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Kardiologiia Apr 2024To estimate the prevalence of amyloid cardiomyopathy (CM) caused by transthyretin amyloidosis (ATTR) and immunoglobulin light chain (AL) amyloidosis among patients aged...
AIM
To estimate the prevalence of amyloid cardiomyopathy (CM) caused by transthyretin amyloidosis (ATTR) and immunoglobulin light chain (AL) amyloidosis among patients aged >65 years with interventricular septal (IVS) hypertrophy of ≥14 mm.
MATERIAL AND METHODS
From January through August 2023, 60 patients (mean age 7.2±7.3 years, 34 (56.67%) men) were enrolled. Patients meeting the inclusion criteria underwent an echocardiographic study with determining the myocardial longitudinal strain, myocardial scintigraphy with 99mTc-pyrfotech, myocardial single-photon emission computed tomography, measurement of N-terminal fragment of brain natriuretic peptide and troponin I, and the immunochemical study of serum and urine proteins with measurement of free light chains. In the presence of grades 2 and 3 radiopharmaceutical uptake according to scintigraphy, a molecular genetic study was performed for differential diagnosis of wild-type transthyretin amyloidosis (wtATTR) and hereditary/variant (hATTR) ATTR-CM.
RESULTS
According to data of myocardial scintigraphy with 99mTc-pyrfotech, grade 3 uptake in the absence of monoclonal secretion was detected in 5 (8.3%) cases and grade 2 radiotracer uptake in the absence of monoclonal secretion was detected in 6 (10%) patients. Myeloma complicated by AL amyloidosis and primary AL amyloidosis were found in 5 (8.3%) patients.
CONCLUSION
Among patients aged ≥65 years with IVS hypertrophy ≥14 mm, amyloid CM was detected in 20% of cases (12 patients), including 5 cases (8.3%) of AL amyloidosis and 7 cases (11.7%) of ATTR amyloidosis.
Topics: Humans; Male; Female; Russia; Aged; Amyloid Neuropathies, Familial; Prevalence; Hypertrophy, Left Ventricular; Echocardiography; Immunoglobulin Light-chain Amyloidosis; Tomography, Emission-Computed, Single-Photon; Cardiomyopathies
PubMed: 38742516
DOI: 10.18087/cardio.2024.4.n2611 -
Journal of Ayub Medical College,... 2022Amyloidosis is characterised by the deposition of fibrillar insoluble proteinaceous material called amyloid in the extracellular spaces. It may present as localized form...
Amyloidosis is characterised by the deposition of fibrillar insoluble proteinaceous material called amyloid in the extracellular spaces. It may present as localized form which is rare and systemic form. Systemic amyloidosis involves many organs like kidney, heart and liver. Manifestations of both types may vary based on the age of onset, degree and extension of the deposition. Understandably, the diagnosis is challenging but the early identification of the condition and the type of amyloidosis can increase the efficiency of treatment. Positive Congo red staining is the gold standard for demonstration of amyloid in tissue sections. Here we are presenting a case of a 77-year-old female patient who presented with the complaint of difficulty in swallowing for 2 years due to bilateral symmetrical enlargement of the tongue which was subsequently diagnosed as systemic amyloidosis.
Topics: Aged; Amyloidosis; Female; Humans; Immunoglobulin Light-chain Amyloidosis; Macroglossia; Tongue
PubMed: 35466653
DOI: 10.55519/JAMC-01-9317 -
Hematology/oncology Clinics of North... Dec 2020Peripheral nervous system involvement in primary systemic amyloidosis is another important organ involvement in the spectrum of this disease entity. Early recognition... (Review)
Review
Peripheral nervous system involvement in primary systemic amyloidosis is another important organ involvement in the spectrum of this disease entity. Early recognition may lead to an earlier diagnosis and treatment with improvement in prognosis.
Topics: Humans; Immunoglobulin Light-chain Amyloidosis; Peripheral Nervous System; Peripheral Nervous System Diseases
PubMed: 33099426
DOI: 10.1016/j.hoc.2020.07.004 -
The American Journal of Cardiology Dec 2021Cardiac amyloidosis is an important clinical entity associated with significant morbidity and mortality. Although the signs and symptoms can be apparent early in the...
Cardiac amyloidosis is an important clinical entity associated with significant morbidity and mortality. Although the signs and symptoms can be apparent early in the disease course, diagnoses are often made late because of inadequate recognition. A diagnosis of cardiac amyloidosis requires careful scrutiny of a patient's symptoms, an electrocardiogram, and imaging studies, including echocardiography and magnetic resonance imaging. Further evaluation is required through the measurement of serum and urine light chains and the use of bone scintigraphy imaging to differentiate transthyretin amyloidosis from light-chain cardiac amyloidosis. The available treatments have expanded tremendously in recent years and have improved outcomes in the population with this disorder. Thus, it has become increasingly important to diagnose cardiac amyloidosis and provide timely therapies. This article will clarify the various misconceptions about cardiac amyloidosis and provide a framework for primary care providers to better identify this disease in their practice.
Topics: Amyloid Neuropathies, Familial; Amyloidosis; Aniline Compounds; Assisted Circulation; Atrial Fibrillation; Cardiac Imaging Techniques; Cardiomyopathies; Diagnosis, Differential; Echocardiography; Electrocardiography; Ethylene Glycols; Humans; Immunoglobulin Light-chain Amyloidosis; Magnetic Resonance Imaging; Positron-Emission Tomography; Radiopharmaceuticals; Stilbenes
PubMed: 34610875
DOI: 10.1016/j.amjcard.2021.08.045 -
Hematology. American Society of... Dec 2021Systemic light chain (AL) amyloidosis is a protein misfolding disorder characterized by the deposition of abnormal immunoglobulin light chains in fibrillary aggregates,... (Review)
Review
Systemic light chain (AL) amyloidosis is a protein misfolding disorder characterized by the deposition of abnormal immunoglobulin light chains in fibrillary aggregates, resulting in end-organ damage. Several unique challenges face treating physicians, including delayed diagnosis, advanced vital organ involvement, and morbidity with treatment. Aggressive supportive care and risk-adapted application of plasma cell-directed therapies are the cornerstones of management. The therapeutic revolution in multiple myeloma will likely further expand the arsenal against plasma cells. Careful investigation of these agents will be critical to establish their role in this fragile population. The promise of fibril-directed therapies to restore organ function remains despite early disappointments. In this review, we discuss new therapies to tackle AL amyloidosis using a case-based approach.
Topics: Antibodies, Monoclonal; Antineoplastic Combined Chemotherapy Protocols; Cyclophosphamide; Dexamethasone; Disease Management; Humans; Immunoglobulin Light Chains; Immunoglobulin Light-chain Amyloidosis; Male; Middle Aged; Teniposide
PubMed: 34889374
DOI: 10.1182/hematology.2021000305 -
Hematology/oncology Clinics of North... Dec 2020Opportunities and challenges in the field of systemic amyloidosis can be grouped into 4 categories. First, a deeper understanding of the pathogenesis of the disease is... (Review)
Review
Opportunities and challenges in the field of systemic amyloidosis can be grouped into 4 categories. First, a deeper understanding of the pathogenesis of the disease is required. Second, a greater awareness of the disease, which will lead to an earlier diagnosis, is imperative. Third, end points for interventional trials are required to convey us to our fourth aspirations, which are novel therapies for patients with light chain amyloidosis.
Topics: Clinical Trials as Topic; Humans; Immunoglobulin Light-chain Amyloidosis
PubMed: 33099434
DOI: 10.1016/j.hoc.2020.08.009 -
Therapeutic Apheresis and Dialysis :... Apr 2016
Topics: Amyloidosis; Female; Humans; Immunoglobulin Light-chain Amyloidosis; Pregnancy; Pregnancy Complications; Proteinuria; Young Adult
PubMed: 26948165
DOI: 10.1111/1744-9987.12374 -
The Korean Journal of Internal Medicine May 2021
Topics: Amyloidosis; Gastrointestinal Hemorrhage; Humans; Immunoglobulin Light-chain Amyloidosis
PubMed: 32731685
DOI: 10.3904/kjim.2020.169 -
BMJ Case Reports Jul 2018We report the case of a 46-year-old man who initially presented with macroscopic haematuria. Although initially concerning for a malignancy in the bladder, histology...
We report the case of a 46-year-old man who initially presented with macroscopic haematuria. Although initially concerning for a malignancy in the bladder, histology demonstrated a primary bladder amyloidosis that has remained stable for 6 years since the initial diagnosis. Primary bladder amyloidosis is an important clinical entity that can mimic bladder malignancy on clinical history, radiological investigation and cystoscopic evaluation. Although uncommon, it should not be neglected as a possible diagnosis in patients presenting with haematuria.
Topics: Biopsy; Conservative Treatment; Hematuria; Humans; Immunoglobulin Light-chain Amyloidosis; Male; Middle Aged; Tomography, X-Ray Computed; Urinary Bladder Diseases
PubMed: 30021741
DOI: 10.1136/bcr-2018-225414 -
Acta Haematologica 2020The vast majority of patients with light-chain (AL) amyloidosis are not eligible for stem cell transplant and are treated with conventional chemotherapy. Conventional... (Review)
Review
The vast majority of patients with light-chain (AL) amyloidosis are not eligible for stem cell transplant and are treated with conventional chemotherapy. Conventional regimens are based on various combinations of dexamethasone, alkylating agents, proteasome inhibitors, and immunomodulatory drugs. The choice of these regimens requires a careful risk stratification, based on the extent of amyloid organ involvement, comorbidities, and the characteristics of the amyloidogenic plasma cell clone. Most patients are treated upfront with bortezomib and dexamethasone combined with cyclophosphamide or melphalan. Cyclophosphamide does not compromise stem cell mobilization and harvest and is more manageable in renal failure. Melphalan can overcome the effect of t(11;14), which is associated with lower response rates and shorter survival in subjects treated with bortezomib and dexamethasone, or in combination with cyclophosphamide. Lenalidomide and pomalidomide are the mainstay of rescue treatment. They are effective in patients exposed to bortezomib, dexamethasone, and alkylators, but deep hematologic responses are rare. Ixazomib, alone or in combination with lenalidomide, increases the rate of complete responses in relapsed/refractory patients. Conventional chemotherapy regimens will represent the backbone for future combinations, particularly with anti-plasma-cell immunotherapy, that will further improve response rates and outcomes.
Topics: Biomarkers; Combined Modality Therapy; Disease Management; Disease Susceptibility; Humans; Immunoglobulin Light-chain Amyloidosis; Recurrence; Risk Factors; Treatment Outcome
PubMed: 32353854
DOI: 10.1159/000507072