194 results match your criteria Amyloidosis Overview


Altered Fibrinolysis in Hematological Malignances.

Semin Thromb Hemost 2021 May 31. Epub 2021 May 31.

Department of Clinical Biochemistry, Aarhus University Hospital, Aarhus, Denmark.

Bleeding and thrombosis are well-known complications to hematological malignancies, and changes in fibrinolysis impact both these issues. In the present systematic review, we provide an overview and discussion of the current literature in regards to clinical manifestations, diagnosis, and treatment of altered fibrinolysis in patients suffering from hematological malignancies, beyond acute promyelocytic leukemia. We performed a systematic literature search employing the databases Pubmed, Embase, and Web of Science to identify original studies investigating fibrinolysis in hematological malignancies. Read More

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HFA/HFSA/JHFS Position Statement on Endomyocardial Biopsy.

J Card Fail 2021 Apr 27. Epub 2021 Apr 27.

Cleveland Clinic, Cleveland OH, USA.

Endomyocardial biopsy (EMB) is an invasive procedure, globally most often used for the monitoring of heart transplant (HTx) rejection. In addition, EMB can have an important complementary role to the clinical assessment in establishing the diagnosis of diverse cardiac disorders, including myocarditis, cardiomyopathies, drug-related cardiotoxicity, amyloidosis, other infiltrative and storage disorders, and cardiac tumours. Improvements in EMB equipment and the development of new techniques for the analysis of EMB samples has significantly improved diagnostic precision of EMB. Read More

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Heart Failure Association of the ESC, Heart Failure Society of America and Japanese Heart Failure Society Position statement on endomyocardial biopsy.

Eur J Heart Fail 2021 May 19. Epub 2021 May 19.

Cleveland Clinic, Cleveland, OH, USA.

Endomyocardial biopsy (EMB) is an invasive procedure, globally most often used for the monitoring of heart transplant (HTx) rejection. In addition, EMB can have an important complementary role to the clinical assessment in establishing the diagnosis of diverse cardiac disorders, including myocarditis, cardiomyopathies, drug-related cardiotoxicity, amyloidosis, other infiltrative and storage disorders, and cardiac tumours. Improvements in EMB equipment and the development of new techniques for the analysis of EMB samples have significantly improved diagnostic precision of EMB. Read More

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Paraproteinemias and Peripheral Nerve Disease.

Clin Geriatr Med 2021 May;37(2):301-312

Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:

This article provides an overview of the clinical features, diagnosis, and treatment of the major paraprotein-related peripheral neuropathies, including monoclonal gammopathy of undetermined significance, Waldenström macroglobulinemia, POEMS syndrome, multiple myeloma, transthyretin amyloidosis, and light chain amyloidosis. For each paraprotein neuropathy, the epidemiology, demographics, systemic findings, and electrophysiologic features are presented. Pharmacologic treatment of transthyretin amyloid polyneuropathy also is reviewed. Read More

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Neuronal Hyperexcitability in APPSWE/PS1dE9 Mouse Models of Alzheimer's Disease.

J Alzheimers Dis 2021 ;81(3):855-869

Department of Psychosomatic Medicine and Psychotherapy, University of Rostock, Rostock, Germany.

Transgenic mouse models serve a better understanding of Alzheimer's disease (AD) pathogenesis and its consequences on neuronal function. Well-known and broadly used AD models are APPswe/PS1dE9 mice, which are able to reproduce features of amyloid-β (Aβ) plaque formations as well as neuronal dysfunction as reflected in electrophysiological recordings of neuronal hyperexcitability. The most prominent findings include abnormal synaptic function and synaptic reorganization as well as changes in membrane threshold and spontaneous neuronal firing activities leading to generalized excitation-inhibition imbalances in larger neuronal circuits and networks. Read More

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January 2021

Primary localized gastric amyloidosis: A scoping review of the literature from clinical presentations to prognosis.

World J Gastroenterol 2021 Mar;27(12):1132-1148

Department of Gastroenterology, The First Hospital of China Medical University, Shenyang 110001, Liaoning Province, China.

Localized gastric amyloidosis (LGA) is a rare disease characterized by abnormal extracellular deposition of amyloid protein restricted to the stomach and it is confirmed by positive results of Congo red staining. Over decades, only a few cases have been reported and studies or research focusing on it are few. Although LGA has a low incidence, patients may suffer a lot from it and require proper diagnosis and management. Read More

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A Review of Novel Agents and Clinical Considerations in Patients With ATTR Cardiac Amyloidosis.

J Cardiovasc Pharmacol 2021 May;77(5):544-548

Department of Pharmacy, Boston Medical Center, Boston, MA.

Abstract: Transthyretin (ATTR) amyloidosis is a multisystem disease caused by organ deposition of amyloid fibrils derived from the misfolded transthyretin (TTR) protein. The purpose of this article is to provide an overview of current treatment regimens and summarize important considerations for each agent. A literature search was performed with the PubMed database for articles published through October 2020. Read More

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Reactive astrocytes as treatment targets in Alzheimer's disease-Systematic review of studies using the APPswePS1dE9 mouse model.

Glia 2021 Aug 25;69(8):1852-1881. Epub 2021 Feb 25.

Department of Translational Neuroscience, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, The Netherlands.

Astrocytes regulate synaptic communication and are essential for proper brain functioning. In Alzheimer's disease (AD) astrocytes become reactive, which is characterized by an increased expression of intermediate filament proteins and cellular hypertrophy. Reactive astrocytes are found in close association with amyloid-beta (Aβ) deposits. Read More

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Efficacy of echocardiography for differential diagnosis of left ventricular hypertrophy: special focus on speckle-tracking longitudinal strain.

Authors:
Hidekazu Tanaka

J Echocardiogr 2021 Jun 18;19(2):71-79. Epub 2021 Jan 18.

Division of Cardiovascular Medicine, Department of Internal Medicine, Kobe University Graduate School of Medicine, 7-5-2, Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.

Left ventricular (LV) hypertrophy (LVH) is a frequent imaging finding in daily clinical practice, and its presence is associated with poor outcomes and ventricular arrhythmias. It is commonly detected in athletes, arterial hypertension, aortic stenosis, hypertrophic cardiomyopathy, cardiac amyloidosis, Fabry disease, or Friedreich's ataxia. Echocardiography plays an important role in detecting LVH and underlying causes in current clinical practice. Read More

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Evidence of B Cell Clonality and Investigation Into Properties of the IgM in Patients With Schnitzler Syndrome.

Front Immunol 2020 3;11:569006. Epub 2020 Dec 3.

National Institute for Health Research-Leeds Musculoskeletal Biomedical Research Centre and Leeds Institute of Rheumatic and Musculoskeletal Medicine, Leeds, United Kingdom.

The Schnitzler Syndrome (SchS) is an acquired, autoinflammatory condition successfully treated with IL-1 inhibition. The two main defining features of this late-onset condition are neutrophilic urticarial dermatoses (NUD) and the presence of an IgM monoclonal component. While the former aspect has been extensively studied in this disease setting, the enigmatic paraproteinaemia and its potential consequential effects within SchS, has not previously been thoroughly addressed. Read More

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Recommendations for the diagnosis and management of transthyretin amyloidosis with gastrointestinal manifestations.

Eur J Gastroenterol Hepatol 2021 May;33(5):613-622

Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden.

Transthyretin amyloid (ATTR) amyloidosis is an adult-onset, rare systemic disorder characterized by the accumulation of misfolded fibrils in the body, including the peripheral nerves, the heart and the gastrointestinal tract. Gastrointestinal manifestations are common in hereditary (ATTRv) amyloidosis and are present even before the onset of the polyneuropathy in some cases. Delays in diagnosis of ATTRv amyloidosis with gastrointestinal manifestations commonly occur because of fragmented knowledge among gastroenterologists and general practitioners, as well as a shortage of centers of excellence and specialists dedicated to disease management. Read More

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Infections and AA amyloidosis: An overview.

Int J Clin Pract 2021 Jun 20;75(6):e13966. Epub 2021 Jan 20.

Sorbonne Université, Service de médecine interne, GRC-28 (GRAASU), Centre national de référence des maladies autoinflammatoires et des amyloses inflammatoires (CEREMAIA), hôpital Tenon, AP-HP, Paris, France.

Background: Amyloidoses are a heterogeneous group of systemic diseases characterised by extracellular accumulation of insoluble amyloid fibrils derived from unfolded proteins. Inflammatory (AA) amyloidosis can complicate various inflammatory disorders that are associated with a sustained acute phase response and serum amyloid A (SAA) protein overproduction. Chronic infections were the first recognised cause of amyloidoses. Read More

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Hereditary transthyretin amyloidosis overview.

Neurol Sci 2020 Nov 14. Epub 2020 Nov 14.

Rare Neurodegenerative and Neurometabolic Diseases Unit, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Hereditary amyloidogenic transthyretin (ATTRv) amyloidosis is a rare autosomal dominantly inherited disorder caused by mutations in the transthyretin (TTR) gene. The pathogenetic model of ATTRv amyloidosis indicates that amyloidogenic, usually missense, mutations destabilize the native TTR favouring the dissociation of the tetramer into partially unfolded species that self-assemble into amyloid fibrils. Amyloid deposits and monomer-oligomer toxicity are the basis of multisystemic ATTRv clinical involvement. Read More

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November 2020

Multiple Myeloma: Clinical Updates from the American Society of Clinical Oncology Annual Scientific Symposium 2020.

J Clin Med 2020 Nov 11;9(11). Epub 2020 Nov 11.

Division of Hematology, Department of Internal Medicine, The Ohio State University Comprehensive Cancer Center, Columbus, OH 43210, USA.

The novel clinical data for plasma cell neoplasms (smoldering myeloma, multiple myeloma, and AL amyloidosis) that were presented in the 2020 American Society of Clinical Oncology virtual scientific symposium are summarized here. Data from large phase-3 studies (CASSIOPEIA, ENDURANCE, and TOURMALINE-MM4 trials) and phase-2 studies (SWOG 1211, GMMG CONCEPT trials) for newly diagnosed multiple myeloma patients who are eligible for autologous stem cell transplantation are described. Updates from previous important studies for multiple myeloma (STaMINA) along with studies on three different chimeric antigen receptor (CAR-) T cell products are also described. Read More

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November 2020

Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies.

Continuum (Minneap Minn) 2020 10;26(5):1224-1256

Purpose Of Review: This article provides an overview of Charcot-Marie-Tooth disease (CMT) and other inherited neuropathies. These disorders encompass a broad spectrum with variable motor, sensory, autonomic, and other organ system involvement. Considerable overlap exists, both phenotypically and genetically, among these separate categories, all eventually exhibiting axonal injury and neurologic impairment. Read More

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October 2020

Regulation of Functional Protein Aggregation by Multiple Factors: Implications for the Amyloidogenic Behavior of the CAP Superfamily Proteins.

Int J Mol Sci 2020 Sep 7;21(18). Epub 2020 Sep 7.

Department of Biomolecular Health Sciences, Faculty of Veterinary Medicine, Utrecht University, 3584 CM Utrecht, The Netherlands.

The idea that amyloid fibrils and other types of protein aggregates are toxic for cells has been challenged by the discovery of a variety of functional aggregates. However, an identification of crucial differences between pathological and functional aggregation remains to be explored. Functional protein aggregation is often reversible by nature in order to respond properly to changing physiological conditions of the cell. Read More

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September 2020

The systemic autoinflammatory disorders for dermatologists. Part 1: overview.

Clin Exp Dermatol 2020 Dec 9;45(8):962-966. Epub 2020 Sep 9.

Portsmouth Hospitals NHS Trust, National Amyloidosis Centre, UCL Division of Medicine and Royal Free London NHS Foundation Trust, Portsmouth, Hampshire, UK.

The systemic autoinflammatory disorders (SAIDs) or periodic fever syndromes are disorders of innate immunity, which can be inherited or acquired. They are almost all very rare and easily overlooked; typically, patients will have seen multiple specialities prior to diagnosis, so a high level of clinical suspicion is key. It is important to note that these are 'high-value' diagnoses as the majority of these syndromes can be very effectively controlled, dramatically improving quality of life and providing protection against the development of irreversible complications such as AA amyloidosis. Read More

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December 2020

The systemic autoinflammatory disorders for dermatologists. Part 2: disease examples.

Clin Exp Dermatol 2020 Dec 3;45(8):967-973. Epub 2020 Sep 3.

Portsmouth Hospitals NHS Trust, National Amyloidosis Centre, UCL Division of Medicine and Royal Free London NHS Foundation Trust, Portsmouth, Hampshire, UK.

The systemic autoinflammatory disorders (SAIDS) or periodic fever syndromes are disorders of innate immunity, which can be inherited or acquired. They are almost all very rare and easily overlooked; typically, patients will have seen multiple specialities prior to diagnosis, so a high level of clinical suspicion is key. It is important to note that these are 'high-value' diagnoses as the majority of these syndromes can be very effectively controlled, dramatically improving quality of life and providing protection against the development of irreversible complications such as AA amyloidosis. Read More

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December 2020

Overview of treatments used in transthyretin-related hereditary amyloidosis: a systematic review.

Eur J Hosp Pharm 2020 07 19;27(4):194-201. Epub 2019 Mar 19.

Pharmacy Department, Hospital Universitario Marques de Valdecilla, Santander, Spain.

Objective: To carry out a systematic review of the literature to analyse the efficacy and safety of treatments available or under investigation for amyloidosis due to mutations in the transthyretin gene (ATTR).

Methods: A bibliographic search was carried out in the following electronic databases up to September 2017: PubMed, Cochrane Library and EMBASE. The inclusion criteria were: efficacy and/or safety studies conducted in humans, studies that included treatments, including treatments in the research phase, and studies that included 10 or more patients. Read More

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Prognosis and Staging of AL Amyloidosis.

Acta Haematol 2020 22;143(4):388-400. Epub 2020 Jun 22.

Department of Internal Medicine V, Division of Hematology/Oncology, Heidelberg University Hospital, Heidelberg, Germany,

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. Read More

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September 2020

Multimodality Imaging in the Evaluation and Management of Cardiac Amyloidosis.

Semin Nucl Med 2020 07 9;50(4):295-310. Epub 2020 Feb 9.

Cardiac Amyloidosis Program, Division of Cardiology, Department of Medicine, Brigham and Women's Hospital, Boston, MA; Cardiac Amyloidosis Program, Division of Cardiology, Department of Medicine, Brigham and Women's Hospital, Boston, MA; Division of Nuclear Medicine, Department of Radiology, Brigham and Women's Hospital, Boston, MA. Electronic address:

Systemic amyloidosis is a heterogeneous group of disorders where misfolded proteins deposit in the various organs as nonbranching fibrils with a β-pleated-sheet structure called amyloid. Extensive extracellular deposition of these amyloid fibrils eventually leads to organ dysfunction. Involvement of the heart, termed as cardiac amyloidosis, leads to heart failure if left untreated and carries high morbidity and mortality. Read More

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Nuclear cardiology: an overview of radioisotope techniques used in the diagnostic workup of cardiovascular disorders.

Kardiol Pol 2020 06 28;78(6):520-528. Epub 2020 May 28.

1st Department of Cardiology, University of Medical Sciences, Poznań, Poland

Cardiovascular diseases are the most common cause of death in patients over 60 years old. Pivotal imaging modalities in cardiac diagnostic workup are echocardiography, magnetic resonance, multi‑row detector computed tomography, coronary angiography, and radioisotope tests. In this study, we summarize the techniques of nuclear medicine (positron emission tomography, single‑photon emission computed tomography, radionuclide ventriculography) that could be implemented in the cardiovascular diagnostic algorithms. Read More

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The Pathology of Amyloidosis in Classification: A Review.

Authors:
Maria M Picken

Acta Haematol 2020 11;143(4):322-334. Epub 2020 May 11.

Department of Pathology, Loyola University Medical Center, Maywood, Illinois, USA,

Background: The amyloidoses are a rare and heterogeneous group of disorders that are characterized by the deposition of abnormally folded proteins in tissues ultimately leading to organ damage. The deposits are mainly extracellular and are recognizable by their affinity for Congo red and their yellow-green birefringence under polarized light. Current classification of amyloid in medical practice is based on the amyloid protein type. Read More

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September 2020

Diagnosing cardiac amyloidosis in every-day practice: A practical guide for the cardiologist.

Int J Cardiol Heart Vasc 2020 Jun 27;28:100519. Epub 2020 Apr 27.

Department of Cardiology and Vascular Medicine, West German Heart and Vascular Center, University Hospital Essen, Hufelandstrasse 55, 45147 Essen, Germany.

Cardiac amyloidosis (CA) has emerged as a previously underestimated cause of heart failure and mortality. Underdiagnosis resulted mainly from unawareness of the true disease prevalence and the non-specific symptoms of the disease. CA results from extracellular deposition of misfolded protein fibrils, commonly derived from transthyretin (ATTR) or immunoglobulin light chains (AL). Read More

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Usefulness of Cardiac Magnetic Resonance Imaging in Aortic Stenosis.

Circ Cardiovasc Imaging 2020 05 6;13(5):e010356. Epub 2020 May 6.

Department of Cardiology (Y.B., C.T.), Amiens University Hospital, France.

The objective of this review is to provide an overview of the role of cardiac magnetic resonance (CMR) in aortic stenosis (AS). Although CMR is undeniably the gold standard for assessing left ventricular volume, mass, and function, the assessment of the left ventricular repercussions of AS by CMR is not routinely performed in clinical practice, and its role in evaluating and quantifying AS is not yet well established. CMR is an imaging modality integrating myocardial function and disease, which could be particularly useful in a pathology like AS that should be considered as a global myocardial disease rather than an isolated valve disease. Read More

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Postmortem examination of COVID-19 patients reveals diffuse alveolar damage with severe capillary congestion and variegated findings in lungs and other organs suggesting vascular dysfunction.

Histopathology 2020 Aug 5;77(2):198-209. Epub 2020 Jul 5.

Pathology, Institute of Medical Genetics and Pathology, University Hospital Basel, University of Basel, Basel, Switzerland.

Aims: Coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has rapidly evolved into a sweeping pandemic. Its major manifestation is in the respiratory tract, and the general extent of organ involvement and the microscopic changes in the lungs remain insufficiently characterised. Autopsies are essential to elucidate COVID-19-associated organ alterations. Read More

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Immunoglobulin light chain amyloidosis: 2020 update on diagnosis, prognosis, and treatment.

Authors:
Morie A Gertz

Am J Hematol 2020 07 28;95(7):848-860. Epub 2020 Apr 28.

Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA.

Disease Overview: Immunoglobulin light chain amyloidosis is a clonal, nonproliferative plasma cell disorder in which fragments of immunoglobulin light or heavy chain are deposited in tissues. Clinical features depend on organs involved but can include heart failure with preserved ejection fraction, nephrotic syndrome, hepatic dysfunction, peripheral/autonomic neuropathy, and "atypical smoldering multiple myeloma or monoclonal gammopathy undetermined significance (MGUS)."

Diagnosis: Tissue biopsy stained with Congo red demonstrating amyloid deposits with apple-green birefringence is required for diagnosis. Read More

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Latest treatment strategies aiming for a cure in transplant-eligible multiple myeloma patients: how I cure younger MM patients with lower cost.

Authors:
Kenshi Suzuki

Int J Hematol 2020 Apr 3;111(4):512-518. Epub 2020 Mar 3.

Director of Myeloma and Amyloidosis Center, Japanese Red Cross Medical Center, Shibuya-ku, Hiroo 4-1-22, Tokyo, Japan.

This article presents a practical overview of the treatment of younger, newly diagnosed multiple myeloma patients, focusing on novel treatment strategies. With the introduction of effective new agents, multiple myeloma is one of the most active and changing fields in clinical oncology. In addition, monitoring technology has become reliable and practical. Read More

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