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Amyloidosis AL

Brian Lilleness, Frederick L Ruberg, Roberta Mussinelli, Gheorghe Doros, Vaishali Sanchorawala
Immunoglobulin light chain amyloidosis (AL amyloidosis) is caused by misfolded light chains which form soluble toxic aggregates that deposit in tissues and organs leading to organ dysfunction. The leading determinant of survival is cardiac involvement. Current staging systems use N-terminal pro-brain natriuretic peptide (NT-proBNP) and cardiac troponins (TnT and TnI) for prognostication, but many centers do not offer NT-proBNP. We sought to derive a new staging system using brain natriuretic peptide (BNP) that would correlate with the Mayo 2004 staging system and be predictive for survival in AL amyloidosis...
October 17, 2018: Blood
Dorota Rowczenio, Candida C Quarta, Marianna Fontana, Carol J Whelan, Ana Martinez-Naharro, Hadija Trojer, Anna Baginska, Stuart M Ferguson, Janet Gilbertson, Tamer Rezk, Sajitha Sachchithanantham, Shameem Mahmood, Richa Manwani, Faye Sharpley, Ashutosh D Wechalekar, Philip N Hawkins, Julian D Gillmore, Helen J Lachmann
Transthyretin amyloidosis (ATTR) is caused by deposition of either wild-type (ATTRwt) or variant (ATTRm) transthyretin. ATTRwt presents with restrictive cardiomyopathy, whilst ATTRm displays a range of organ involvement. This retrospective analysis includes all patients referred to the single UK centre in the last 25 years for clinical and laboratory assessment of known or suspected amyloidosis who underwent TTR gene sequencing. 4459 patients were included in this study; 37% had final diagnosis of ATTR amyloidosis; 27% AL amyloidosis; 0...
October 17, 2018: Human Mutation
Tilmann Bochtler, Maximilian Merz, Thomas Hielscher, Martin Granzow, Korbinian Hoffmann, Alwin Krämer, Marc-Steffen Raab, Jens Hillengass, Anja Seckinger, Christoph Kimmich, Tobias Dittrich, Carsten Müller-Tidow, Dirk Hose, Hartmut Goldschmidt, Ute Hegenbart, Anna Jauch, Stefan O Schönland
Analysis of intraclonal heterogeneity has yielded insights into the clonal evolution of hematologic malignancies. We compared the clonal and subclonal compositions of the underlying plasma cell dyscrasia in 544 systemic light chain amyloidosis (PC-AL) patients with 519 patients with monoclonal gammopathy of undetermined significance (MGUS), smoldering multiple myeloma (SMM), or symptomatic MM; ie, PC-non-AL patients). Using interphase fluorescence in situ hybridization, subclones were stringently defined as clone size below two thirds of the largest clone and an absolute difference of ≥30%...
October 23, 2018: Blood Advances
C Röcken
Amyloid is a pathologic fibrillar aggregation of polypeptides in a cross-β-sheet conformation. Amyloidoses are caused by the deposition of amyloid and may occur as cerebal and extracerebral diseases. A total of 35 different amyloid proteins have been identified. The Amyloid Registry Kiel was founded in 2009 at the Department of Pathology of the Christian-Albrechts-University Kiel. It currently houses more than 6700 cases of diverse anatomical origin with histologically confirmed amyloid and amyloidosis...
October 9, 2018: Der Pathologe
Romana Ryšavá
AL amyloidosis (light chain; previously also called primary amyloidosis) is a systemic disease characterized by an amyloid deposition process affecting many organs, and which still has unsatisfactory survival of patients. The monoclonal light chains kappa (κ) or lambda (λ) or their fragments form the fibrils that deposit and accumulate in different tissues. Renal involvement is very frequent in AL amyloidosis and can lead to the development of nephrotic syndrome followed by renal failure in some cases. AL amyloidosis ultimately leads to destruction of tissues and progressive disease...
October 8, 2018: Nephrology, Dialysis, Transplantation
Jithma P Abeykoon, Saurabh Zanwar, Angela Dispenzieri, Morie A Gertz, Nelson Leung, Taxiarchis Kourelis, Wilson Gonsalves, Eli Muchtar, David Dingli, Martha Q Lacy, Suzanne R Hayman, Francis Buadi, Rahma Warsame, Robert A Kyle, Vincent Rajkumar, Shaji Kumar, Prashant Kapoor
No abstract text is available yet for this article.
September 28, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
Carlo O Martins, Cecillia Lezcano, San S Yi, Heather J Landau, Jessica R Chapman, Ahmet Dogan
No abstract text is available yet for this article.
September 27, 2018: Haematologica
Mirela Andrei, Jen Chin Wang
OBJECTIVE/BACKGROUND: Cutaneous immunoglobulin (Ig) amyloid light-chain (AL) amyloidosis associated with overt multiple myeloma (MM) is rare and optimal treatment is not well defined. The recently developed highly efficacious MM therapy has brought on a new set of challenges to this field for consideration. The goal of this paper is to describe the characteristics of cutaneous manifestations of systemic AL amyloidosis associated with MM according to age, sex, race, Ig type, plasma cell percentage, and cytogenetic and fluorescent in situ hybridization studies along with their outcomes...
September 21, 2018: Hematology/oncology and Stem Cell Therapy
Eli Muchtar, Angela Dispenzieri, Nelson Leung, Martha Q Lacy, Francis K Buadi, David Dingli, Suzanne R Hayman, Prashant Kapoor, Yi Lisa Hwa, Amie Fonder, Miriam Hobbs, Wilson Gonsalves, Taxiarchis V Kourelis, Rahma Warsame, Stephen J Russell, John A Lust, Yi Lin, Ronald S Go, Steven R Zeldenrust, Robert A Kyle, S Vincent Rajkumar, Shaji K Kumar, Morie A Gertz
No abstract text is available yet for this article.
September 26, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
Yoshito Abe, Naoki Odawara, Nantanat Aeimhirunkailas, Hinako Shibata, Naoki Fujisaki, Hirofumi Tachibana, Tadashi Ueda
BACKGROUND: Light chains are abnormally overexpressed from disordered monoclonal B-cells and form amyloid fibrils, which are then deposited on the affected organ, leading to a form of systemic amyloidosis known as AL (Amyloid Light chain) amyloidosis. A green tea catechin, epigallocatechin-3-O-gallate (EGCG), which is thought to inhibit various amyloidoses, is a potent inhibitor of amyloid fibril formation in AL amyloidosis. METHODS: An amyloidogenic variable domain in λ6 light chain mutant, Wil was incubated in the presence of EGCG...
August 6, 2018: Biochimica et biophysica acta. General subjects
Josef Marek, Tomas Palecek, Julien Magne, David Lavergne, Cyrille Boulogne, Bahaa M Fadel, Arnaud Jaccard, Ales Linhart, Dania Mohty
BACKGROUND: Fabry cardiomyopathy (FC) and light-chain amyloid cardiomyopathy (AL) present with concentric left ventricular (LV) hypertrophy/remodeling and diastolic rather than systolic dysfunction. Direct comparisons are difficult due to rarity and confounded by variability of LV thickness. AIMS: To compare LV diastolic and systolic properties between patients with FC and AL in a cohort matched for interventricular septal thickness (IVS). METHODS: A two-center echocardiographic analysis was performed, comprising 118 patients with IVS ≥12 mm (FC and AL 59 patients each) matched by IVS...
September 24, 2018: Echocardiography
Joseph Mikhael
No abstract text is available yet for this article.
September 19, 2018: Biology of Blood and Marrow Transplantation
Kai Hu, Dan Liu, Tim Salinger, Daniel Oder, Stefan Knop, Georg Ertl, Frank Weidemann, Stefan Frantz, Stefan Störk, Peter Nordbeck
Background: This study aimed to explore the value of cardiac biomarker [serum high sensitive troponin T (hs-TNT) and N-terminal pro-brain natriuretic peptide (NT-proBNP)] measurement in the differential diagnosis of infiltrative cardiomyopathy patients [Friedreich's ataxia (FA), Fabry disease (FD) and light-chain (AL) cardiac amyloidosis (CA)] with preserved left ventricular (LV) systolic function. Methods: Between 2012 and 2014, all consecutive patients presenting at our center with infiltrative cardiomyopathy and concomitant symmetrical LV hypertrophy as well as preserved LV systolic function were included in this study...
August 2018: Journal of Thoracic Disease
Tomoya Iida, Daisuke Hirayama, Gota Sudo, Kei Mitsuhashi, Hisayoshi Igarashi, Kentaro Yamashita, Hiroo Yamano, Hiroshi Nakase
A 59-year-old woman presented to our hospital with a 6-month history of nausea, weight loss, and abdominal distension. Physical examination revealed abdominal distension without tenderness, and edema, numbness, and multiple peripheral neuropathy in the limbs. Blood test results showed anemia, hypoproteinemia, and hypoalbuminemia. Immunoelectrophoresis detected kappa-type Bence-Jones protein in both the serum and urine. Bone marrow examination did not reveal an increase of plasma cells. Computed tomography showed intestinal distension and retention of intestinal contents...
September 19, 2018: Clinical Journal of Gastroenterology
Marjanne den Braber-Ymker, Sanneke Heijker, Martin Lammens, Sandra Croockewit, Iris D Nagtegaal
BACKGROUND: Gastrointestinal amyloidosis causes dysmotility. A comprehensive histological analysis to explain these symptoms is lacking. Therefore, we systematically examined histological features of intestinal dysmotility in patients with AL and AA amyloidosis, compared to controls. METHODS: Autopsy tissue material from small bowel and colon was used for histological (semiquantitative) evaluation of the mucosa, blood vessels, muscular layers, enteric nervous system (ENS) and the interstitial cells of Cajal (ICC), using hematoxylin and eosin, periodic acid Schiff, Elastic von Gieson and Congo red staining, and immunohistochemistry with α-smooth muscle actin, HuC/D, S100 and CD117 antibodies, according to guidelines of the Gastro 2009 International Working Group...
September 19, 2018: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
Talha Badar, Anita D'Souza, Parameswaran Hari
Immunoglobulin (Ig) light chain (AL) amyloidosis is a clonal plasma cell disorder characterized by misfolded Ig light chain deposition in vital organs of the body, resulting in proteotoxicity and organ dysfunction. Owing to its diverse clinical presentations and a tendency to mimic common medical conditions, AL amyloidosis is often diagnosed late and results in dismal outcomes. Early referral to a specialized center with expertise in management of AL amyloidosis is always recommended. The availability of sensitive biomarkers and novel therapies is reforming our approach to how we manage AL amyloidosis...
2018: F1000Research
Julien Labrousse, Florent Plasse, Philippe Aucher, Pierre Augereau, Anne Bertin, François Carrere, Anne-Sophie Cognée, Guillaume Vignon, Jérémie Violette, Franck Lellouche
The presence of serum monoclonal IgM is often associated with the diagnosis of Waldenström macroglobulinemia (WM) or other chronic lymphoproliferative disorders. IgM myeloma is a rare entity (0.5%). We report the case of an IgM myeloma complicated by systemic amyloidosis AL, with an impure nephrotic syndrome and a factor FX deficiency.
October 1, 2018: Annales de Biologie Clinique
Alberto Aimo, Gabriele Buda, Marianna Fontana, Andrea Barison, Giuseppe Vergaro, Michele Emdin, Giampaolo Merlini
Light-chain (AL) amyloidosis is the most common type of systemic amyloidosis, affecting around 10 people per million per year. This serious disorder is characterized by the presence of a clone of bone marrow plasma cells that produces monoclonal light chains (LCs) of the κ or predominantly λ type. These amyloidogenic LCs undergo extracellular misfolding and aggregation into proteotoxic soluble oligomers and amyloid fibrils that deposit within tissues. The lethal consequences of AL amyloidosis are due to the toxic products (the LCs) and not to the malignant behaviour of the plasma cell clone...
November 15, 2018: International Journal of Cardiology
Heiko Mahrholdt, Karin Klingel, Udo Sechtem
A fast and reliable diagnosis of cardiac amyloidosis requires a significant amount of clinical awareness. It is especially important to come to an early diagnosis in patients with cardiac AL amyloidosis in order to improve the otherwise unfavourable clinical course in these patients. There is a significant increase in the number of patients with cardiac amyloidosis of the ATTR wild-type variety. These patients are often elderly males presenting with predominantly right sided heart failure. We present a diagnostic pathway enabling a structured approach to these patients using multimodality cardiac imaging and endomyocardial biopsy...
September 2018: Deutsche Medizinische Wochenschrift
Krzysztof Batko, Jolanta Malyszko, Artur Jurczyszyn, David H Vesole, Morie A Gertz, Xavier Leleu, Anna Suska, Marcin Krzanowski, Wladyslaw Sulowicz, Jacek S Malyszko, Katarzyna Krzanowska
Monoclonal gammopathy of renal significance (MGRS) has introduced a new perspective to several well-known disease entities impacting nephrology, haematology and pathology. Given the constantly changing disease spectrum of these entities, it is clinically imperative to establish diagnostic and treatment pathways supported by evidence-based medicine. MGRS is a disease of the kidney, secondary to plasma cell clonal proliferation or immune dysfunction, requiring therapeutic intervention to eradicate the offending clone...
August 28, 2018: Nephrology, Dialysis, Transplantation
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