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Internal Medicine (Tokyo, Japan) 2022A 70-year-old woman with complaints of edema, general malaise, and hypotension was diagnosed with renal amyloidosis, and laser microdissection mass spectrometry revealed...
A 70-year-old woman with complaints of edema, general malaise, and hypotension was diagnosed with renal amyloidosis, and laser microdissection mass spectrometry revealed her amyloidosis to predominantly comprise the apolipoprotein A-IV type. The M-protein turned from negative to positive during the course, and a bone marrow biopsy showed smoldering myeloma. Treatment with bortezomib and dexamethasone failed to save her from heart failure six months after the onset. Western blotting of urine samples at the time of the renal biopsy showed that amyloid light-chain κ amyloidosis had been present since the onset. Unlike the myeloma, Congo red staining was positive in the plasma cells of the bone marrow.
Topics: Aged; Amyloidosis; Apolipoproteins A; Female; Humans; Immunoglobulin Light-chain Amyloidosis; Multiple Myeloma
PubMed: 35296622
DOI: 10.2169/internalmedicine.7955-21 -
Methodist DeBakey Cardiovascular Journal 2022Amyloidosis encompasses a collection of disorders of pathological protein folding. The extracellular location where these "amyloid fibril" proteins are deposited... (Review)
Review
Amyloidosis encompasses a collection of disorders of pathological protein folding. The extracellular location where these "amyloid fibril" proteins are deposited determines the clinical presentation of the disease. The abnormal architecture of these fibrils makes them insoluble and not easily removed, leading to disruption of normal tissue structure and interference with normal physiology. Amyloidosis of the heart and kidney can be inherited, secondary to unrelated diseases, or due to a plasma cell disorder. This review will focus on immunoglobulin light chain amyloidosis, which is life-threatening and must be diagnosed as early as possible by employing precise and accurate typing to ensure timely and frequently curative therapy.
Topics: Amyloid; Amyloidosis; Heart; Humans; Immunoglobulin Light-chain Amyloidosis; Kidney
PubMed: 36132587
DOI: 10.14797/mdcvj.1150 -
Journal of Gastrointestinal and Liver... Jun 2022
Topics: Acute Disease; Humans; Immunoglobulin Light-chain Amyloidosis; Intestinal Obstruction; Intestinal Pseudo-Obstruction
PubMed: 35694991
DOI: 10.15403/jgld-4336 -
Journal of Clinical Pathology Aug 1956
Topics: Amyloidosis; Humans; Immunoglobulin Light-chain Amyloidosis; Neoplasms, Plasma Cell
PubMed: 13357618
DOI: 10.1136/jcp.9.3.187 -
Hematology/oncology Clinics of North... Dec 2020
Topics: History, 19th Century; History, 20th Century; History, 21st Century; Humans; Immunoglobulin Light-chain Amyloidosis
PubMed: 33099437
DOI: 10.1016/j.hoc.2020.08.008 -
Current Heart Failure Reports Dec 2019Amyloidosis represents an increasingly recognized but still frequently missed cause of heart failure. In the light of many effective therapies for light chain (AL)... (Review)
Review
PURPOSE
Amyloidosis represents an increasingly recognized but still frequently missed cause of heart failure. In the light of many effective therapies for light chain (AL) amyloidosis and promising new treatment options for transthyretin (ATTR) amyloidosis, awareness among caregivers needs to be raised to screen for amyloidosis as an important and potentially treatable differential diagnosis. This review outlines the diversity of cardiac amyloidosis, its relation to heart failure, the diagnostic algorithm, and therapeutic considerations that should be applied depending on the underlying type of amyloidosis.
RECENT FINDINGS
Non-biopsy diagnosis is feasible in ATTR amyloidosis in the absence of a monoclonal component resulting in higher detection rates of cardiac ATTR amyloidosis. Biomarker-guided staging systems have been updated to facilitate risk stratification according to currently available biomarkers independent of regional differences, but have not yet prospectively been tested. Novel therapies for hereditary and wild-type ATTR amyloidosis are increasingly available. The complex treatment options for AL amyloidosis are improving continuously, resulting in better survival and quality of life. Mortality in advanced cardiac amyloidosis remains high, underlining the importance of early diagnosis and treatment initiation. Cardiac amyloidosis is characterized by etiologic and clinical heterogeneity resulting in a frequently delayed diagnosis and an inappropriately high mortality risk. New treatment options for this hitherto partially untreatable condition have become and will become available, but raise challenges regarding their implementation. Referral to specialized centers providing access to extensive and targeted diagnostic investigations and treatment initiation may help to face these challenges.
Topics: Algorithms; Amyloidosis; Cardiac Imaging Techniques; Cardiomyopathies; Heart Failure; Humans; Immunoglobulin Light-chain Amyloidosis
PubMed: 31782077
DOI: 10.1007/s11897-019-00446-x -
Giornale Italiano Di Nefrologia :... Oct 2023Immunoglobulin Light Chain Amyloidosis (AL) is a progressive disease which leads to organ dysfunction and death. Tremendous progress has been made in staging, response,... (Review)
Review
Immunoglobulin Light Chain Amyloidosis (AL) is a progressive disease which leads to organ dysfunction and death. Tremendous progress has been made in staging, response, and treatment. The key to better survival though is early diagnosis which can be difficult since the symptoms are often nonspecific and can be seen in more common conditions. Once the diagnosis is confirmed, staging systems are available to provide prognosis on overall and renal survival. There are a number of treatments now available that are effective and well-tolerated. Response criteria have also been developed for hematologic and renal response in order to maximize response and minimize adverse effects. Newer therapies are being developed in particular anti-fibril therapies that are in clinical trials. For those patients who had a very good partial response or better, kidney transplantation may be an option if the kidney failure is not reversed.
Topics: Humans; Immunoglobulin Light Chains; Amyloidosis; Immunoglobulin Light-chain Amyloidosis; Kidney; Kidney Transplantation
PubMed: 38007836
DOI: No ID Found -
Canadian Medical Association Journal Sep 1955
Topics: Amyloidosis; Humans; Immunoglobulin Light-chain Amyloidosis; Multiple Myeloma
PubMed: 13250480
DOI: No ID Found -
The Indian Medical Gazette Dec 1950
Topics: Amyloidosis; Humans; Immunoglobulin Light-chain Amyloidosis; Multiple Myeloma
PubMed: 14813818
DOI: No ID Found -
Brain and Nerve = Shinkei Kenkyu No... May 2024AL amyloidosis, derived from amyloidogenic immunoglobulin light chains, is a common type of systemic amyloidosis. Peripheral neuropathy has been identified in 10%-40% of... (Review)
Review
AL amyloidosis, derived from amyloidogenic immunoglobulin light chains, is a common type of systemic amyloidosis. Peripheral neuropathy has been identified in 10%-40% of patients with systemic AL amyloidosis. Definitive diagnosis requires tissue biopsies, including skin, fat, and gastrointestinal samples, as well as amyloid typing. Disease-modifying therapies have been shown to improve patient survival and prevent progressive organ dysfunction.
Topics: Humans; Amyloidosis; Immunoglobulin Light-chain Amyloidosis; Immunoglobulin Light Chains
PubMed: 38741500
DOI: 10.11477/mf.1416202647