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Acta Haematologica 2020
Topics: Amyloidosis; Disease Management; Humans; Treatment Outcome
PubMed: 32668431
DOI: 10.1159/000509736 -
Biomedical Papers of the Medical... Jun 2017Amyloidosis is a heterogeneous group of diseases characterized by the deposition of amyloid. It is caused by extracellular deposition of insoluble fibrils with...
Amyloidosis is a heterogeneous group of diseases characterized by the deposition of amyloid. It is caused by extracellular deposition of insoluble fibrils with beta-pleated sheet configuration. The protein misfolding abnormalities result in amyloid fibrils and may manifest as primary, secondary, or familial amyloidosis. Amyloid deposition can occur in multiple organs (eg, heart, liver, kidney, skin, eyes, lungs, nervous system) resulting in a variety of clinical manifestations. Cardiac involvement can occur as part of a systemic disease or as a localized phenomenon. Cardiac involvement in all types of amyloidosis represents a major negative prognostic factor. Early diagnosis, multi-disciplinary cooperation and proper therapy are key aspects of care for patients with amyloid cardiomyopathy. Early diagnosis is crucial, especially in AL amyloidosis, as patients with advanced heart disease are unsuitable candidates for modern, effective hematological treatment including autologous stem cell transplantation. Despite signal development in diagnostics and therapy, the prognosis for patients with advanced cardiac involvement remains poor. This article is an overview of amyloidosis, providing information about the characteristics of cardiac amyloidosis, and present a structured approach to diagnosis, treatment and prognosis of this condition.
Topics: Amyloidosis; Cardiomyopathies; Early Diagnosis; Female; Humans; Male; Prognosis; Treatment Outcome
PubMed: 28145535
DOI: 10.5507/bp.2017.001 -
Annual Review of Biochemistry 2013The amyloidoses are a group of protein misfolding diseases in which the precursor protein undergoes a conformational change that triggers the formation of amyloid... (Review)
Review
The amyloidoses are a group of protein misfolding diseases in which the precursor protein undergoes a conformational change that triggers the formation of amyloid fibrils in different tissues and organs, causing cell death and organ failure. Amyloidoses can be either localized or systemic. In localized amyloidosis, amyloid deposits form at the site of precursor protein synthesis, whereas in systemic amyloidosis, amyloid deposition occurs distant from the site of precursor protein secretion. We review the type of proteins and cells involved and what is known about the complex pathophysiology of these diseases. We focus on light chain amyloidosis to illustrate how biochemical and biophysical studies have led to a deeper understanding of the pathogenesis of this devastating disease. We also review current cellular, tissue, and animal models and discuss the challenges and opportunities for future studies of the systemic amyloidoses.
Topics: Amyloid; Amyloidosis; Animals; Disease Models, Animal; Humans; Immunoglobulin Light Chains; Protein Folding; Protein Precursors
PubMed: 23451869
DOI: 10.1146/annurev-biochem-072611-130030 -
European Journal of Heart Failure Dec 2022
Topics: Humans; Heart Failure; Amyloidosis; Cardiomyopathies
PubMed: 36093633
DOI: 10.1002/ejhf.2685 -
Chronic Respiratory Disease 2006Amyloidosis is a disorder of protein folding in which normally soluble plasma proteins aggregate in an abnormal fibrillar form causing progressive disruption to tissue... (Review)
Review
Amyloidosis is a disorder of protein folding in which normally soluble plasma proteins aggregate in an abnormal fibrillar form causing progressive disruption to tissue structure and organ function. This review covers systemic AA and AL amyloidosis which may arise as a consequence of chronic respiratory conditions; the manifestations of both systemic and of localised amyloid deposition within the respiratory tract and provides a summary of current approaches to diagnosis and management.
Topics: Amyloidosis; Humans; Lung; Lung Diseases; Radiography
PubMed: 17190124
DOI: 10.1177/1479972306070066 -
Romanian Journal of Internal Medicine =... Mar 2023Transthyretin cardiac amyloidosis is a progressive disease known to cause heart failure, conduction anomalies, and arrythmias. Due to poor outcomes and mortality from... (Review)
Review
Transthyretin cardiac amyloidosis is a progressive disease known to cause heart failure, conduction anomalies, and arrythmias. Due to poor outcomes and mortality from severe cardiomyopathy, prevalence and incident rates are often underreported. As global longevity is increasing and rates of amyloidosis are also increasing, there is a need to improve diagnostic and therapeutic interventions. Previously, symptom management and transplantation were the mainstay of treatment for heart failure symptoms, but studies using RNAi and siRNA technologies have shifted the paradigm of therapeutic strategy in amyloid cardiomyopathy management. Additionally, early detection and clinical monitoring with numerous imaging and non-imaging techniques are being increasingly investigated. Here, we review the epidemiology, pathophysiology, diagnosis, and management of transthyretin amyloid cardiomyopathy.
Topics: Humans; Amyloidosis; Arrhythmias, Cardiac; Cardiomyopathies; Heart Failure; Prealbumin
PubMed: 36278951
DOI: 10.2478/rjim-2022-0018 -
ESC Heart Failure Feb 2022The assessment of both thromboembolic and haemorrhagic risks and their management in systemic amyloidosis have been poorly emphasized so far. This narrative review... (Review)
Review
The assessment of both thromboembolic and haemorrhagic risks and their management in systemic amyloidosis have been poorly emphasized so far. This narrative review summarizes main evidence from literature with clinical perspective. The rate of thromboembolic events is as high as 5-10% amyloidosis patients, at least in patients with cardiac involvement, with deleterious impact on prognosis. The most known pro-thrombotic factors are heart failure, atrial fibrillation, and atrial myopathy. Atrial fibrillation could occur in 20% to 75% of systemic amyloidosis patients. Cardiac thrombi are frequently observed in patients, particularly in immunoglobulin light chains (AL) amyloidosis, up to 30%, and it is advised to look for them systematically before cardioversion. In AL amyloidosis, nephrotic syndrome and the use of immunomodulatory drugs also favour thrombosis. On the other hand, the bleeding risk increases because of frequent amyloid digestive involvement as well as factor X deficiency, renal failure, and increased risk of dysautonomia-related fall.
Topics: Amyloid; Amyloidosis; Heart Failure; Humans; Immunoglobulin Light-chain Amyloidosis; Thromboembolism
PubMed: 34784656
DOI: 10.1002/ehf2.13701 -
The Mount Sinai Journal of Medicine,... 2012Peripheral neuropathy is a common complication of many of the systemic amyloidoses. Although the cause of neuropathy is not entirely clear, it is likely related to... (Review)
Review
Peripheral neuropathy is a common complication of many of the systemic amyloidoses. Although the cause of neuropathy is not entirely clear, it is likely related to amyloid deposition within the nerve. This may lead to focal, multifocal, or diffuse neuropathies involving sensory, motor and/or autonomic fibers. The presenting symptoms depend on the distribution of nerves affected. One of the most common phenotypes is sensorimotor polyneuropathy, which is characterized by symptoms of neuropathic pain, numbness, and in advanced cases weakness. Symptoms begin in the feet and ultimately progress to the proximal legs and hands. The most common focal neuropathy is a median neuropathy at the wrist, clinically known as carpal tunnel syndrome. Carpal tunnel symptoms may include pain and sensory disturbances in the lateral palm and fingers; hand weakness may ensue if the focal neuropathy is severe. Autonomic neuropathy may affect a variety of organ systems such as the cardiovascular, gastrointestinal, and genitourinary systems. Symptoms may be non-specific making the diagnosis of autonomic neuropathy more difficult to identify. However, it is important to recognize and distinguish autonomic neuropathy from diseases of the end-organs themselves. This article reviews the inherited and acquired amyloidoses that affect the peripheral nervous system including familial amyloid polyneuropathy, and primary, secondary and senile amyloidosis. We emphasize the clinical presentation of the neurologic aspects of these diseases, physical examination findings, appropriate diagnostic evaluation, treatment and prognosis.
Topics: Age Factors; Amyloid Neuropathies; Amyloid Neuropathies, Familial; Combined Modality Therapy; Humans; Physical Examination; Prognosis; Risk Factors
PubMed: 23239211
DOI: 10.1002/msj.21352 -
Acta Gastro-enterologica Belgica 2022Amyloidosis is a very rare condition, which, due to its rarity, is often missed or diagnosed in an advanced stage of the disease, causing significant morbidity and... (Review)
Review
Amyloidosis is a very rare condition, which, due to its rarity, is often missed or diagnosed in an advanced stage of the disease, causing significant morbidity and mortality. In this review we describe the existing types of amyloidosis focusing on the gastro-intestinal tract. Amyloidosis occurs when abnormal protein fibrils (amyloid) deposit in the muscularis mucosae. This can cause an array of symptoms ranging from (in order of occurrence): gastro-intestinal bleeding, heartburn, unintentional weight loss, early satiety, constipation, diarrhea, nausea, vomiting and fecal incontinence (1). Treatment is focused on the underlying condition (if any) causing the production and deposition of the abnormal fibrils, in combination of symptomatic treatment.
Topics: Amyloidosis; Diarrhea; Gastrointestinal Hemorrhage; Humans; Nausea
PubMed: 35304997
DOI: 10.51821/85.1.8499 -
International Journal of Molecular... Oct 2022Amyloidoses is a group of diseases characterized by the accumulation of abnormal proteins (called amyloids) in different organs and tissues. For systemic amyloidoses,... (Review)
Review
Amyloidoses is a group of diseases characterized by the accumulation of abnormal proteins (called amyloids) in different organs and tissues. For systemic amyloidoses, the disease is related to increased levels and/or abnormal synthesis of certain proteins in the organism due to pathological processes, e.g., monoclonal gammopathy and chronic inflammation in rheumatic arthritis. Treatment of amyloidoses is focused on reducing amyloidogenic protein production and inhibition of its aggregation. Therapeutic approaches critically depend on the type of amyloidosis, which underlines the importance of early differential diagnostics. In fact, the most accurate diagnostics of amyloidosis and its type requires analysis of a biopsy specimen from the disease-affected organ. However, absence of specific symptoms of amyloidosis and the invasive nature of biomaterial sampling causes the late diagnostics of these diseases, which leads to a delayed treatment, and significantly reduces its efficacy and patient survival. The establishment of noninvasive diagnostic methods and discovery of specific amyloidosis markers are essential for disease detection and identification of its type at earlier stages, which enables timely and targeted treatment. This review focuses on current approaches to the diagnostics of amyloidoses, primarily with renal involvement, and research perspectives in order to design new specific tests for early diagnosis.
Topics: Humans; Amyloidosis; Amyloid; Immunoglobulin Light-chain Amyloidosis; Amyloidogenic Proteins; Biocompatible Materials
PubMed: 36293523
DOI: 10.3390/ijms232012662