1,272 results match your criteria Amyloidosis Transthyretin-Related


Bone scintigraphy imaging and transthyretin-related (ATTR) cardiac amyloidosis: New tricks from an old tool?

J Nucl Cardiol 2022 Jul 22. Epub 2022 Jul 22.

Division of Cardiology, Department of Medicine, Duke University School of Medicine, Durham, NC, USA.

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Wild-type Transthyretin Amyloidosis with Diffuse Alveolar-septal Amyloidosis Diagnosed by a Transbronchial Lung Biopsy.

Intern Med 2022 15;61(14):2203-2207. Epub 2022 Jul 15.

Pulmonary Medicine, Rakuwakai Otowa Hospital, Japan.

A 69-year-old man visited our pulmonary medicine department for dyspnea. Chest computed tomography (CT) revealed ground-glass opacity bilaterally in the lungs. Upon performing a transbronchial lung biopsy (TBLB), organizing pneumonia was diagnosed. Read More

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Does [99mTc]-3,3-diphosphono-1,2-propanodicarboxylic acid (DPD) soft tissue uptake allow the identification of patients with the diagnosis of cardiac transthyretin-related (ATTR) amyloidosis with higher risk for polyneuropathy?

J Nucl Cardiol 2022 Jul 11. Epub 2022 Jul 11.

Division of Nuclear Medicine, Department of Biomedical Imaging and Image-Guided Therapy, Medical University of Vienna, Vienna, Austria.

Background: With the introduction of several drugs for the therapy of transthyretin-related amyloidosis (ATTR) which slow down the disease, early detection of polyneuropathy (PNP) is becoming increasingly of interest. [99mTc]-3,3-Diphosphono-1,2-Propanodicarboxylic Acid (DPD) bone scintigraphy, which is used for the diagnosis of cardiac (c)ATTR, can possibly make an important contribution in the identification of patients at risk for PNP.

Methods: Fifty patients with cATTR, who underwent both planar whole-body DPD scintigraphy and nerve conduction studies (NCS) were retrospectively evaluated. Read More

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A pilot study of nailfold capillaroscopy in hereditary transthyretin amyloidosis.

Sci Rep 2022 Jul 9;12(1):11715. Epub 2022 Jul 9.

Department of Neurology, Konkuk University Medical Center, Seoul, Republic of Korea.

Nailfold capillaroscopy (NFC) is a safe and non-invasive imaging tool for evaluating microvascular abnormalities. This retrospective cross-sectional study aimed to analyze the NFC outcomes and clinical characteristics in patients and an asymptomatic carrier with transthyretin (TTR) gene mutation. The participants consist of eight patients with genetically and clinically confirmed hereditary amyloidogenic transthyretin (ATTRv) amyloidosis and one asymptomatic carrier. Read More

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A patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant.

Transl Neurosci 2022 Jan 7;13(1):116-119. Epub 2022 Jun 7.

Department of Neurology. The First Affiliated Hospital of Guangdong Pharmaceutical University, No. 19, Nonglinxia Road, Yuexiu District, Guangzhou 510000, China.

We report a 30-year-old man involving gastrointestinal symptoms, vitreous opacity, and multiple cranial neuropathies. Transthyretin-related hereditary amyloidosis genetic testing revealed a rare c.251T > C variant p. Read More

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January 2022

Transthyretin amyloidosis with macro-creatine kinase.

BMJ Case Rep 2022 07 6;15(7). Epub 2022 Jul 6.

Department of Cardiovascular Medicine, Chiba University Graduate School of Medicine School of Medicine, Chiba, Japan.

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Hereditary transthyretin amyloidosis: a case report.

J Med Case Rep 2022 Jun 25;16(1):248. Epub 2022 Jun 25.

Division of Neurology, Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.

Background: Hereditary transthyretin amyloidosis is an uncommon multisystem disorder caused by mutation of the transthyretin protein, leading to peripheral neuropathy often with autonomic features, cardiomyopathy, or a mixed phenotype. Multiple other organ systems can be involved with ophthalmologic, renal, hematologic, gastrointestinal, and/or genitourinary symptoms and signs. This often results in assessments by multiple specialists and significant delays before the diagnosis is recognized. Read More

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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

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Determining patterns of vascular function and structure in wild-type transthyretin cardiac amyloidosis. A comparative study.

Int J Cardiol 2022 Sep 16;363:102-110. Epub 2022 Jun 16.

Department of Clinical Therapeutics, University of Athens Medical School, 11528 Athens, Greece. Electronic address:

Background: The impact of wild-type transthyretin-related cardiac amyloidosis (ATTRwt) on functional and structural peripheral vascular measures is unknown. In the present study, we explored patterns of vascular dysfunction in patients with ATTRwt in comparison to diseases with similar cardiac phenotype.

Methods: Treatment-naïve patients with ATTRwt (n = 32) were compared to: 1. Read More

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September 2022

A case of wild type cardiac transthyretin amyloidosis diagnosed by non-invasive methods.

Curr Med Imaging 2022 Jun 10. Epub 2022 Jun 10.

Diagnostic Imaging Department. Fundación Santa Fe de Bogotá.

Introduction: Transthyretin amyloid cardiomyopathy was considered a rare pathology. However, recent studies show a significant prevalence in patients with degenerative aortic stenosis and in heart failure with preserved ejection fraction.

Case Presentation: An 85-year-old woman presented with a four-months history of pain in the rib cage with history of diffuse large B-cell lymphoma of the oral cavity, essential thrombocytosis and dyslipidemia. Read More

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[Ten questions for the cardiologist about cardiac scintigraphy with bone tracers, amyloidosis and the heart].

G Ital Cardiol (Rome) 2022 Jun;23(6):424-432

Centro per la Diagnosi ed il Trattamento delle Cardiomiopatie, Dipartimento Cardiovascolare, Azienda Sanitaria Universitaria Giuliano-Isontina (ASUGI) e Università degli Studi di Trieste, Trieste.

Although traditionally considered a rare and incurable condition, the perspective on cardiac amyloidosis (CA) has changed deeply over the last 10 years following major advances in diagnosis and treatment options. First, the development of non-invasive diagnostic methods, predominantly cardiac scintigraphy with bone tracers, has dramatically changed the epidemiology of the disease, revealing the real prevalence of the transthyretin-related form (ATTR), and has consistently reduced the need for histological amyloid confirmation by endomyocardial biopsy. Second, the availability of new specific therapies, such as tafamidis, has made CA early recognition a clinical need with major impact on patients' management and natural history. Read More

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[Hereditary transthyretin amyloidosis - from symptomatic to curative treatment?]

Lakartidningen 2022 06 3;119. Epub 2022 Jun 3.

senior professor, överläkare, institutionen för folkhälsa och klinisk medicin, Umeå universitet.

Hereditary transthyretin (ATTRv) amyloidosis is a rare but life-threatening multi-systemic disease with clustering areas in, for example, northern Sweden. Until the 1990s, only symptomatic treatments were available but liver transplantation has, in selected patients, been a good therapeutic option since. The first disease-modifying drug for ATTRv amyloidosis was approved in 2011 and since then, the development of new therapeutic drugs has been rapid and successful. Read More

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Early-stage amyloid transthyretin cardiomyopathy: uncertainties and opportunities.

Eur Heart J 2022 Jul;43(27):2633-2635

Institute of Life Sciences, Scuola Superiore Sant'Anna, Pisa, Italy.

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Ocular Manifestations in a Chinese Pedigree of Familial Amyloidotic Polyneuropathy Carrying the Transthyretin Mutation c.401A>G (p.Tyr134Cys).

Genes (Basel) 2022 05 16;13(5). Epub 2022 May 16.

Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China.

Familial amyloid polyneuropathy (FAP) caused by a genetic mutation in transthyretin (TTR) is an autosomal dominant hereditary disease. The retrospective, observational case series study presents the ocular clinicopathological findings of five cases carrying the TTR mutation c.401A>G (p. Read More

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Characteristics and natural history of early-stage cardiac transthyretin amyloidosis.

Eur Heart J 2022 Jul;43(27):2622-2632

National Amyloidosis Centre, Division of Medicine, University College London, London, UK.

Aims: Transthyretin amyloid cardiomyopathy (ATTR-CM) is increasingly diagnosed at an early stage of the disease natural history, defined as National Amyloidosis Centre (NAC) ATTR Stage I. The natural history of early-stage ATTR-CM remains poorly characterized.

Methods And Results: A retrospective multi-centre observational study of 879 patients with ATTR-CM, either wild-type TTR genotype or carrying the p. Read More

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Extracardiac Biopsy Sensitivity in Transthyretin Amyloidosis Cardiomyopathy Patients With Positive Tc-Labeled Pyrophosphate Scintigraphy Findings.

Circ J 2022 06 21;86(7):1113-1120. Epub 2022 May 21.

Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kumamoto University.

Background: The accurate sensitivity of amyloid deposition in extracardiac tissue (subcutaneous tissue and gastrointestinal tract) has not been evaluated in transthyretin amyloidosis cardiomyopathy (ATTR-CM) patients. This study aimed to evaluate the sensitivity of amyloid deposition in obtained endomyocardial and extracardiac biopsies.Methods and Results: This study retrospectively evaluated 175 consecutive ATTR-CM patients (wild-type [ATTRwt]: 134, hereditary [ATTRv]: 41) who had positive findings on Tc-labeled pyrophosphate (Tc-PYP) scintigraphy and underwent tissue biopsy of at least one organ (subcutaneous tissue, gastrointestinal tract, and endomyocardium). Read More

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Phenotyping in heart failure with preserved ejection fraction: A key to find effective treatment.

Adv Clin Exp Med 2022 May 18. Epub 2022 May 18.

1st Chair and Department of Cardiology, Medical University of Warsaw, Poland.

Heart failure with preserved ejection fraction (HFpEF) is an increasingly widespread medical condition, with excessive morbidity and mortality. Recently, for the first time in HFpEF, a reduction in the primary composite outcome of cardiovascular death or HF hospitalization was shown with empagliflozin. The failure of previous clinical trials in HFpEF might have resulted from suboptimal patient selection and inclusion of patients without "true" or clinically significant HFpEF. Read More

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Clinical advances of RNA therapeutics for treatment of neurological and neuromuscular diseases.

RNA Biol 2022 31;19(1):594-608. Epub 2021 Dec 31.

Center for RNA Medicine, Department of Clinical Medicine, Aalborg University, A.C. Meyers Vænge 15, 2450 Copenhagen, Denmark.

RNA therapeutics comprise a diverse group of oligonucleotide-based drugs such as antisense oligonucleotides (ASOs), small interfering RNAs (siRNAs), and short hairpin RNAs (shRNAs) that can be designed to selectively interact with drug targets currently undruggable with small molecule-based drugs or monoclonal antibodies. Furthermore, RNA-based therapeutics have the potential to modulate entire disease pathways, and thereby represent a new modality with unprecedented potential for generating disease-modifying drugs for a wide variety of human diseases, including central nervous system (CNS) disorders. Here, we describe different strategies for delivering RNA drugs to the CNS and review recent advances in clinical development of ASO drugs and siRNA-based therapeutics for the treatment of neurological diseases and neuromuscular disorders. Read More

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December 2021

Prevalence and diagnostic value of extra-left ventricle echocardiographic findings in transthyretin-related cardiac amyloidosis.

Amyloid 2022 Apr 23:1-8. Epub 2022 Apr 23.

Gabriele Monasterio Foundation, Tuscan Region, Pisa, Italy.

Background: Cardiac amyloidosis (CA) is cardiomyopathy with a hypertrophic phenotype characterised by diffuse deposition of anomalous fibrillar proteins in the extracellular matrix.

Objectives: To evaluate the prevalence and diagnostic value of extra left ventricle echocardiographic findings in patients with left ventricular (LV) hypertrophic phenotype and amyloid deposition.

Methods: A group of 146 patients with LV thickness ≥15 mm were enrolled: 70 patients who received a definite diagnosis of sarcomeric hypertrophic cardiomyopathy (HCM group) and 76 patients with transthyretin cardiac amyloidosis (CA group). Read More

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Accessibility to Occupational Therapy Services for Hereditary Transthyretin Amyloidosis.

Int J Environ Res Public Health 2022 04 7;19(8). Epub 2022 Apr 7.

Internal Medicine Department, Son Llàtzer University Hospital, 07198 Palma de Mallorca, Spain.

This study was designed to investigate the global utilization of occupational therapy (OT) services by patients with hereditary transthyretin amyloidosis (ATTRv) in Spain. The main objective was to find out whether these patients have access to OT services and the types of interventions being offered to them, together with their satisfaction and real benefits as users. We developed an online questionnaire which was distributed to patients with ATTRv in Spain through patient associations. Read More

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Prognostic value of exercise echocardiography in patients with wild-type transthyretin amyloidosis.

Ups J Med Sci 2022 28;127. Epub 2022 Mar 28.

Puerta de Hierro University Hospital of Majadahonda, Madrid, Spain.

Background: Wild-type transthyretin amyloidosis is a systemic disease with predominantly cardiac symptoms. The aim of this study was to assess the short-term prognosis of these patients through contractile reserve measured by stress echocardiography, given the usefulness that this parameter has demonstrated in other populations. We considered major events as death from any cause and hospitalization for heart failure. Read More

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3-T MR neurography of lumbo-sacral plexus in hereditary transthyretin-related amyloidosis with polyneuropathy.

Eur Radiol 2022 Apr 19. Epub 2022 Apr 19.

Department of Neurology - Amyloid network, Henri Mondor University Hospital, AP-HP, University Paris-Est Créteil, INSERM, IMRB, Créteil, France.

Objectives: Our aim was to evaluate the ability of magnetic resonance neurography (MRN) of the lumbo-sacral plexus (LSP) to distinguish patients with hereditary transthyretin-related amyloidosis with polyneuropathy (ATTRv-PN) from asymptomatic variant carriers (AVC) and healthy controls and to assess its prognostic value.

Methods: Three-Tesla MRN was performed in 25 consecutive ATTRv-PN patients, 18 AVC, and 10 controls including T2-w DIXON and DWI MR sequences. Two blinded readers independently assessed LSP root diameter and intraneural signal on the MRN images of each subject. Read More

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[Gene therapy options for hereditary transthyretin-related amyloidosis].

Nervenarzt 2022 Jun 13;93(6):557-565. Epub 2022 Apr 13.

Klinik für Neurologie mit Institut für Translationale Neurologie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, 48149, Münster, Deutschland.

Hereditary transthyretin-related amyloidosis (ATTRv) is a rare autosomal dominant disease and is fatal if left untreated. It is caused by mutations in the transthyretin gene. All known mutations induce misfolding of the tetrameric transthyretin molecule and protein deposits in multiple organs. Read More

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Clinical and Genetic Evaluation of People with or at Risk of Hereditary ATTR Amyloidosis: An Expert Opinion and Consensus on Best Practice in Ireland and the UK.

Adv Ther 2022 06 13;39(6):2292-2301. Epub 2022 Apr 13.

National Amyloidosis Centre, Division of Medicine, UCL, Royal Free Hospital, Rowland Hill Street, London, NW3 2PF, UK.

Hereditary transthyretin-mediated amyloidosis (hATTR) is challenging to diagnose early owing to the heterogeneity of clinical presentation, which differs according to the TTR gene variant and its penetrance in each individual. The TTR variants seen most frequently in the UK and Ireland (T80A, V142I and V50M) differ to those commonly occurring in other geographic locations and warrant a specific consideration for diagnosis and genetic testing. In addition, recent availability of treatment for this condition has reinforced the need for a more consistent approach to the management of patients, including access to specialist services, genetic testing and counselling, and clinical investigation for families living in the UK and Ireland. Read More

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[Practice guideline for the treatment of familial amyloid polyneuropathy].

Medicina (B Aires) 2022 ;82(2):262-274

Servicio de Neurología, Hospital Italiano de Buenos Aires, Argentina.

This clinical practice guideline for the treatment of familial amyloid polyneuropathy is based on the best available evidence of clinical effectiveness. A list of questions was generated with a PICO format focused on the effectiveness and safety of the treatment of familial amyloid polyneuropathy. The search was carried out in PubMed, Cochrane and Epistemonikos. Read More

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Unmasking the prevalence of amyloid cardiomyopathy in the real world: results from Phase 2 of the AC-TIVE study, an Italian nationwide survey.

Eur J Heart Fail 2022 Apr 13. Epub 2022 Apr 13.

University Cardiology, A.O.U. Città della Salute e della Scienza di Torino, Turin, Italy.

Aim: To investigate the prevalence of amyloid cardiomyopathy (AC) and the diagnostic accuracy of echocardiographic red flags of AC among consecutive adult patients undergoing transthoracic echocardiogram for reason other than AC in 13 Italian institutions.

Methods And Results: This is an Italian prospective multicentre study, involving a clinical and instrumental work-up to assess AC prevalence among patients ≥55 years old with an echocardiogram suggestive of AC (i.e. Read More

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Association of Transthyretin Val122Ile Variant With Incident Heart Failure Among Black Individuals.

JAMA 2022 04;327(14):1368-1378

Division of Cardiovascular Disease, University of Alabama, Birmingham.

Importance: A genetic variant in the TTR gene (rs76992529; Val122Ile), present more commonly in individuals with African ancestry (population frequency: 3%-4%), causes misfolding of the tetrameric transthyretin protein complex that accumulates as extracellular amyloid fibrils and results in hereditary transthyretin amyloidosis.

Objective: To estimate the association of the amyloidogenic Val122Ile TTR variant with the risk of heart failure and mortality in a large, geographically diverse cohort of Black individuals.

Design, Setting, And Participants: Retrospective population-based cohort study of 7514 self-identified Black individuals living in the US participating in the REGARDS (Reasons for Geographic and Racial Differences in Stroke) study with genetic data available and without heart failure at baseline. Read More

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Lung amyloidosis: Innocent bystander, or novel target-organ in transthyretin amyloidosis?

Respir Med 2022 06 27;197:106830. Epub 2022 Mar 27.

Cardiovascular Research Team EA7525, Université des Antilles (University of the French West Indies), 97200, Fort de France, France; Cardiopulmonary Physiology Unit, CHU Martinique (University Hospital of Martinique), 97200, Fort de France, France. Electronic address:

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