education - scientific literature & patient education texts | oneAMYLOIDOSISvoice

Unmet Needs in hATTR Amyloidosis in Europe

Global Alliance for Patient Access
Year: 2021

People living with rare diseases face a unique set of challenges, from reaching a timely and accurate diagnosis to accessing treatment. Although individual rare diseases may impact only a small population, there are about 30 million people living in Europe with one of 6,000 identified rare diseases. One such rare disease is hereditary transthyretin (hATTR) amyloidosis. It is caused by a hereditary ge...

Wild-type ATTR

Amyloidosis Foundation
Year: N/A

Wild-type ATTR is also referred to as ATTRwt. It is not caused by any known genetic mutations, such as in the case of hereditary forms of the disease (hATTR). This disease used to be called SSA or SCA, which stood for Senile Systemic Amyloidosis and Senile Cardiac Amyloidosis, respectively, which are now outdated terminologies. The disease is not known to be directly related to dementia, but it is related to aging.  ...

Lay Summary of “Expert Analysis and Opinion—Understanding Cardiac Amyloidosis”

American College of Cardiology Foundation
Year: 2021

This expert analysis was constructed to provide key points that cardiology doctors (heart specialists) should know about cardiac amyloidosis. It was designed to be succinct and high-yield so that a doctor could read and assimilate the information with minimal effort and time required.   Topics include an overview of the spectrum of cardiac amyloid diseases and their population impact, how to diagnose, and how...

ACC CardiaCast: Understanding AL and ATTR Cardiac Amyloidosis

American College of Cardiology Foundation
Year: 2021

In this episode, Frederick Ruberg, MD, and Mathew Maurer, MD, discuss key topics in cardiac amyloidosis such as the evolving understanding of the epidemiology of the disease, contemporary approaches to diagnosis with an emphasis on noninvasive means, disease course and management of heart failure a...

Recommendations for COVID Vaccination

Mayo Clinic
Year: N/A

We recommend that patients with myeloma and related disorders, whether on or off chemotherapy, receive COVID vaccination as soon as it is available and offered to them.

Note: Patients with myeloma and related disorders who have undergone stem cell transplantation can receive COVID vaccination starting around two months after stem cell transplantation.

 

Frequently Asked Questions About COVID-19 Vaccination

National Center for Immunization and Respiratory Diseases (NCIRD)
Year: 2021

This article includes some commonly asked questions about COVID-19 vaccination. CDC also has information for busting common vaccine myths available on facts about COVID-19 vaccines. Get answers to other frequently asked questions about:   • Vaccination for healthcare professionals. • Vaccine Administration Management System (VAMS). • Preparing for COVID-19 vaccinat...

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CRISPR Gene Therapy: Applications, Limitations, and Implications for the Future

Frontiers in Oncology
Year: 2020

A series of recent discoveries harnessing the adaptive immune system of prokaryotes to perform targeted genome editing is having a transformative influence across the biological sciences. The discovery of Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) and CRISPR-associated (Cas) proteins has expanded the applications of genetic research in thousands of laboratories across the globe and is redefining our approach to gene t...

Geographic Disparities in Reported US Amyloidosis Mortality From 1979 to 2015: Potential Underdetection of Cardiac Amyloidosis

JAMA Cardiology
Year: 2018

Importance: Cardiac amyloidosis is an underdiagnosed disease and is highly fatal when untreated. Early diagnosis and treatment with the emerging novel therapies significantly improve survival. A comprehensive analysis of amyloidosis-related mortality is critical to appreciate the nature and distribution of underdiagnosis and improve disease detection.   Objective:...

Marked Progress in AL Amyloidosis Survival: A 40-Year Longitudinal Natural History Study

Blood Cancer Journal
Year: 2021

The recent decades have ushered in considerable advancements in the diagnosis and treatment of systemic light chain (AL) amyloidosis. As disease outcomes improve, AL amyloidosis-unrelated factors may impact mortality. In this study, we evaluated survival trends and primary causes of death among 2337 individuals with AL amyloidosis referred to the Boston University Amyloidosis Center. Outcomes were analyzed according to date of diagnosis: 1980-198...

CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis

The New England Journal of Medicine
Year: 2021

Background: Transthyretin amyloidosis, also called ATTR amyloidosis, is a life-threatening disease characterized by progressive accumulation of misfolded transthyretin (TTR) protein in tissues, predominantly the nerves and heart. NTLA-2001 is an in vivo gene-editing therapeutic agent that is designed to treat ATTR amyloidosis by reducing the concentration of TTR in serum. ...

Primary Brain Amyloidoma, Both a Neoplastic and a Neurodegenerative Disease: A Case Report

BMC Neurology
Year: 2019

Background: Scattered extracellular deposits of amyloid within the brain parenchyma can be found in a heterogeneous group of diseases. Its condensed accumulation in the white matter without evidence for systemic amyloidosis is known as primary brain amyloidoma (PBA). Although originally considered as a tumor-like lesion by its space-occupying effect, this condition displays also common hallmarks of a neurodegener...

Cerebral Amyloidoma Resulting from Central Nervous System Lymphoplasmacytic Lymphoma: A Case Report and Literature Review

Case Reports in Pathology
Year: 2018

Cerebral amyloidomas are rare cerebral mass lesions often associated with significant morbidity. Cerebral amyloid accumulation can be the result of a number of disease states and it is crucial for proper patient care to identify the pathogenic process leading to amyloidoma formation. Low grade clonal B-cell processes are one cause of cerebral amyloidomas. We report a case of an 87-year-old woman who presented with a lymphoplasmacytic lymphoma ass...

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Nutrition Guidelines for Patients: Hereditary Transthyretin Amyloidosis

Alnylam Pharmaceuticals, Inc.
Year: 2020

Adopting simple, healthy habits is one of the most influential factors in developing a balanced lifestyle. Nutrition affects overall physical and mental health and gains further importance when suffering from a disease. Promoting good nutrition may improve the consequences that illness or medication has on our bodies.   Food is an art in our culture. We can look after ourselves and play a socially active role around...

ASNC/AHA/ASE/EANM/HFSA/ISA/SCMR/SNMMI Expert Consensus Recommendations for Multimodality Imaging In Cardiac Amyloidosis: Part 1 of 2-Evidence Base and Standardized Methods of Imaging

Journal of Nuclear Cardiology
Year: 2019

Cardiac amyloidosis is a form of restrictive infiltrative cardiomyopathy that confers significant mortality. Due to the relative rarity of cardiac amyloidosis, clinical and diagnostic expertise in the recognition and evaluation of individuals with suspected amyloidosis is mostly limited to a few expert centers. Electrocardiography, echocardiography, and radionuclide imaging have been used for the evaluation of cardiac amyloidosis for over 40...

ASNC/AHA/ASE/EANM/HFSA/ISA/SCMR/SNMMI Expert Consensus Recommendations for Multimodality Imaging in Cardiac Amyloidosis: Part 2 of 2-Diagnostic Criteria and Appropriate Utilization

Journal of Cardiac Failure
Year: 2019

Cardiac amyloidosis is emerging as an underdiagnosed cause of heart failure and mortality. Growing literature suggests that a noninvasive diagnosis of cardiac amyloidosis is now feasible. However, the diagnostic criteria and utilization of imaging in cardiac amyloidosis are not standardized. In this paper, Part 2 of a series, a panel of international experts from multiple societies define the diagnostic criteria for cardiac amyloidosis and approp...

Recommendations of International Society of Amyloidosis on the Management of Patients with Systemic Amyloidosis During the COVID-19 Pandemic

International Society of Amyloidosis
Year: 2020

Patients with systemic amyloidosis should be considered at increased risk of complications and mortality in case of SARS-CoV2 infection. This may be particularly relevant for patients with heart involvement, because subjects with SARS-CoV2 infection and pre-existing cardiovascular disease have an increased risk of severe clinical manifestations and death. The infection has been associated with cardiovascular complications, an...

Standardization of 99m technetium Pyrophosphate Imaging Methodology to Diagnose TTR Cardiac Amyloidosis

Journal of Nuclear Cardiology
Year: 2018

Background: Technetium pyrophosphate (99mTc-PYP) imaging to diagnose transthyretin cardiac amyloidosis (ATTR-CA) has been increasingly utilized. The objective of this study is to provide a standardized 99mTc-PYP imaging protocol to diagnose ATTR-CA. Methods: 104 scans from 45 subjects with biopsy-proven ATTR-CA or light-chain cardiac amyloidosis (AL) were assessed. Multiple scans were o...

Management of Systemic AL Amyloidosis: Recommendations of the Myeloma Foundation of Australia Medical and Scientific Advisory Group

Internal Medicine Journal
Year: 2015

Systemic AL amyloidosis is a plasma cell dyscrasia with a characteristic clinical phenotype caused by multi-organ deposition of an amyloidogenic monoclonal protein. This condition poses a unique management challenge due to the complexity of the clinical presentation and the narrow therapeutic window of available therapies. Improved appreciation of the need for risk stratification, standardised use of sensitive laboratory testing for monitoring...

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Subcutaneous Daratumumab (DARA SC) Plus Cyclophosphamide, Bortezomib, and Dexamethasone (Cybord) in Patients (Pts) With Newly Diagnosed Amyloid Light Chain (AL) Amyloidosis: Safety Run-in Results of Andromeda

American Society of Clinical Oncology
Year: 2018

Background: Systemic AL amyloidosis is characterized by disposition of insoluble amyloid fibrils into tissues and organs via clonal expansion of CD38+ plasma cells. The safety run-in of DARA SC + CyBorD in ANDROMEDA (NCT03201965) is presented. Methods: Eligible pts had >=1 involved organs, ECOG score =<2, absolute neutrophil count >=1.0 × 109/L; hemoglobin >=8.0 g/dL; plate...

Daratumumab-Based Therapies in Patients With AL Amyloidosis

American Society of Clinical Oncology
Year: 2018

Background: Treatment options for patients (pts) with relapsed/refractory (RR) AL amyloidosis are limited. Daratumumab (dara) has been approved as monotherapy (DMT) or combination therapy (DCT) for multiple myeloma (MM). Data for dara-based therapy (DBT) in AL are sparse. Methods: We studied pts with RR AL without coexisting MM seen at Mayo Clinic from 11/2015 to 02/2018 & treated w...

Implanted Cardiac Defibrillator and Pacemaker Lead Function in Patient With Cardiac Amyloidosis

Journal of the American College of Cardiology
Year: 2017

Introduction:  Cardiac amyloidosis (CA) results from myocardial infiltration of amyloid proteins that leads to restrictive cardiomyopathy, heart failure, and conduction abnormalities. Low QRS voltage on surface electrocardiography is characteristic of CA, raising concern for poor R-wave sensing and elevated pacing and defibrillation thresholds in CA patients with Implantable Cardioverter Defibrillator (ICD) or pacemak...

Expert Analysis and Opinion—Understanding Cardiac Amyloidosis

American College of Cardiology Foundation
Year: 2021

Cardiac amyloidosis (CA) is a protein-folding disorder nearly exclusively caused by misfolded amyloid transthyretin (ATTR) and amyloid light chain (AL) proteins. • Name derives from Latin “amylum” (starch like). • Nomenclature: “A” for amyloid, followed by precursor protein abbreviation (e.g., AL = amyloid light chain amyloidosis). • Histologic diagnosis: Aggregates of beta-sheets that sta...

Amyloid Nomenclature 2020: Update and Recommendations by the International Society of Amyloidosis (ISA) Nomenclature Committee

Amyloid: The International Journal of Experimental and Clinical Investigation
Year: 2020

The ISA Nomenclature Committee met electronically before and directly after the XVII ISA International Symposium on Amyloidosis, which, unfortunately, had to be virtual in September 2020 due to the ongoing COVID-19 pandemic instead of a planned meeting in Tarragona in March. In addition to confirmation of basic nomenclature, several additional concepts were discussed, which are used in scientific amyloid literature. Among such concepts are c...

Genetic Testing and Counseling Program for Hereditary ATTR (hATTR) Amyloidosis Offered at No Charge – For Providers

Alnylam Pharmaceuticals, Inc.
Year: 2020

Consider genetic testing and counseling for your patients; Alnylam Act® provides one option for eligible individuals.   What Is Alnylam Act®? Alnylam Act® is a sponsored, no-charge, third-party genetic testing and counseling program for patients with a family history or suspected diagnosis of hATTR amyloidosis. The Alnylam Act® program was developed to reduce barriers to genetic testi...

Lay Summary of “TTR Gene Silencing Therapy in Post Liver Transplant Hereditary ATTR Amyloidosis Patients”

Amyloid: The International Journal of Experimental and Clinical Investigation
Year: 2020

This is an article that was recently published in the journal “Amyloid” (June 2020). Researchers from different amyloid clinics across the US reported on their experience treating patients with hATTR amyloidosis, who already underwent liver transplant, with TTR “knock down” therapy.    The rationale is as follows: 1) some people with hATTR who undergo liver transplant continue to have disease pr...

TTR Mutations

Boston University School of Medicine: Mass Spectrometry Resource
Year: N/A

Sequence Mutations of Human Transthyretin
(reported through 8/2/2001)

Find A Genetic Counselor

National Society of Genetic Counselors
Year: N/A

The Find a Genetic Counselor directory offers access to over 3,300 genetic counselors (US and Canada). Check with your insurance company to verify coverage of genetic counseling, testing and authorized providers. For more information, visit aboutgeneticcounselors.com. To start your search, tell us how you would prefer to meet with a genetic counselor. -Searches of the “In Person” directory will show genetic counselo...

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