was started on treatment for heart failure, induction chemotherapy for MM and percutaneous gastrostomy tube for feeding. However, she continued to deteriorate, eventually opting for hospice, and ultimately died 2?days after discharge from hospital.

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AL amyloid fibril from a lambda 1 light chain

Project description: Not available

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AL amyloid fibril from a lambda 3 light chain

Project description: Not available

| EMPIAR-10457 | biostudies-other

Treatment Options For Relapsed/refractory Systemic Light-Chain (AL) Amyloidosis: Current Perspectives.

Project description:Systemic immunoglobulin light chain (AL) amyloidosis is a disorder characterized by the production of clonal serum free light chains that misfold, aggregate, and deposit in vital organs. Treatment of this disease is typically targeted at the abnormal plasma cell clone in the bone marrow which is the source of the amyloidogenic light chain. First-line therapies in this disease are well established, but in the relapsed or refractory setting, there are many treatment options, including immunomodulatory agents, proteasome inhibitors, alkylating agents, and monoclonal antibodies. Decisions regarding treatment choice should be made by a multidisciplinary team with consideration of the patient's functional status, disease stage, degree of organ dysfunction, and potential treatment toxicities. Herein we review the current treatment options available for patients with relapsed or refractory AL amyloidosis.

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