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Advancing Transthyretin Amyloidosis Drug Development in an Evolving Treatment Landscape: Amyloidosis Forum Meeting Proceedings
IntroductionHereditary transthyretin amyloidosis (ATTRv, also referred to as hATTR; ORPHA 271861) and wild-type ATTR amyloidosis (ATTRwt; ORPHA...
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Gastric Amyloidosis—a Case Report
Amyloids are abnormal misfolded proteins that are resistant to degradation. Due to defective metabolism, they may be deposited in various organs...
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Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey
IntroductionTransthyretin amyloidosis (ATTR amyloidosis) is primarily associated with a cardiac or neurologic phenotype, but a mixed phenotype is...
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AA Amyloidosis: A Contemporary View
Purpose of ReviewAmyloid A (AA) amyloidosis is an organ- or life-threatening complication of chronic inflammatory disorders. Here, we review the...
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Cardiac Amyloidosis Diagnosis and Treatment
Cardiac amyloidosis (CA) is caused by the accumulation of amyloid fibrils in the extracellular space of the myocardium, with clinical manifestations...
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Peripheral Nervous, Hepatic, and Gastrointestinal Endpoints for AL Amyloidosis Clinical Trials: Report from the Amyloidosis Forum Multi-organ System Working Group
Systemic immunoglobulin light chain (AL) amyloidosis is a heterogeneous rare disease driven by a destructive monoclonal gammopathy and typified by...
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Localized amyloidosis of the ureter: a case report
BackgroundAmyloidosis is a collection of disorders characterized by the extracellular deposition of amyloid, a specialized fibrous protein, in...
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Outcomes of patients with cardiac amyloidosis undergoing percutaneous left atrial appendage occlusion
BackgroundThere is limited data on the safety and efficacy of left atrial appendage occlusion (LAAO) devices in patients with cardiac amyloidosis. We...
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Surgical strategies for localized colorectal amyloidosis
BackgroundLocalized colorectal amyloidosis has a good prognosis, but cases involving bleeding or perforation may require surgery. However, there are...
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Musculoskeletal manifestations associated with transthyretin-mediated (ATTR) amyloidosis: a systematic review
BackgroundHereditary and wild-type transthyretin-mediated (ATTRv and ATTRwt) amyloidoses result from the misfolding of transthyretin and aggregation...
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Hereditary transthyretin amyloidosis: a myriad of factors that influence phenotypic variability
Hereditary transthyretin-related amyloidosis (ATTRv amyloidosis) is a rare and progressively debilitating disease characterized by the deposition of...
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Serum alpha 1 antitrypsin potent act as an early diagnostic biomarker for cardiac amyloidosis
Cardiac amyloidosis is a refractory cardiomyopathy with a poor prognosis and lacks effective treatments. N-terminal pro-brain natriuretic peptide...
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Preoperative diagnosis and safe surgical approach in gallbladder amyloidosis: a case report
BackgroundPreoperative diagnosis of gallbladder amyloidosis is usually difficult. In our case, the patient exhibited gallbladder dyskinesia, which...
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Amyloidosis and Fabry Disease A Clinical Guide
This book presents a multispecialty and multidisciplinary approach on Amyloidosis and Fabry disease. These two “rare” diseases are underdiagnosed and...
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A retrospective analysis of clinical features and treatment outcome in 21 patients with immunoglobulin M-related light-chain amyloidosis in Japan: a study from the Amyloidosis Research Committee
We retrospectively gathered data of 21 patients (13 male and 8 female; median age 65 years) diagnosed with immunoglobulin M (IgM)-related light-chain...
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Amyloidosis: a case series and review of the literature
BackgroundSystemic amyloidosis is group of disorders characterized by the accumulation of insoluble proteins in tissues. The most common form of...
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Vutrisiran: A Review in Polyneuropathy of Hereditary Transthyretin-Mediated Amyloidosis
Silencing the transthyretin ( TTR ) gene is an effective strategy in the treatment of hereditary transthyretin-mediated (hATTR) amyloidosis. Vutrisiran...
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Serum monoclonal immunoglobulin light-chain detection differs between immunofixation electrophoresis methods in patients with AL amyloidosis
Serum immunofixation electrophoresis (IFE) is often performed for screening monoclonal proteins (M proteins) in immunoglobulin light-chain...
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A case of bilateral amyloidosis localized to extraocular muscles mimicking thyroid eye disease
BackgroundAmyloidosis is a rare condition characterized by the abnormal deposition of amyloid proteins in various tissues and organs. While systemic...
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Tracheobronchial Amyloidosis: A Case Report
We report a case of an incidentally found tracheobronchial amyloidosis in an asymptomatic patient. A elderly male was admitted to the hospital for an...