227 results match your criteria Amyloidosis Overview


The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Lymphoid Neoplasms.

Leukemia 2022 Jun 22. Epub 2022 Jun 22.

Dr. Senckenberg Institute of Pathology, Goethe University Frankfurt, Frankfurt am Main, Germany.

We herein present an overview of the upcoming 5 edition of the World Health Organization Classification of Haematolymphoid Tumours focussing on lymphoid neoplasms. Myeloid and histiocytic neoplasms will be presented in a separate accompanying article. Besides listing the entities of the classification, we highlight and explain changes from the revised 4 edition. Read More

View Article and Full-Text PDF

Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update.

Orphanet J Rare Dis 2022 06 18;17(1):236. Epub 2022 Jun 18.

Pfizer Inc, New York, NY, USA.

Background: Transthyretin amyloidosis (ATTR amyloidosis) is a rare, life-threatening disease caused by the accumulation of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in the heart, peripheral nerves, and other tissues and organs.

Methods: Established in 2007, the Transthyretin Amyloidosis Outcomes Survey (THAOS) is the largest ongoing, global, longitudinal observational study of patients with ATTR amyloidosis, including both inherited and wild-type disease, and asymptomatic carriers of pathogenic TTR mutations. This descriptive analysis examines baseline characteristics of symptomatic patients and asymptomatic gene carriers enrolled in THAOS since its inception in 2007 (data cutoff: August 1, 2021). Read More

View Article and Full-Text PDF

Vascular Cognitive Impairment and Dementia.

Continuum (Minneap Minn) 2022 06;28(3):750-780

Purpose Of Review: This article gives a broad overview of vascular cognitive impairment and dementia, including epidemiology, pathophysiology, clinical approach, and management. Emphasis is placed on understanding the common underlying types of cerebrovascular disease (including atherosclerosis, arteriolosclerosis, and cerebral amyloid angiopathy) and awareness of rare inherited cerebrovascular disorders.

Recent Findings: The pathophysiology of vascular cognitive impairment and dementia is heterogeneous, and the most recent diagnostic criteria for vascular cognitive impairment and dementia break down the diagnosis of major vascular dementia into four phenotypic categories, including subcortical ischemic vascular dementia, poststroke dementia, multi-infarct dementia, and mixed dementia. Read More

View Article and Full-Text PDF

The Role of Amyloid PET in Imaging Neurodegenerative Disorders: A Review.

J Nucl Med 2022 Jun;63(Suppl 1):13S-19S

Memory and Aging Center, Department of Neurology, University of California, San Francisco, San Francisco, California.

Imaging of amyloid deposition using PET has been available in research studies for 2 decades and has been approved for clinical use by the U.S. Food and Drug Administration, the European Medicines Agency, and other regulatory agencies around the world. Read More

View Article and Full-Text PDF

[Monoclonal gammopathy of (un)known significance].

Dtsch Med Wochenschr 2022 Jun 30;147(11):675-682. Epub 2022 May 30.

Medizinische Klinik und Poliklinik II, Universitätsklinikum Würzburg.

Monoclonal gammopathies are a frequently diagnosed entity. However, the diagnosis is not always clinically relevant. The diagnosis of a monoclonal gammopathy requires serum electrophoresis, immunofixation and free light chain measurement. Read More

View Article and Full-Text PDF

[Clinical use of Cardiac Nuclear Medicine in Germany].

Dtsch Med Wochenschr 2022 04 25;147(9):538-548. Epub 2022 Apr 25.

Cardiac nuclear medicine comprises various diagnostic techniques using radiopharmaceuticals for functional imaging in vivo. This article provides an overview of current clinical use of cardiac imaging in nuclear medicine in Germany: Myocardial perfusion imaging using SPECT is a well-established noninvasive tool to semi-quantitatively measure left ventricular myocardial perfusion. Ischemia and chronic myocardial scars can be idenified with a high diagnostic accuracy. Read More

View Article and Full-Text PDF

Immunoglobulin light chain amyloidosis: 2022 update on diagnosis, prognosis, and treatment.

Authors:
Morie A Gertz

Am J Hematol 2022 06 25;97(6):818-829. Epub 2022 Apr 25.

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 of undetermined significance (MGUS)."

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

View Article and Full-Text PDF

Aortic valve intervention for aortic stenosis and cardiac amyloidosis: a systematic review and meta-analysis.

Future Cardiol 2022 Jun 14;18(6):477-486. Epub 2022 Apr 14.

Centro Hospitalar e Universitário de Coimbra - Hospital Geral, Quinta dos Vales, São Martinho do Bispo 108, Coimbra, 3041-801, Portugal.

Aortic stenosis with cardiac amyloidosis (CA-AS) is common in the elderly. We provide an overview and a meta-analysis of outcomes after aortic valve (AV) intervention. The primary end point was all-cause mortality. Read More

View Article and Full-Text PDF

Cardiac Amyloidosis Treatment.

Methodist Debakey Cardiovasc J 2022 14;18(2):59-72. Epub 2022 Mar 14.

Smidt Heart Institute, Cedars-Sinai, Los Angeles, California, US.

Cardiac amyloidosis (CA) is a restrictive cardiomyopathy with a traditionally poor prognosis. Until recently, CA treatment options were limited and consisted predominantly of managing symptoms and disease-related complications. However, the last decade has seen significant advances in disease-modifying therapies, increased awareness of CA, and improved diagnostic methods resulting in earlier diagnoses. Read More

View Article and Full-Text PDF

The revolution of ATTR amyloidosis in cardiology: certainties, gray zones and perspectives.

Minerva Cardiol Angiol 2022 Apr;70(2):248-257

Sant'Anna High School, Institute of Life Sciences, Pisa, Italy.

Transthyretin (TTR) is a tetrameric protein synthesized mostly by the liver. As a result of gene mutations or as an ageing-related phenomenon, TTR molecules may misfold and deposit in the heart and in other organs as amyloid fibrils. Amyloid transthyretin cardiac amyloidosis (ATTR-CA) manifests typically as left ventricular pseudohypertrophy and/or heart failure with preserved ejection fraction and is an underdiagnosed disorder affecting quality of life and prognosis. Read More

View Article and Full-Text PDF

CRISPR and Cardiovascular Diseases.

Authors:
Kiran Musunuru

Cardiovasc Res 2022 Apr 7. Epub 2022 Apr 7.

Cardiovascular Institute, Department of Medicine, and Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

CRISPR technologies have progressed by leaps and bounds over the past decade, not only having a transformative effect on biomedical research but also yielding new therapies that are poised to enter the clinic. In this review, I give an overview of (1) the various CRISPR DNA-editing technologies, including standard nuclease gene editing, base editing, prime editing, and epigenome editing, (2) their impact on cardiovascular basic science research, including animal models, human pluripotent stem cell models, and functional screens, and (3) emerging therapeutic applications for patients with cardiovascular diseases, focusing on the examples of hypercholesterolemia, transthyretin amyloidosis, and Duchenne muscular dystrophy. Read More

View Article and Full-Text PDF

Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling.

Rev Cardiovasc Med 2022 Mar;23(3):108

Heart Institute, Department of Pediatrics, University of Tennessee Health Science Center, Memphis, TN 38103, USA.

Restrictive cardiomyopathy (RCM), a potentially devastating heart muscle disorder, is characterized by diastolic dysfunction due to abnormal muscle relaxation and myocardial stiffness resulting in restrictive filling of the ventricles. Diastolic dysfunction is often accompanied by left atrial or bi-atrial enlargement and normal ventricular size and systolic function. RCM is the rarest form of cardiomyopathy, accounting for 2-5% of pediatric cardiomyopathy cases, however, survival rates have been reported to be 82%, 80%, and 68% at 1-, 2-, and 5-years after diagnosis, respectively. Read More

View Article and Full-Text PDF

Suspicion, screening, and diagnosis of wild-type transthyretin amyloid cardiomyopathy: a systematic literature review.

ESC Heart Fail 2022 06 27;9(3):1524-1541. Epub 2022 Mar 27.

Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark.

Wild-type transthyretin amyloid cardiomyopathy (ATTRwt CM) is a more common disease than previously thought. Awareness of ATTRwt CM and its diagnosis has been challenged by its unspecific and widely distributed clinical manifestations and traditionally invasive diagnostic tools. Recent advances in echocardiography and cardiac magnetic resonance (CMR), non-invasive diagnosis by bone scintigraphy, and the development of disease-modifying treatments have resulted in an increased interest, reflected in multiple publications especially during the last decade. Read More

View Article and Full-Text PDF

Management of Cardiac Symptoms in Amyloidosis.

Am J Med 2022 Apr 27;135 Suppl 1:S9-S12. Epub 2022 Feb 27.

Cardiovascular Division, Washington University School of Medicine, St. Louis, Mo. Electronic address:

Cardiac amyloidosis (CA) results in symptoms of heart failure, atrial and ventricular arrhythmias, conduction disturbances, and profound autonomic dysfunction. These symptoms present unique management challenges as compared with patients without CA, and can be very debilitating. Thus, management of the cardiovascular symptoms of these patients plays a central role in their care. Read More

View Article and Full-Text PDF

Analysis of the complete lambda light chain germline usage in patients with AL amyloidosis and dominant heart or kidney involvement.

PLoS One 2022 25;17(2):e0264407. Epub 2022 Feb 25.

Medical Department V, Section of Multiple Myeloma, Heidelberg University Hospital, Heidelberg, Germany.

Light chain amyloidosis is one of the most common forms of systemic amyloidosis. The disease is caused by the misfolding and aggregation of immunoglobulin light chains to insoluble fibrils. These fibrils can deposit in different tissues and organs such as heart and kidney and cause organ impairments that define the clinical presentation. Read More

View Article and Full-Text PDF

Amyloidosis in Alzheimer's Disease: Pathogeny, Etiology, and Related Therapeutic Directions.

Molecules 2022 Feb 11;27(4). Epub 2022 Feb 11.

Department of Physiology, College of Medicine, Nanchang University, Nanchang 330006, China.

The amyloid hypothesis of Alzheimer's disease has long been the predominant theory, suggesting that Alzheimer's disease is caused by the accumulation of amyloid beta protein (Aβ) in the brain, leading to neuronal toxicity in the central nervous system (CNS). Because of breakthroughs in molecular medicine, the amyloid pathway is thought to be central to the pathophysiology of Alzheimer's disease (AD). Currently, it is believed that altered biochemistry of the Aβ cycle remains a central biological feature of AD and is a promising target for treatment. Read More

View Article and Full-Text PDF
February 2022

Bioavailability and Health Impact of Ingested Amyloid-like Protein Fibrils and their Link with Inflammatory Status: A Need for More Research?

Mol Nutr Food Res 2022 05 26;66(9):e2101032. Epub 2022 Feb 26.

Laboratory of Food Chemistry and Human Nutrition, Faculty of Bioscience Engineering, Ghent University, Ghent, Belgium.

The use of amyloid-like protein fibrils (ALFs) in food formulations looks very promising in terms of improving techno-functional properties, but raises some concerns in terms of food safety, because of their structural resemblance to disease-related endogenous amyloids. This review focuses on the biological fate and potential health implications of ingested ALF structures in both healthy and predisposed individuals. A comprehensive overview of ALF gastrointestinal digestion, intestinal absorption, and systemic dissemination is provided, in addition to a thorough assessment of potential ALF cross-seeding of endogenous precursor proteins linked to (non)neurodegenerative amyloidosis. Read More

View Article and Full-Text PDF

A unifying framework for amyloid-mediated membrane damage: The lipid-chaperone hypothesis.

Biochim Biophys Acta Proteins Proteom 2022 04 8;1870(4):140767. Epub 2022 Feb 8.

Dipartimento di Scienze Chimiche, Università degli Studi di Catania, Catania, Italy. Electronic address:

Over the past thirty years, researchers have highlighted the role played by a class of proteins or polypeptides that forms pathogenic amyloid aggregates in vivo, including i) the amyloid Aβ peptide, which is known to form senile plaques in Alzheimer's disease; ii) α-synuclein, responsible for Lewy body formation in Parkinson's disease and iii) IAPP, which is the protein component of type 2 diabetes-associated islet amyloids. These proteins, known as intrinsically disordered proteins (IDPs), are present as highly dynamic conformational ensembles. IDPs can partially (mis) fold into (dys) functional conformations and accumulate as amyloid aggregates upon interaction with other cytosolic partners such as proteins or lipid membranes. Read More

View Article and Full-Text PDF

Current and Emerging Therapies for Hereditary Transthyretin Amyloidosis: Strides Towards a Brighter Future.

Neurotherapeutics 2021 10 30;18(4):2286-2302. Epub 2021 Nov 30.

Amyloidosis Research and Treatment Centre, IRCCS Fondazione Policlinico San Matteo, Viale Golgi, 19, 27100, Pavia, Italy.

The past few years have witnessed an unprecedented acceleration in the clinical development of novel therapeutic options for hereditary transthyretin amyloidosis. Recently approved agents and drugs currently under investigation not only represent a major breakthrough in this field but also provide validation of the therapeutic potential of innovative approaches, like RNA interference and CRISPR-Cas9-mediated gene editing, in rare inherited disorders. In this review, we describe the evolving therapeutic landscape for hereditary transthyretin amyloidosis and discuss how this highly disabling and fatal condition is turning into a treatable disease. Read More

View Article and Full-Text PDF
October 2021

Variant transthyretin amyloidosis (ATTRv) polyneuropathy in Greece: a broad overview with a focus on non-endemic unexplored regions of the country.

Neuromuscul Disord 2021 12 29;31(12):1251-1258. Epub 2021 Sep 29.

Neurogenetics Unit, 1st Department of Neurology, Eginitio University Hospital, National and Kapodistrian University of Athens, Athens, Greece.

Comprehensive data on variant transthyretin amyloidosis polyneuropathy (ATTRv-PN) in Greece are lacking. We presently provide an overview of ATTRv-PN in Greece, focusing on unexplored non-endemic regions of the country. In total, we identified 57 cases of ATTRv-PN diagnosed over the past 25 years, including 30 from the island of Crete, an apparent endemic region. Read More

View Article and Full-Text PDF
December 2021

Cardiovascular involvement in patients affected by multiple myeloma: a comprehensive review of recent advances.

Expert Rev Hematol 2021 12 29;14(12):1115-1128. Epub 2021 Nov 29.

Department of Cardiovascular and Pulmonary Sciences, Catholic University of the Sacred Heart, Rome, Italy.

Introduction: Multiple Myeloma (MM) is hematological neoplasia originating from plasma cells, which accounts for almost 1% of all oncologic malignancies. The median age of patients at diagnosis is about 65 years old and over. In this age group, cardiovascular (CV) diseases often co-exist, increasing the risk of adverse events related to MM treatment. Read More

View Article and Full-Text PDF
December 2021

Overview of age-related changes in psychomotor and cognitive functions in a prosimian primate, the gray mouse lemur (Microcebus murinus): Recent advances in risk factors and antiaging interventions.

Am J Primatol 2021 11;83(11):e23337

UMR CNRS/MNHN 7179, Mécanismes Adaptatifs et Evolution, Brunoy, France.

Aging is not homogeneous in humans and the determinants leading to differences between subjects are not fully understood. Impaired glucose homeostasis is a major risk factor for cognitive decline in middle-aged humans, pointing at the existence of early markers of unhealthy aging. The gray mouse lemur (Microcebus murinus), a small lemuriform Malagasy primate, shows relatively slow aging with decreased psychomotor capacities at middle-age (around 5-year old). Read More

View Article and Full-Text PDF
November 2021

Fluid Biomarkers for Monitoring Structural Changes in Polyneuropathies: Their Use in Clinical Practice and Trials.

Neurotherapeutics 2021 10 18;18(4):2351-2367. Epub 2021 Oct 18.

Neurochemistry Lab, Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam UMC, Vrije Universiteit, Amsterdam, the Netherlands.

Reliable and responsive tools for monitoring disease activity and treatment outcomes in patients with neuropathies are lacking. With the emergence of ultrasensitive blood bioassays, proteins released with nerve damage are potentially useful response biomarkers for many neurological disorders, including polyneuropathies. In this review, we provide an overview of the existing literature focusing on potential applications in polyneuropathy clinical care and trials. Read More

View Article and Full-Text PDF
October 2021

Diagnosis and management of lung involvement in systemic lupus erythematosus and Sjögren's syndrome: a literature review.

Ther Adv Musculoskelet Dis 2021 30;13:1759720X211040696. Epub 2021 Sep 30.

Division of Rheumatology, Department of Medicine, University of Padua, Via Giustiniani, 2, 35128 Padua, Italy.

Lung involvement in systemic lupus erythematosus (SLE) and primary Sjögren's syndrome (pSS) has extensively been outlined with a multiplicity of different manifestations. In SLE, the most frequent finding is pleural effusion, while in pSS, airway disease and parenchymal disorders prevail. In both cases, there is an increased risk of pre-capillary and post-capillary pulmonary arterial hypertension (PAH) and pulmonary venous thromboembolism (VTE). Read More

View Article and Full-Text PDF
September 2021

Dissecting the Molecular Features of Systemic Light Chain (AL) Amyloidosis: Contributions from Proteomics.

Medicina (Kaunas) 2021 Aug 31;57(9). Epub 2021 Aug 31.

Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, V.le Golgi 19, 27100 Pavia, Italy.

Amyloidoses are characterized by aggregation of proteins into highly ordered amyloid fibrils, which deposit in the extracellular space of tissues, leading to organ dysfunction. In AL (amyloid light chain) amyloidosis, the most common form in Western countries, the amyloidogenic precursor is a misfolding-prone immunoglobulin light chain (LC), which, in the systemic form, is produced in excess by a plasma cell clone and transported to target organs though blood. Due to the primary role that proteins play in the pathogenesis of amyloidoses, mass spectrometry (MS)-based proteomic studies have gained an established position in the clinical management and research of these diseases. Read More

View Article and Full-Text PDF

Neurodegeneration & imperfect ageing: Technological limitations and challenges?

Mech Ageing Dev 2021 12 22;200:111574. Epub 2021 Sep 22.

Cellular and Molecular Neurobiology Unit, Indian Institute of Technology, Jodhpur, Rajasthan, 342037, India. Electronic address:

Cellular homeostasis is regulated by the protein quality control (PQC) machinery, comprising multiple chaperones and enzymes. Studies suggest that the loss of the PQC mechanisms in neurons may lead to the formation of abnormal inclusions that may lead to neurological disorders and defective aging. The questions could be raised how protein aggregate formation precisely engenders multifactorial molecular pathomechanism in neuronal cells and affects different brain regions? Such questions await thorough investigation that may help us understand how aberrant proteinaceous bodies lead to neurodegeneration and imperfect aging. Read More

View Article and Full-Text PDF
December 2021

Current Review of Leptomeningeal Amyloidosis Associated With Transthyretin Mutations.

Neurologist 2021 Sep 7;26(5):189-195. Epub 2021 Sep 7.

Department of Neurology, Innovation Center for Neurological Disorders.

Introduction: Leptomeningeal amyloidosis (LA) represents a rare subtype of familial transthyretin (TTR) amyloidosis, characterized by deposition of amyloid in cranial and spinal leptomeninges. Of >120 TTR mutations identified, few have been associated with LA.

Case Report: A 27-year-old male presented with a 2-year history of progressive symptoms including cognitive decline and right-sided weakness and numbness. Read More

View Article and Full-Text PDF
September 2021

Comparative neuropathology in aging primates: A perspective.

Am J Primatol 2021 11 13;83(11):e23299. Epub 2021 Jul 13.

Nash Family Department of Neuroscience and Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

While humans exhibit a significant degree of neuropathological changes associated with deficits in cognitive and memory functions during aging, non-human primates (NHP) present with more variable expressions of pathological alterations among individuals and species. As such, NHP with long life expectancy in captivity offer an opportunity to study brain senescence in the absence of the typical cellular pathology caused by age-related neurodegenerative illnesses commonly seen in humans. Age-related changes at neuronal population, single cell, and synaptic levels have been well documented in macaques and marmosets, while age-related and Alzheimer's disease-like neuropathology has been characterized in additional species including lemurs as well as great apes. Read More

View Article and Full-Text PDF
November 2021

Heart failure following transcatheter aortic valve replacement.

Expert Rev Cardiovasc Ther 2021 Aug 6;19(8):695-709. Epub 2021 Jul 6.

Department of Cardiology, Quebec Heart & Lung Institute, Laval University, Quebec City, Quebec, Canada.

: Over the past decade, the number of transcatheter aortic valve replacement (TAVR) procedures has increased exponentially. Despite major improvements in both device and successes, the rate of hospital readmission after TAVR remains high, with heart failure (HF) decompensation being one of the most important causes.: This review provides an overview of the current status of HF following TAVR, including details about its incidence, clinical impact, contributing factors, and current and future treatment perspectives. Read More

View Article and Full-Text PDF

Emerging role of metabolomics in protein conformational disorders.

Expert Rev Proteomics 2021 05 6;18(5):395-410. Epub 2021 Jul 6.

Department of Biotechnology, School of Chemical and Life Sciences, Jamia Hamdard, India.

: Metabolomics focuses on interactions among different metabolites associated with various cellular functions in cells, tissues, and organs. In recent years, metabolomics has emerged as a powerful tool to identify perturbed metabolites, pathways influenced by the environment, for protein conformational diseases (PCDs) and also offers wide clinical application.: This review provides a brief overview of recent advances in metabolomics as applied to identify metabolic variations in PCDs, such as Alzheimer's disease, Parkinson's disease, Huntington's disease, prion disease, and cardiac amyloidosis. Read More

View Article and Full-Text PDF