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A rat model expressing a human amyloidogenic kappa light chain Amyloid (IF 4.323) Pub Date : 2021-01-22 Maria Victoria Ayala; Sébastien Bender; Ignacio Anegon; Séverine Menoret; Frank Bridoux; Arnaud Jaccard; Christophe Sirac
(2021). A rat model expressing a human amyloidogenic kappa light chain. Amyloid. Ahead of Print.
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Beyond Val30Met transthyretin (TTR): variants associated with age-at-onset in hereditary ATTRv amyloidosis Amyloid (IF 4.323) Pub Date : 2021-01-18 Miguel Alves-Ferreira; Ana Azevedo; Teresa Coelho; Diana Santos; Jorge Sequeiros; Isabel Alonso; Alda Sousa; Carolina Lemos
Abstract Objectives V30M in transthyretin (TTR) gene is causative for hereditary ATTRv amyloidosis (familial amyloid polyneuropathy). ATTRv amyloidosis shows a wide variation in age-at-onset (AO) between clusters, families, and among generations. We aim at identifying genetic modifiers of disease onset that may contribute to this variability in Portuguese patients by identifying other variants in TTR
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Clarification on the definition of complete haematologic response in light-chain (AL) amyloidosis Amyloid (IF 4.323) Pub Date : 2021-01-07 Giovanni Palladini; Stefan O. Schönland; Vaishali Sanchorawala; Shaji Kumar; Ashutosh Wechalekar; Ute Hegenbart; Paolo Milani; Yukio Ando; Per Westermark; Angela Dispenzieri; Giampaolo Merlini
(2021). Clarification on the definition of complete haematologic response in light-chain (AL) amyloidosis. Amyloid. Ahead of Print.
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Apolipoprotein AI amyloid deposits in the ligamentum flavum in patients with lumbar spinal canal stenosis Amyloid (IF 4.323) Pub Date : 2020-12-11 Masayoshi Tasaki; Masamitsu Okada; Akihiro Yanagisawa; Toshiya Nomura; Hiroaki Matsushita; Akihiko Ueda; Yasuteru Inoue; Teruaki Masuda; Yohei Misumi; Taro Yamashita; Takayuki Nakamura; Takeshi Miyamoto; Konen Obayashi; Yukio Ando; Mitsuharu Ueda
Abstract Amyloidosis is a protein-misfolding disease characterised by insoluble amyloid deposits in the extracellular space of various organs and tissues, such as the brain, heart, kidneys, and ligaments. We previously reported the frequent occurrence of amyloid deposits in the ligament flavum in the presence of lumbar spinal canal stenosis (LSCS), which is a common spinal disorder in older individuals
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Real-world outcomes in non-endemic hereditary transthyretin amyloidosis with polyneuropathy: a 20-year German single-referral centre experience Amyloid (IF 4.323) Pub Date : 2020-12-07 Matthias N. Ungerer; Ernst Hund; Jan C. Purrucker; Laura Huber; Christoph Kimmich; Fabian aus dem Siepen; Selina Hein; Arnt V. Kristen; Katrin Hinderhofer; Jennifer Kollmer; Stefan Schönland; Ute Hegenbart; Markus Weiler
Abstract Background Hereditary transthyretin amyloidosis is caused by pathogenic variants in the TTR gene and typically manifests, alongside cardiac and other organ dysfunctions, with a rapidly progressive sensorimotor and autonomic polyneuropathy (ATTRv-PN) leading to severe disability. While most prospective studies have focussed on endemic ATTRv-PN, real-world data on non-endemic, mostly late-onset
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Cerebral amyloid angiopathy in a 51-year-old patient with embolization by dura mater extract and surgery for nasopharyngeal angiofibroma at age 17 Amyloid (IF 4.323) Pub Date : 2020-12-04 Paola Caroppo; Gianluca Marucci; Elio Maccagnano; Clara Luigia Gobbo; Ilaria Bizzozero; Pietro Tiraboschi; Veronica Redaelli; Marcella Catania; Giuseppe Di Fede; Luigi Caputi; Giorgio Giaccone
(2020). Cerebral amyloid angiopathy in a 51-year-old patient with embolization by dura mater extract and surgery for nasopharyngeal angiofibroma at age 17. Amyloid. Ahead of Print.
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Comment to ‘Nelson LT, Paxman RJ, Xu J, et al. Blinded potency comparison of transthyretin kinetic stabilisers by subunit exchange in human plasma’ Amyloid (IF 4.323) Pub Date : 2020-12-02 Mamoun Alhamadsheh
(2020). Comment to ‘Nelson LT, Paxman RJ, Xu J, et al. Blinded potency comparison of transthyretin kinetic stabilisers by subunit exchange in human plasma’. Amyloid. Ahead of Print.
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Amyloid nomenclature 2020: update and recommendations by the International Society of Amyloidosis (ISA) nomenclature committee Amyloid (IF 4.323) Pub Date : 2020-10-26 Merrill D. Benson; Joel N. Buxbaum; David S. Eisenberg; Giampaolo Merlini; Maria J. M. Saraiva; Yoshiki Sekijima; Jean D. Sipe; Per Westermark
Abstract 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
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New data on the genetic profile and penetrance of hereditary Val30Met transthyretin amyloidosis in Sweden Amyloid (IF 4.323) Pub Date : 2020-11-04 Farida Gorram; Malin Olsson; Flora Alarcon; Gregory Nuel; Intissar Anan; Violaine Planté-Bordeneuve
Abstract Introduction Hereditary transthyretin (ATTRv) amyloidosis is of autosomal dominant transmission, caused by a spectrum of mutations in the transthyretin (TTR) gene. The ATTRV30M (p.Val50Met) is the most frequent substitution in Europe. Northern Sweden is a known cluster for ATTRV30M amyloidosis patients due to high prevalence of the mutation rate, with homozygous cases. First symptoms occur
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EGF-containing fibulin-like extracellular matrix protein 1 amyloid incidentally found in surgically resected specimens of Colon cancer: a case report emphasising on an unrecognised type Amyloid (IF 4.323) Pub Date : 2020-11-02 Yoshitane Tsukamoto; Masayoshi Tasaki; Hitoshi Fujii; Masaki Tsujie; Mitsuharu Ueda
(2020). EGF-containing fibulin-like extracellular matrix protein 1 amyloid incidentally found in surgically resected specimens of Colon cancer: a case report emphasising on an unrecognised type. Amyloid. Ahead of Print.
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The role of induction therapy before autologous stem cell transplantation in low disease burden AL amyloidosis patients Amyloid (IF 4.323) Pub Date : 2020-10-21 Xianghua Huang; Guisheng Ren; Wencui Chen; Jinzhou Guo; Liang Zhao; Caihong Zeng; Yongchun Ge; Zhihong Liu
Abstract Background Induction therapy is recommended before autologous stem cell transplantation (ASCT) for AL amyloidosis patients with high disease burden [bone marrow plasma cells (BMPCs) > 10%], but the role of induction therapy before ASCT in patients with low disease burden (BMPCs ≤ 10%) is still unknown. Methods A total of 227 patients with AL amyloidosis were included in this study. Among 227
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DISCOVERY: prevalence of transthyretin (TTR) mutations in a US-centric patient population suspected of having cardiac amyloidosis: a comment Amyloid (IF 4.323) Pub Date : 2020-10-12 Ana Roteta Unceta Barrenechea; Carmen Lahuerta Pueyo; Jorge Melero Polo; Sebastián Menao Guillén; Alejandro Andrés Gracia; Pablo Revilla Marti; Miguel Ángel Aibar Arregui
(2020). DISCOVERY: prevalence of transthyretin (TTR) mutations in a US-centric patient population suspected of having cardiac amyloidosis: a comment. Amyloid. Ahead of Print.
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Full-length TDP-43 and its C-terminal domain form filaments in vitro having non-amyloid properties Amyloid (IF 4.323) Pub Date : 2020-10-07 Claudia Capitini; Giulia Fani; Mirella Vivoli Vega; Amanda Penco; Claudio Canale; Lisa D. Cabrita; Martino Calamai; John Christodoulou; Annalisa Relini; Fabrizio Chiti
Abstract Accumulation of ubiquitin-positive, tau- and α-synuclein-negative intracellular inclusions of TDP-43 in the central nervous system represents the major hallmark correlated to amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U). Such inclusions have variably been described as amorphous aggregates or more structured deposits having
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Subclinical retinal angiopathy associated with hereditary transthyretin amyloidosis – assessed with optical coherence tomography angiography Amyloid (IF 4.323) Pub Date : 2020-09-30 João Heitor Marques; João Coelho; Jorge Malheiro; Bernardete Pessoa; João Melo Beirão
Abstract Background Retinal angiopathy is a known ocular manifestation of hereditary transthyretin amyloidosis (ATTRv). Optical coherence tomography angiography (OCT-A) is a recent noninvasive imaging technique, used in other retinal vascular diseases. Our purpose was to analyse subclinical changes in retinal vessels, with OCT-A, in patients with ATTRv amyloidosis. Methods Observational cross-sectional
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Arterial thrombo-embolic events in cardiac amyloidosis: a look beyond atrial fibrillation. Amyloid (IF 4.323) Pub Date : 2020-09-28 Francesco Cappelli,Giacomo Tini,Domitilla Russo,Michele Emdin,Annamaria Del Franco,Giuseppe Vergaro,Gianluca Di Bella,Anna Mazzeo,Marco Canepa,Massimo Volpe,Federico Perfetto,Camillo Autore,Carlo Di Mario,Claudio Rapezzi,Maria Beatrice Musumeci
Abstract Background Intracardiac thrombosis is reported to occur frequently in cardiac amyloidosis (CA). However, data regarding arterial thrombo-embolic events (AEs) in CA are limited. We aimed at assessing prevalence, clinical characteristics and predictors of AEs in a large multicentric CA cohort. Methods and results Four-hundred-six consecutive CA patients (134 AL, 73 ATTRm and 199 ATTRwt) from
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Neurofilament light chain, a biomarker for polyneuropathy in systemic amyloidosis. Amyloid (IF 4.323) Pub Date : 2020-09-04 Jelger Louwsma,Anne F Brunger,Johan Bijzet,Bart J Kroesen,Wilfried W H Roeloffzen,Antje Bischof,Jens Kuhle,Gea Drost,Fiete Lange,Jan B M Kuks,Reinold O B Gans,Bouke P C Hazenberg,Hans L A Nienhuis
Objective To study serum neurofilament light chain (sNfL) in amyloid light chain (AL) amyloidosis patients with and without polyneuropathy (PNP) and to corroborate previous observations that sNfL is increased in hereditary transthyretin-related (ATTRv) amyloidosis patients with PNP. Methods sNfL levels were assessed retrospectively in patients with AL amyloidosis with and without PNP (AL/PNP+ and AL/PNP–
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Dialysis-related amyloidosis associated with a novel β2-microglobulin variant. Amyloid (IF 4.323) Pub Date : 2020-09-02 Hiroki Mizuno,Junichi Hoshino,Masatomo So,Yuta Kogure,Takeshi Fujii,Yoshifumi Ubara,Kenmei Takaichi,Tetsuko Nakaniwa,Hideaki Tanaka,Genji Kurisu,Fuyuki Kametani,Mayuko Nakagawa,Tsuneaki Yoshinaga,Yoshiki Sekijima,Keiichi Higuchi,Yuji Goto,Masahide Yazaki
Till date, there had been no reported case of dialysis-related amyloidosis (DRA) associated with a β2-microglobulin variant. We report here a 41-year-old haemodialysis patient with systemic amyloidosis, exhibiting macroglossia and swelling salivary glands, uncommon clinical manifestations for DRA. Molecular analysis showed that the patient had a new variant of β2-microglobulin (V27M). Extracted amyloid
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Proteomic analysis shows that the main constituent of subepidermal localised cutaneous amyloidosis is not galectin-7. Amyloid (IF 4.323) Pub Date : 2020-09-01 Jessica R Chapman,Anna Liu,San S Yi,Enmily Hernandez,Maria Stella Ritorto,Achim A Jungbluth,Melissa Pulitzer,Ahmet Dogan
Lichen or macular localised cutaneous amyloidoses have long been described as keratinic amyloidoses and believed to be due to the deposition of cytokeratin peptides originating from epidermis in the dermal papillae. However, recently it was suggested that galectin-7 is the causative protein for this type of amyloidosis. This was based on the detection of galectin-7 in a biopsy from a patient diagnosed
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Anticoagulation with warfarin compared to novel oral anticoagulants for atrial fibrillation in adults with transthyretin cardiac amyloidosis: comparison of thromboembolic events and major bleeding. Amyloid (IF 4.323) Pub Date : 2020-08-19 Lindsey R Mitrani,Jeffeny De Los Santos,Elissa Driggin,Rebecca Kogan,Stephen Helmke,Jeff Goldsmith,Angelo B Biviano,Mathew S Maurer
Background Atrial fibrillation (AF) is common in patients with transthyretin cardiac amyloidosis (ATTR-CA). The optimal strategy to prevent strokes in patients with ATTR-CA and AF is unknown. Objectives To compare outcomes in patients with ATTR-CA and AF treated with warfarin versus novel oral anticoagulants (NOACs). Methods This study was a retrospective analysis of patients with ATTR-CA stratified
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Blinded potency comparison of transthyretin kinetic stabilisers by subunit exchange in human plasma. Amyloid (IF 4.323) Pub Date : 2020-08-18 Luke T Nelson,Ryan J Paxman,Jin Xu,Bill Webb,Evan T Powers,Jeffery W Kelly
Abstract Transthyretin (TTR) tetramer dissociation is rate limiting for aggregation and subunit exchange. Slowing of TTR tetramer dissociation via kinetic stabiliser binding slows cardiomyopathy progression. Quadruplicate subunit exchange comparisons of the drug candidate AG10, and the drugs tolcapone, diflunisal, and tafamidis were carried out at 1, 5, 10, 20 and 30 µM concentrations in 4 distinct
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Next generation flow cytometry for MRD detection in patients with AL amyloidosis. Amyloid (IF 4.323) Pub Date : 2020-08-12 Esftathios Kastritis,Ioannis V Kostopoulos,Foteini Theodorakakou,Despina Fotiou,Maria Gavriatopoulou,Magdalini Migkou,Maria Irini Tselegkidi,Maria Roussou,Alexandra Papathoma,Evangelos Eleutherakis-Papaioakovou,Ioanna Dialoupi,Nikolaos Kanellias,Argyrios Ntalianis,Pantelis Rousakis,Ioannis P Trougakos,Ourania Tsitsilonis,Charikleia Gakiopoulou,Evangelos Terpos,Meletios A Dimopoulos
The treatment of AL amyloidosis aims to eradicate the plasma cell clone and eliminate toxic free light chain production. Only in a minority of patients the plasma cell clone is completely eradicated; residual light chain production may still exist while clonal relapse may occur. We used sensitive next-generation flow cytometry (NGF) to detect minimal residual disease (MRD) in AL amyloidosis patients
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Non-invasive detection and differentiation of cardiac amyloidosis using 99mTc-pyrophosphate scintigraphy and 11C-Pittsburgh compound B PET imaging. Amyloid (IF 4.323) Pub Date : 2020-07-28 Ken Takasone,Nagaaki Katoh,Yusuke Takahashi,Ryuta Abe,Naoki Ezawa,Tsuneaki Yoshinaga,Shin Yanagisawa,Masahide Yazaki,Kazuhiro Oguchi,Jun Koyama,Yoshiki Sekijima
Abstract Purpose To investigate the utility of the combined use of 11C-Pittsburgh compound B (11C-PiB) positron emission tomography (PET) imaging and 99mTc-pyrophosphate (99mTc-PYP) scintigraphy for detection and differentiation of three major types of cardiac amyloidosis, i.e. immunoglobulin light chain (AL), hereditary transthyretin (ATTRv), and wild-type transthyretin (ATTRwt) amyloidosis. Methods
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Timing and impact of a deep response in the outcome of patients with systemic light chain (AL) amyloidosis. Amyloid (IF 4.323) Pub Date : 2020-07-27 Efstathios Kastritis,Despina Fotiou,Foteini Theodorakakou,Ioanna Dialoupi,Magdalini Migkou,Maria Roussou,Eleni A Karatrasoglou,Maria Irini Tselegkidi,Argyrios Ntalianis,Nikolaos Kanellias,Evangelos Eleutherakis-Papaiakovou,Ioannis Ntanasis-Stathopoulos,Charikleia Gakiopoulou,Asimina Papanikolaou,Alexandra Papathoma,Marylin Spyropoulou-Vlachou,Erasmia Psimenou,Kimon Stamatelopoulos,Maria Gavriatopoulou
A rapid and deep haematologic response is fundamental in order to improve outcomes of patients with AL amyloidosis. We evaluated the impact of timing and depth of haematologic response at early time points (at 1 and 3 months from the start of therapy) in 227 consecutive previously untreated AL patients, who received bortezomib-based primary therapy. After 1 month of therapy, 30.5% had ≥VGPR, 28% PR
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ATTRv amyloidosis Italian Registry: clinical and epidemiological data. Amyloid (IF 4.323) Pub Date : 2020-07-22 Massimo Russo,Laura Obici,Ilaria Bartolomei,Francesco Cappelli,Marco Luigetti,Silvia Fenu,Tiziana Cavallaro,Maria Grazia Chiappini,Chiara Gemelli,Luca Guglielmo Pradotto,Fiore Manganelli,Luca Leonardi,Filomena My,Simone Sampaolo,Chiara Briani,Luca Gentile,Claudia Stancanelli,Eleonora Di Buduo,Paolo Pacciolla,Fabrizio Salvi,Silvia Casagrande,Giulia Bisogni,Daniela Calabrese,Fiammetta Vanoli,Giuseppe
Abstract Introduction ATTRv amyloidosis is worldwide spread with endemic foci in Portugal and Sweden, Japan, Brazil, Maiorca, and Cyprus. A national Registry was developed to characterise the epidemiology and genotype-phenotype correlation of ATTRv amyloidosis in Italy and to allow a better planning of diagnostic and therapeutic services. Methods Fifteen Italian referral centres for amyloidosis spread
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The sensitivity of DPD scintigraphy to detect transthyretin cardiac amyloidosis in V30M mutation depends on the phenotypic expression of the disease. Amyloid (IF 4.323) Pub Date : 2020-06-02 Maria C Azevedo Coutinho,Nuno Cortez-Dias,Guilhermina Cantinho,Susana Gonçalves,Miguel Nobre Menezes,Tatiana Guimarães,Gustavo Lima da Silva,Ana Rita Francisco,João Agostinho,Laura Santos,Isabel Conceição,Fausto J Pinto
(2020). The sensitivity of DPD scintigraphy to detect transthyretin cardiac amyloidosis in V30M mutation depends on the phenotypic expression of the disease. Amyloid: Vol. 27, No. 3, pp. 174-183.
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Transthyretin-stabilising mutation T119M is not associated with protection against vascular disease or death in the UK Biobank. Amyloid (IF 4.323) Pub Date : 2020-05-19 Margaret M Parker,Simina Ticau,James Butler,David Erbe,Madeline Merkel,Emre Aldinc,Gregory Hinkle,Paul Nioi
Abstract Background: Destabilised transthyretin (TTR) can result in the progressive, fatal disease transthyretin-mediated (ATTR) amyloidosis. A stabilising TTR mutation, T119M, is the basis for a therapeutic strategy to reduce destabilised TTR. Recently, T119M was associated with extended lifespan and lower risk of cerebrovascular disease in a Danish cohort. We aimed to determine whether this finding
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Quantification of cardiac amyloid with [18F]Flutemetamol in patients with V30M hereditary transthyretin amyloidosis. Amyloid (IF 4.323) Pub Date : 2020-05-13 Sofia Möckelind,Jan Axelsson,Björn Pilebro,Per Lindqvist,Ole B Suhr,Torbjörn Sundström
Abstract Background: Hereditary transthyretin amyloid (ATTRv) is a systemic amyloidosis with mainly neurological and cardiac symptoms. The aim of this study was to evaluate the outcome of [18F]Flutemetamol PET/CT-scan of the heart in long-term survivors with ATTRV30M amyloidosis. Methods: Twenty-one patients with ATTRV30M amyloidosis and predominantly neurological symptoms, mainly negative on cardiac
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Rapid response to single agent daratumumab is associated with improved progression-free survival in relapsed/refractory AL amyloidosis. Amyloid (IF 4.323) Pub Date : 2020-05-15 Oliver C Cohen,Maximillian H Brodermann,Iona J Blakeney,Shameem Mahmood,Sajitha Sachchithanantham,Sriram Ravichandran,Steven Law,Helen J Lachmann,Carol J Whelan,Rakesh Popat,Neil Rabin,Kwee Yong,Charalampia Kyriakou,Raakhee Shah,Simon Cheesman,Sarah Worthington,Philip Hawkins,Julian D Gillmore,Ashutosh D Wechalekar
Background: Daratumumab is a monoclonal antibody, which targets CD38; an antigen expressed on malignant plasma cells in AL amyloidosis thus providing a rationale for its use. Method: Patients treated with daratumumab monotherapy (2016–2019) for relapsed/refractory systemic AL amyloidosis were identified from the database at the UK National Amyloidosis Centre. Results: Of 50 evaluable patients, haematological
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Renal calcitonin amyloidosis in a patient with disseminated medullary thyroid carcinoma. Amyloid (IF 4.323) Pub Date : 2020-05-19 Ying Tan,Dan-Yang Li,Tian-Tian Ma,Rong Xu,Fu-de Zhou,Su-Xia Wang,Ming-Hui Zhao
(2020). Renal calcitonin amyloidosis in a patient with disseminated medullary thyroid carcinoma. Amyloid: Vol. 27, No. 3, pp. 213-214.
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Anticipation on age at onset in kindreds with hereditary ATTRV30M amyloidosis from the Majorcan cluster. Amyloid (IF 4.323) Pub Date : 2020-07-07 Eugenia Cisneros-Barroso,Juan González-Moreno,Adrian Rodríguez,Tomas Ripoll-Vera,Jorge Álvarez,Mercedes Usón,Antonio Figuerola,Cristina Descals,Carles Montalá,Maria Asunción Ferrer-Nadal,Ines Losada
Abstract Background Hereditary transthyretin amyloidosis (ATTRV30M) is a rare disease caused by amyloid deposition and characterized by a heterogeneous presentation. Anticipation (AC) is described as the decrease in age at onset (AO) within each generation. Our aim was to study AC in a large number of ATTRV30M kindred from Majorca (Spain), and gain further insight into parent-of-origin effects. Methods
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A case of novel amyloidosis: glucagon-derived amyloid deposition associated with pancreatic neuroendocrine tumour. Amyloid (IF 4.323) Pub Date : 2020-06-29 Shojiro Ichimata,Nagaaki Katoh,Ryuta Abe,Tsuneaki Yoshinaga,Fuyuki Kametani,Masahide Yazaki,Takeshi Uehara,Yoshiki Sekijima
(2020). A case of novel amyloidosis: glucagon-derived amyloid deposition associated with pancreatic neuroendocrine tumour. Amyloid. Ahead of Print.
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TTR gene silencing therapy in post liver transplant hereditary ATTR amyloidosis patients. Amyloid (IF 4.323) Pub Date : 2020-06-24 Orly Moshe-Lilie,Diana Dimitrova,Stephen B Heitner,Thomas H Brannagan,Sasha Zivkovic,Mazen Hanna,Ahmad Masri,Michael Polydefkis,John L Berk,Morie A Gertz,Chafic Karam
Abstract Objective Patients with hereditary transthyretin (TTR) amyloidosis (hATTR) often experience disease progression after orthotopic liver transplant (POLT) due in part to wild type ATTR amyloid deposition. The management strategy is not defined. We propose that TTR gene silencing with an antisense oligonucleotide or a small interfering ribonucleic acid may be a treatment for these patients. Methods
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New visceral manifestations of fibrinogen alpha-chain amyloidosis. Amyloid (IF 4.323) Pub Date : 2020-06-24 Arnaud Lionet,Jean-Baptiste Gibier,Viviane Gnemmi,Celine Lebas,Marc Hazzan
(2020). New visceral manifestations of fibrinogen alpha-chain amyloidosis. Amyloid: Vol. 27, No. 4, pp. 281-282.
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Presence of t(11;14) in AL amyloidosis as a marker of response when treated with a bortezomib-based regimen. Amyloid (IF 4.323) Pub Date : 2020-06-19 Brett Dumas,Hassan Yameen,Shayna Sarosiek,J Mark Sloan,Vaishali Sanchorawala
Abstract The proteasome inhibitor, bortezomib, has become a backbone for the first line treatment of patients with AL amyloidosis who are not eligible for high dose melphalan and stem cell transplantation. The presence of t(11;14), seen in up to 40–60% of patients with AL amyloidosis, may be associated with poorer response when treated with bortezomib based regimens. This remains a critical distinction
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From a misdiagnosis of anorexia nervosa to a dramatic patisiran-induced improvement in a patient with ATTRE89Q amyloidosis. Amyloid (IF 4.323) Pub Date : 2020-06-09 Massimo Russo,Luca Gentile,Antonio Toscano,Giuseppe Vita,Anna Mazzeo
(2020). From a misdiagnosis of anorexia nervosa to a dramatic patisiran-induced improvement in a patient with ATTRE89Q amyloidosis. Amyloid: Vol. 27, No. 4, pp. 279-280.
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When to suspect transthyretin amyloidosis in cases of isolated vitreous opacities? Amyloid (IF 4.323) Pub Date : 2020-06-05 Barthélémy Poignet,Cécile Cauquil,Emmanuel Barreau,Bahram Bodaghi,Céline Terrada,David Adams,Bruno Francou,Marc Labetoulle,Antoine Rousseau
(2020). When to suspect transthyretin amyloidosis in cases of isolated vitreous opacities? Amyloid: Vol. 27, No. 4, pp. 277-278.
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DISCOVERY: prevalence of transthyretin (TTR) mutations in a US-centric patient population suspected of having cardiac amyloidosis. Amyloid (IF 4.323) Pub Date : 2020-05-26 Ola Akinboboye,Keyur Shah,Alberta L Warner,Thibaud Damy,Herman A Taylor,Jared Gollob,Christine Powell,Verena Karsten,John Vest,Mathew S Maurer
Abstract Background Hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) is a multisystem disease that presents with polyneuropathy and/or cardiomyopathy. Methods DISCOVERY, a multicenter screening study, enrolled patients with clinically suspected cardiac amyloidosis to determine the frequency of transthyretin (TTR) mutations and assess disease characteristics. Results Of 1007 patients
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Pomalidomide and dexamethasone grant rapid haematologic responses in patients with relapsed and refractory AL amyloidosis: a European retrospective series of 153 patients. Amyloid (IF 4.323) Pub Date : 2020-05-25 Paolo Milani,Faye Sharpley,Stefan O Schönland,Marco Basset,Shameem Mahmood,Mario Nuvolone,Christoph Kimmich,Andrea Foli,Sajitha Sachchithanantham,Giampaolo Merlini,Ashutosh Wechalekar,Giovanni Palladini,Ute Hegenbart
Abstract Pomalidomide demonstrated activity in the treatment of AL amyloidosis in three phase II clinical trials. We evaluated the safety and efficacy of 28-day cycles of pomalidomide and dexamethasone in 153 previously treated patients with systemic AL amyloidosis. Ninety-nine (65%) were refractory to the last line of therapy and 54 (35%) had relapsed. The median number of previous lines of therapy
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Cardiac sympathetic denervation in wild-type transthyretin amyloidosis. Amyloid (IF 4.323) Pub Date : 2020-05-22 Alessia Gimelli,Alberto Aimo,Giuseppe Vergaro,Dario Genovesi,Valeria Santonato,Annette Kusch,Michele Emdin,Paolo Marzullo
Abstract Background Tissue accumulation of misfolded transthyretin (TTR) may occur because of TTR gene mutations (variant amyloid TTR amyloidosis, ATTRv), or as an age-related phenomenon (wild-type ATTR, ATTRwt). Cardiac sympathetic denervation has been reported in ATTRv, but has never been investigated in ATTRwt. Methods Fifteen consecutive patients with ATTRwt cardiomyopathy (81% men, median age
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Two types of systemic amyloidosis in a single patient. Amyloid (IF 4.323) Pub Date : 2020-05-06 Riccardo Papa,Janet A Gilbertson,Nigel Rendell,Ashutosh D Wechalekar,Julian D Gillmore,Philip N Hawkins,Helen J Lachmann
(2020). Two types of systemic amyloidosis in a single patient. Amyloid: Vol. 27, No. 4, pp. 275-276.
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Electrochemical skin conductance values suggest frequent subclinical autonomic involvement in patients with AL amyloidosis Amyloid (IF 4.323) Pub Date : 2020-04-30 Alexis Montcuquet; Mathilde Duchesne; Olivier Roussellet; Arnaud Jaccard; Laurent Magy
(2020). Electrochemical skin conductance values suggest frequent subclinical autonomic involvement in patients with AL amyloidosis. Amyloid: Vol. 27, No. 3, pp. 215-216.
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Coexistence of wild type and hereditary ATTR amyloidosis in one family. Amyloid (IF 4.323) Pub Date : 2019-11-13 Josine G Feenstra,Hans L A Nienhuis,Johan Bijzet,Paul A van der Zwaag,Maarten P van den Berg,Bouke P C Hazenberg
(2020). Coexistence of wild type and hereditary ATTR amyloidosis in one family. Amyloid: Vol. 27, No. 1, pp. 71-72.
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Misdiagnosis of hATTR amyloidosis: a single US site experience. Amyloid (IF 4.323) Pub Date : 2019-10-04 Chafic Karam,Diana Dimitrova,Stephen B Heitner
(2020). Misdiagnosis of hATTR amyloidosis: a single US site experience. Amyloid: Vol. 27, No. 1, pp. 69-70.
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Isolated light chain deposition disease neuropathy in a patient with multiple myeloma. Amyloid (IF 4.323) Pub Date : 2019-09-28 Angela Romano,Vittorio Riso,Giulia Bisogni,Andrea Di Paolantonio,Elena Rossi,Mario Sabatelli,Serenella Servidei,Marco Luigetti
(2020). Isolated light chain deposition disease neuropathy in a patient with multiple myeloma. Amyloid: Vol. 27, No. 1, pp. 67-68.
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Immunoelectron microscopy and mass spectrometry for classification of amyloid deposits. Amyloid (IF 4.323) Pub Date : 2019-11-21 Niels Abildgaard,Aleksandra M Rojek,Hanne Eh Møller,Nicolai Bjødstrup Palstrøm,Charlotte Guldborg Nyvold,Lars Melholt Rasmussen,Charlotte Toftmann Hansen,Hans Christian Beck,Niels Marcussen
Amyloidosis is a shared name for several rare, complex and serious diseases caused by extra-cellular deposits of different misfolded proteins. Accurate characterization of the amyloid protein is essential for patient care. Immunoelectron microscopy (IEM) and laser microdissection followed by tandem mass spectrometry (LMD-MS) are new gold standards for molecular subtyping. Both methods perform superiorly
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Inotersen therapy of transthyretin amyloid cardiomyopathy. Amyloid (IF 4.323) Pub Date : 2019-11-12 Noel R Dasgupta,Stacy M Rissing,Jessica Smith,Jeesun Jung,Merrill D Benson
Background: Cardiomyopathy is a major cause of death in patients with systemic transthyretin amyloidosis. Long term effect of therapy designed to inhibit hepatic production of the amyloid precursor has not been established in cardiomyopathy. The purpose of this study was to evaluate the long term safety and efficacy of transthyretin specific antisense oligonucleotide therapy, inotersen, in transthyretin
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APOE polymorphism in ATTR amyloidosis patients treated with lipid nanoparticle siRNA. Amyloid (IF 4.323) Pub Date : 2019-10-25 Christoph Niemietz,Oksana Nadzemova,Andree Zibert,Hartmut H-J Schmidt
The novel class of compounds represented by lipid nanoparticle (LNP)-encapsulated siRNA formulations has an enormous potential to target disease, notably of the liver. Endocytosis of LNPs is believed to be mediated by APOE, an important serum protein of lipoprotein homeostasis. APOE polymorphisms affect binding to hepatic receptors and have been associated with development of specific disease. Here
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Genomic profiling in amyloid light-chain amyloidosis reveals mutation profiles associated with overall survival. Amyloid (IF 4.323) Pub Date : 2019-10-22 Xu-Fei Huang,Sun Jian,Jun-Liang Lu,Kai-Ni Shen,Jun Feng,Cong-Li Zhang,Zhuang Tian,Jia-Li Wang,Wan-Jun Lei,Xin-Xin Cao,Dao-Bin Zhou,Zhi-Yong Liang,Jian Li
Background: Amyloid light chain (AL) amyloidosis is characterized by tissue deposition of amyloid fibres derived from immunoglobulin that can lead to irreversible organ damage. Information about genomic profiles of AL amyloidosis is lacking.Methods: In this study, we adopted a two-step strategy to investigate the mutational profile of AL amyloidosis bone marrow plasma cells (PCs) and their clinical
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Needle-shaped amyloid deposition in rat mammary gland: evidence of a novel amyloid fibril protein. Amyloid (IF 4.323) Pub Date : 2019-10-15 Tomoaki Murakami,Keiichi Noguchi,Naomi Hachiya,Fuyuki Kametani,Masayoshi Tasaki,Satoshi Nakaba,Yukiko Sassa,Taro Yamashita,Konen Obayashi,Yukio Ando,Masao Hamamura,Takeshi Kanno,Kazufumi Kawasako
Amyloidosis is an extremely rare event in rats. In this study, we report that lipopolysaccharide binding protein (LBP) is the most likely amyloidogenic protein in rat mammary amyloidosis. Histologically, corpora amylacea (CA) and stromal amyloid (SA) were observed in rat mammary glands, and needle-shaped amyloid (NA) was also observed on the surface or gap of CA and SA. Following surveillance in aged
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The utility of repeat kidney biopsy in systemic immunoglobulin light chain amyloidosis. Amyloid (IF 4.323) Pub Date : 2019-10-09 Avital Angel-Korman,Aala Jaberi,Vaishali Sanchorawala,Andrea Havasi
Background: The diagnostic utility of repeat kidney biopsy in AL amyloidosis patients in complete (CR) or very good partial hematologic response (VGPR) but with renal organ relapse is not clear.Methods: We present eight patients with AL amyloidosis who had a repeat kidney biopsy performed.Results: AL amyloidosis was initially diagnosed by a kidney biopsy. All patients had a favorable response to treatment
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Survival impact of achieving minimal residual negativity by multi-parametric flow cytometry in AL amyloidosis. Amyloid (IF 4.323) Pub Date : 2019-09-23 Eli Muchtar,Angela Dispenzieri,Dragan Jevremovic,David Dingli,Francis K Buadi,Martha Q Lacy,Wilson Gonsalves,Rahma Warsame,Taxiarchis V Kourelis,Suzanne R Hayman,Prashant Kapoor,Nelson Leung,Stephen Russell,John A Lust,Yi Lin,Ronald S Go,Steven Zeldenrust,Robert A Kyle,S Vincent Rajkumar,Shaji K Kumar,Morie A Gertz
Response assessment in light chain (AL) amyloidosis is challenging given the low level of circulating free light chains usually seen. Multi-parametric flow cytometry (MFC) from a marrow aspirate was demonstrated to retain a prognostic significance in several recent studies. In this work, 82 AL patients who had MFC study at end of therapy were analysed based on whether clonal plasma cells were detected
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Causes of AA amyloidosis: a systematic review. Amyloid (IF 4.323) Pub Date : 2019-11-25 Anne Floor Brunger,Hans L A Nienhuis,Johan Bijzet,Bouke P C Hazenberg
From a clinical perspective, there is a need for a reliable and comprehensive list of diseases causing AA amyloidosis. This list could guide clinicians in the evaluation of patients with AA amyloidosis in whom an obvious cause is lacking. In this systematic review, a PubMed, Embase and Web of Science literature search were performed on causes of AA amyloidosis published in the last four decades. Initially
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Bioelectrical impedance vector analysis-derived phase angle predicts survival in patients with systemic immunoglobulin light-chain amyloidosis. Amyloid (IF 4.323) Pub Date : 2020-03-26 Riccardo Caccialanza,Emanuele Cereda,Catherine Klersy,Paolo Milani,Silvia Cappello,Valentina Martinelli,Annalisa Turri,Marco Basset,Valeria Borioli,Mario Nuvolone,Marilisa Caraccia,Francesca Lavatelli,Sara Masi,Federica Lobascio,Andrea Foli,Giampaolo Merlini,Giovanni Palladini
Background: The aim of the present prospective study (ClinicalTrials.gov Identifier: NCT02111538) was to assess the prognostic value of phase angle (PhA), derived from bioimpedance vectorial analysis (BIVA), in patients affected by systemic amyloid light-chain (AL) amyloidosis. Methods: One hundred-twenty seven consecutive newly diagnosed, treatment-naïve patients with histologically confirmed AL amyloidosis
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Quality of life outcomes in APOLLO, the phase 3 trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis. Amyloid (IF 4.323) Pub Date : 2020-03-04 Laura Obici,John L Berk,Alejandra González-Duarte,Teresa Coelho,Julian Gillmore,Hartmut H-J Schmidt,Matthias Schilling,Taro Yamashita,Céline Labeyrie,Thomas H Brannagan,Senda Ajroud-Driss,Peter Gorevic,Arnt V Kristen,Jaclyn Franklin,Jihong Chen,Marianne T Sweetser,Jing Jing Wang,David Adams
Abstract Introduction: Hereditary transthyretin-mediated (hATTR) amyloidosis is a rare, fatal, multisystem disease leading to deteriorating quality of life (QOL). The impact of patisiran on QOL in patients with hATTR amyloidosis with polyneuropathy from the phase 3 APOLLO study (NCT01960348) is evaluated. Methods: Patients received either patisiran 0.3 mg/kg (n = 148) or placebo (n = 77) intravenously
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Treatment with daratumumab in patients with relapsed/refractory AL amyloidosis: a multicentric retrospective study and review of the literature. Amyloid (IF 4.323) Pub Date : 2020-02-28 Ramón Lecumberri,Isabel Krsnik,Elham Askari,Maialen Sirvent,Marta S González-Pérez,Fernando Escalante,Virginia Pradillo,Luis E Tamariz,Verónica Cánovas,Adrián Alegre,Mercedes Gironella,María E González-García,María S Infante,Sunil Lakhwani,Cristina Martínez-Bilbao,Victoria Dourdil,Ángel Ramírez-Payer,José Sarrá,M Teresa Cibeira
Management of patients with relapsed or refractory (R/R) AL amyloidosis is complex. Some initial reports have shown positive results with daratumumab in heavily pre-treated AL amyloidosis patients. In this retrospective multicentric study, 38 patients (mean age 64 ± 9 years) with R/R AL amyloidosis treated with daratumumab were included. Cardiac and renal involvement was present in 76 and 74% of patients
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Lysozyme amyloid: evidence for the W64R variant by proteomics in the absence of the wild type protein. Amyloid (IF 4.323) Pub Date : 2020-02-18 Alexandra Moura,Paola Nocerino,Janet A Gilbertson,Nigel B Rendell,P Patrizia Mangione,Guglielmo Verona,Dorota Rowczenio,Julian D Gillmore,Graham W Taylor,Vittorio Bellotti,Diana Canetti
(2020). Lysozyme amyloid: evidence for the W64R variant by proteomics in the absence of the wild type protein. Amyloid: Vol. 27, No. 3, pp. 206-207.
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A real-life cohort study of immunoglobulin light-chain (AL) amyloidosis patients ineligible for autologous stem cell transplantation due to severe cardiac involvement or advanced disease. Amyloid (IF 4.323) Pub Date : 2020-02-13 Anne F Brunger,Hans L A Nienhuis,Johan Bijzet,Wilfried W H Roeloffzen,Edo Vellenga,Bouke P C Hazenberg
Abstract Objective: To study the outcome of patients with AL amyloidosis who were ineligible for high dose melphalan (HDM) and autologous stem cell transplantation (ASCT). Methods: A real-life retrospective observational cohort study of Dutch patients with AL amyloidosis ineligible for HDM and ASCT was performed at the University Medical Center Groningen from January 2001 until April 2017. Primary
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Geographic variation in public interest about amyloidosis in the United States and English speaking countries. Amyloid (IF 4.323) Pub Date : 2020-02-13 Jacqueline Vuong,Avinainder Singh,Rodney H Falk,Raina Merchant,Sharmila Dorbala
(2020). Geographic variation in public interest about amyloidosis in the United States and English speaking countries. Amyloid: Vol. 27, No. 3, pp. 210-212.