1,879 results match your criteria Amyloidosis Primary Systemic


Diverse patterns of antibody variable gene repertoire disruption in patients with amyloid light chain (AL) amyloidosis.

PLoS One 2020 7;15(7):e0235713. Epub 2020 Jul 7.

Department of Pathology Microbiology, and Immunology, Vanderbilt University Medical Center, Nashville, TN, United States of America.

Immunoglobulin light chain amyloidosis is the most common form of systemic amyloidosis. AL amyloidosis is caused by a misfolded light chain produced by a clonal population of plasma cells. Disease status currently is defined by measuring the absolute quantity of serum free light chain protein, but this measurement often fails to identify the subclinical presence of clonal cells that may merit additional therapy. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0235713PLOS

Systemic Amyloidosis Recognition, Prognosis, and Therapy: A Systematic Review.

JAMA 2020 Jul;324(1):79-89

Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, Minnesota.

Importance: Many patients with systemic amyloidosis are underdiagnosed. Overall, 25% of patients with immunoglobulin light chain (AL) amyloidosis die within 6 months of diagnosis and 25% of patients with amyloid transthyretin (ATTR) amyloidosis die within 24 months of diagnosis. Effective therapy exists but is ineffective if end-organ damage is severe. Read More

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http://dx.doi.org/10.1001/jama.2020.5493DOI Listing

The diagnostic challenges of cardiac amyloidosis: A practical approach to the two main types.

Blood Rev 2020 Jun 23:100720. Epub 2020 Jun 23.

Department of Medicine, The John C Davis Myeloma and Amyloid Program, Tufts Medical Center, Boston, MA, USA.

Systemic amyloidosis of the immunoglobulin light-chain (AL) or transthyretin type (ATTR) is a multisystem protein deposition disease that often involves the heart. Delays in diagnosis are very common and can have detrimental consequences on patient outcomes. Because both major types can now be distinguished quickly and treated effectively, clear approaches are required. Read More

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http://dx.doi.org/10.1016/j.blre.2020.100720DOI Listing

Localized Lymph Node Light Chain Amyloidosis.

Intern Med 2020 Jun 30. Epub 2020 Jun 30.

Department of General Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Japan.

The prognosis of systemic amyloid light chain (AL) amyloidosis is generally poor, hence requiring chemotherapy or hematopoietic stem cell transplantation, while the prognosis of localized AL amyloidosis without an abnormal monoclonal immunoglobulin light chain is good. Localized AL amyloidosis has been previously reported to be observed in pulmonary, urinary tract, gastrointestinal, oropharyngeal, and laryngeal sites. However, only a few cases of localized lymph node AL amyloidosis have so far been reported. Read More

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http://dx.doi.org/10.2169/internalmedicine.4651-20DOI Listing

Localized immunoglobulin light chain amyloidosis: novel insights including prognostic factors for local progression.

Am J Hematol 2020 Jun 29. Epub 2020 Jun 29.

Medical Department V, Hematology, Oncology and Rheumatology, University Hospital Heidelberg, INF 410, Heidelberg, Germany.

In localized light chain amyloidosis (locAL), amyloidogenic light chains (aLC) are produced and deposited locally by a B-cell clone. We present 293 patients with immunohistochemically confirmed locAL. Lung (nodular pulmonary) with 63 patients was the most involved organ. Read More

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http://dx.doi.org/10.1002/ajh.25915DOI Listing

Acral localized acquired cutis laxa as presenting sign of underlying systemic amyloidosis.

J Cutan Pathol 2020 Jun 28. Epub 2020 Jun 28.

Department of Dermatology, Mayo Clinic, Rochester, Minnesota.

Acral localized acquired cutis laxa (ALACL) is a rare variant of acquired cutis laxa, and the clinical appearance is characterized by loose, redundant and wrinkled skin of the distal extremities. By definition, histology of affected tissue reveals sparse or fragmented elastic fibers. However, this can be difficult to assess on routine staining, and sometimes requires electron microscopy. Read More

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http://dx.doi.org/10.1111/cup.13791DOI Listing

Prior Carpal Tunnel Syndrome and Early Concomitant Echocardiographic Findings Among Patients with Cardiac Amyloidosis.

J Card Fail 2020 Jun 24. Epub 2020 Jun 24.

Department of Cardiology, Rabin Medical Center, Petah Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

We aimed to characterize patients with systemic amyloidosis stratified by a prior diagnosis of carpal tunnel syndrome (CTS) and to describe early echocardiographic parameters concomitant with CTS. Patients with suspected amyloidosis during CTS diagnosis were excluded. Our cohort included 108 patients with systemic amyloidosis of which 36% had a prior CTS at a median of 4 (IQR 2. Read More

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http://dx.doi.org/10.1016/j.cardfail.2020.06.009DOI Listing

Secondary bladder amyloidosis due to Crohn's disease: a case report and literature review.

CEN Case Rep 2020 Jun 22. Epub 2020 Jun 22.

Department of Urology, S. Orsola-Malpighi University Hospital, Via P. Palagi 9, 40138, Bologna, Italy.

The presence of amyloid deposits in bladder walls is a rare histological finding. It can be linked to primary (limited to bladder) or secondary (systemic, associated with chronic inflammatory disorders) amyloidosis. Secondary bladder involvement is very uncommon; it usually presents with gross hematuria, which is challenging to manage, due to frail bladder mucosa and/or necrosis. Read More

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http://dx.doi.org/10.1007/s13730-020-00497-3DOI Listing

Cardiac amyloidosis in patient undergoing TAVR, why we need to think about it.

Cardiovasc Revasc Med 2020 Jun 10. Epub 2020 Jun 10.

Division of Interventional Structural Cardiology, Cardiothoracovascular Department, Careggi University Hospital, Florence, Italy.

Systemic amyloidosis encompasses a variety of diseases characterized by extracellular deposition of protein-derived fibrils in different tissues and organs. Immunoglobulin light-chain (AL) and transthyretin (ATTR) amyloid are the two types that more commonly affect the heart and in both subtypes cardiac involvement is the main determinant of prognosis. Recently, several studies have suggested that Cardiac Amyloidosis (CA) and Aortic Stenosis (AS) can coexist more frequently than previously suspected with prevalence ranging from 5,6% to 16% in different cohorts. Read More

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http://dx.doi.org/10.1016/j.carrev.2020.06.005DOI Listing

Diagnosis and management of systemic light chain AL amyloidosis.

Pharmacol Ther 2020 Jun 17:107612. Epub 2020 Jun 17.

Department of Internal Medicine, Division of Hematology/Oncology, Columbia University Medical Center, New York, NY, United States of America.

AL amyloidosis is a plasma cell disorder leading to the production and extracellular deposition of abnormal immunoglobulin light chains called amyloid. The pathogenesis of the disorder is driven by an abnormal plasma cell clone producing excessive monoclonal immunoglobulin light chains that undergo deposition in various organs of the body such as the heart, kidney, and gastrointestinal tract. The outcome of the disease remains poor with significant morbidity and mortality associated with organ dysfunction. Read More

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http://dx.doi.org/10.1016/j.pharmthera.2020.107612DOI Listing

CD38 and Anti-CD38 Monoclonal Antibodies in AL Amyloidosis: Targeting Plasma Cells and beyond.

Int J Mol Sci 2020 Jun 10;21(11). Epub 2020 Jun 10.

Nephrology and Dialysis Unit & CMID (Center of Research of Immunopathology and Rare Diseases), Coordinating Center of the Network for Rare Diseases of Piedmont and Aosta Valley, San Giovanni Bosco Hub Hospital of Turin, and Department of Clinical and Biological Sciences, University of Turin, 10154 Turin, Italy.

Immunoglobulin light chain amyloidosis (AL amyloidosis) is a rare systemic disease characterized by monoclonal light chains (LCs) depositing in tissue as insoluble fibrils, causing irreversible tissue damage. The mechanisms involved in aggregation and deposition of LCs are not fully understood, but CD138/38 plasma cells (PCs) are undoubtedly involved in monoclonal LC production.CD38 is a pleiotropic molecule detectable on the surface of PCs and maintained during the neoplastic transformation in multiple myeloma (MM). Read More

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http://dx.doi.org/10.3390/ijms21114129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7312896PMC

Improved Quantification of Cardiac Amyloid Burden in Systemic Light Chain Amyloidosis: Redefining Early Disease?

JACC Cardiovasc Imaging 2020 Jun 13;13(6):1325-1336. Epub 2020 May 13.

Department of Medicine, Division of Cardiology, Cardiac Amyloidosis Program, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts; Department of Radiology, Division of Nuclear Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts; Department of Medicine and Radiology, CV Imaging Program, Cardiovascular Division, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts. Electronic address:

Objectives: The purpose of this study was to determine phenotypes characterizing cardiac involvement in AL amyloidosis by using direct (fluorine-18-labeled florbetapir {[F]florbetapir} positron emission tomography [PET]/computed tomography) and indirect (echocardiography and cardiac magnetic resonance [CMR]) imaging biomarkers of AL amyloidosis.

Background: Cardiac involvement in systemic light chain amyloidosis (AL) is the main determinant of prognosis and, therefore, guides management. The hypothesis of this study was that myocardial AL deposits and expansion of extracellular volume (ECV) could be identified before increases in N-terminal pro-B-type natriuretic peptide or wall thickness. Read More

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http://dx.doi.org/10.1016/j.jcmg.2020.02.025DOI Listing

Primary Amyloidosis of the Genitourinary Tract.

Arch Pathol Lab Med 2020 May 8. Epub 2020 May 8.

From the Department of Pathology & Laboratory Medicine, Indiana University School of Medicine, Indianapolis.

Context.—: Amyloidosis is caused by the deposition of misfolded proteins as insoluble eosinophilic material in the extracellular tissues of the body, leading to impairment of organ function. It can be systemic or localized. Read More

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http://dx.doi.org/10.5858/arpa.2020-0102-RADOI Listing

A Case of Primary Systemic Amyloidosis Involving the Sinonasal Tract.

Ear Nose Throat J 2020 May 4:145561320922719. Epub 2020 May 4.

Department of Otolaryngology-Head and Neck Surgery, Kyoto Prefectural University of Medicine, Kyoto, Japan.

We present a case of primary systemic amyloidosis diagnosed by endoscopic sinus surgery. A 75-year-old woman had blurred vision in her left eye; computed tomography and magnetic resonance imaging showed shadows of the bilateral paranasal sinuses. Endoscopic sinus surgery was performed, and amyloidosis was diagnosed by histopathology. Read More

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http://dx.doi.org/10.1177/0145561320922719DOI Listing

Primary Localized Conjunctival Amyloidosis Presenting Corneal Whorl-like Opacity Patterns.

Cornea 2020 Jul;39(7):898-901

Department of Ophthalmology, Army Hospital Research and Referral, New Delhi, India.

Purpose: To report an unusual case of corneal whorl-like opacity patterns in a patient of primary localized conjunctival amyloidosis.

Methods: Case report and review of literature.

Results: A 35-year old man with a case of primary localized conjunctival amyloidosis presented with corneal whorl-like opacity patterns and underwent conjunctival and limbal biopsies. Read More

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http://dx.doi.org/10.1097/ICO.0000000000002343DOI Listing
July 2020
2.360 Impact Factor

Site-Specific Interactions with Copper Promote Amyloid Fibril Formation for λ6aJL2-R24G.

ACS Omega 2020 Apr 23;5(13):7085-7095. Epub 2020 Mar 23.

Centro de Investigación en Dinámica Celular-IICBA, Universidad Autónoma del Estado de Morelos, Cuernavaca, Morelos 62209, Mexico.

Light-chain amyloidosis (AL) is one of the most common systemic amyloidoses, and it is characterized by the deposition of immunoglobulin light chain (LC) variable domains as insoluble amyloid fibers in vital organs and tissues. The recombinant protein 6aJL2-R24G contains λ6a and JL2 germline genes and also contains the Arg24 by Gly substitution. This mutation is present in 25% of all amyloid-associated λ6 LC cases, reduces protein stability, and increases the propensity to form amyloid fibers. Read More

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http://dx.doi.org/10.1021/acsomega.9b03220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7143407PMC

Immunoglobulin light chain amyloidosis: 2020 update on diagnosis, prognosis, and treatment.

Authors:
Morie A Gertz

Am J Hematol 2020 Jul 28;95(7):848-860. Epub 2020 Apr 28.

Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA.

Disease Overview: Immunoglobulin light chain amyloidosis is a clonal, nonproliferative plasma cell disorder in which fragments of immunoglobulin light or heavy chain are deposited in tissues. Clinical features depend on organs involved but can include heart failure with preserved ejection fraction, nephrotic syndrome, hepatic dysfunction, peripheral/autonomic neuropathy, and "atypical smoldering multiple myeloma or monoclonal gammopathy undetermined significance (MGUS)."

Diagnosis: Tissue biopsy stained with Congo red demonstrating amyloid deposits with apple-green birefringence is required for diagnosis. Read More

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http://dx.doi.org/10.1002/ajh.25819DOI Listing

Supportive Care in AL Amyloidosis.

Acta Haematol 2020 Apr 1:1-8. Epub 2020 Apr 1.

Hematology Department, Amyloidosis and Myeloma Unit, Hospital Clínic of Barcelona, University of Barcelona, IDIBAPS, Barcelona, Spain.

Immunoglobulin light-chain (AL) amyloidosis is a systemic disease characterized by the production and deposition of light chain-derived amyloid fibrils in different organs. Prompt treatment directed to the underlying plasma cell clone is crucial in order to achieve a rapid, deep and durable hematologic response. The decrease in the production of the amyloidogenic light chains is a required condition to obtain the organ response, which is commonly delayed. Read More

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http://dx.doi.org/10.1159/000506760DOI Listing

Bioelectrical impedance vector analysis-derived phase angle predicts survival in patients with systemic immunoglobulin light-chain amyloidosis.

Amyloid 2020 Mar 26:1-6. Epub 2020 Mar 26.

Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo and, University Department of Molecular Medicine, University of Pavia, Pavia, Italy.

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. One hundred-twenty seven consecutive newly diagnosed, treatment-naïve patients with histologically confirmed AL amyloidosis were enrolled. Read More

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http://dx.doi.org/10.1080/13506129.2020.1737004DOI Listing

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.

Clin Chem 2020 Apr;66(4):525-536

Department of Medical Genetics, Rare Diseases and Personalized Medicine, Reference Center CEREMAIA, CHU Montpellier, University of Montpellier, Montpellier, France.

Background: Monogenic autoinflammatory diseases are caused by pathogenic variants in genes that regulate innate immune responses, and are characterized by sterile systemic inflammatory episodes. Since symptoms can overlap within this rapidly expanding disease category, accurate genetic diagnosis is of the utmost importance to initiate early inflammation-targeted treatment and prevent clinically significant or life-threatening complications. Initial recommendations for the genetic diagnosis of autoinflammatory diseases were limited to a gene-by-gene diagnosis strategy based on the Sanger method, and restricted to the 4 prototypic recurrent fevers (MEFV, MVK, TNFRSF1A, and NLRP3 genes). Read More

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http://dx.doi.org/10.1093/clinchem/hvaa024DOI Listing

Unraveling the complexity of amyloid polymorphism using gold nanoparticles and cryo-EM.

Proc Natl Acad Sci U S A 2020 03 11;117(12):6866-6874. Epub 2020 Mar 11.

Laboratory of Molecular and Chemical Biology of Neurodegeneration, Brain Mind Institute, Ecole Polytechnique Fédérale de Lausanne, 1015 Lausanne, Switzerland;

Increasing evidence suggests that amyloid polymorphism gives rise to different strains of amyloids with distinct toxicities and pathology-spreading properties. Validating this hypothesis is challenging due to a lack of tools and methods that allow for the direct characterization of amyloid polymorphism in hydrated and complex biological samples. Here, we report on the development of 11-mercapto-1-undecanesulfonate-coated gold nanoparticles (NPs) that efficiently label the edges of synthetic, recombinant, and native amyloid fibrils derived from different amyloidogenic proteins. Read More

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http://dx.doi.org/10.1073/pnas.1916176117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7104366PMC

Vitreous amyloidosis as primary manifestation of disease: case report.

Arch Soc Esp Oftalmol 2020 May 4;95(5):244-247. Epub 2020 Mar 4.

Departamento de Patología, Instituto Mexicano de Oftalmología I.A.P, Santiago de Querétaro, México.

A 35-year-old woman with progressive decrease of vision in both eyes and with no other associated symptoms, manifested as the only antecedent, the death of her brother due to amyloidosis. The visual acuity was counting fingers at 30 centimetres in the right eye and 20/70 in the left eye. In ophthalmoscopy of the right eye, a white, homogeneous vitreous, that was difficult to assess in detail, was observed, and in the left eye a whitish vitreous with band-like opacities in the cortical region. Read More

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http://dx.doi.org/10.1016/j.oftal.2019.12.019DOI Listing

Canadian Cardiovascular Society/Canadian Heart Failure Society Joint Position Statement on the Evaluation and Management of Patients With Cardiac Amyloidosis.

Can J Cardiol 2020 Mar;36(3):322-334

University of Manitoba, Winnipeg, Manitoba, Canada.

Cardiac amyloidosis is an under-recognized and potentially fatal cause of heart failure and other cardiovascular manifestations. It is caused by deposition of misfolded precursor proteins as fibrillary amyloid deposits in cardiac tissues. The two primary subtypes of systemic amyloidosis causing cardiac involvement are immunoglobulin light chain (AL), a plasma cell dyscrasia, and transthyretin (ATTR), itself subdivided into a hereditary subtype caused by a gene mutation of the ATTR protein, and an age-related wild type, which occurs in the absence of a gene mutation. Read More

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http://dx.doi.org/10.1016/j.cjca.2019.12.034DOI Listing
March 2020
3.711 Impact Factor

Multiple myeloma with primary amyloidosis presenting with digestive symptoms: A case report and literature review.

Arab J Gastroenterol 2020 Mar 20;21(1):54-58. Epub 2020 Feb 20.

Department of Gastroenterology, Beijing Friendship Hospital, Capital Medical University, National Clinical Research Center for Digestive Diseases, Beijing Digestive Disease Center, Beijing Key Laboratory for Precancerous Lesion of Digestive Diseases, Yong'an Road, No. 95, Beijing 100050, China. Electronic address:

We present a case of multiple myeloma with primary systemic amyloidosis presenting with digestive symptoms in a 32-year-old male. Initial symptoms included upper abdominal discomfort for 4 months, and stool with mucous and blood for 1 month. Erosive gastritis, Helicobacter pylori infection, haematochezia, and weight loss were noted, but without bone pain, anaemia, or hypercalcaemia. Read More

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http://dx.doi.org/10.1016/j.ajg.2020.01.002DOI Listing

Bendamustine With Dexamethasone in Relapsed/Refractory Systemic Light-Chain Amyloidosis: Results of a Phase II Study.

J Clin Oncol 2020 May 21;38(13):1455-1462. Epub 2020 Feb 21.

Division of Hematologic Oncology, Memorial Sloan Kettering Cancer Center, New York, NY.

Purpose: No established treatments exist for relapsed/refractory systemic light-chain (AL) amyloidosis. Bendamustine has shown potential in the treatment of multiple myeloma. We conducted a phase II, multicenter trial to assess the efficacy and safety of bendamustine with dexamethasone (ben-dex) in patients with persistent or progressive AL amyloidosis after ≥ 1 prior therapy. Read More

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http://dx.doi.org/10.1200/JCO.19.01721DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7193746PMC

Primary localized amyloidosis of the uterine cervix during pregnancy.

J Obstet Gynaecol Res 2020 May 19;46(5):787-790. Epub 2020 Feb 19.

Department of Neurology, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.

Amyloidosis of the uterine cervix is rare. A 35-year-old pregnant woman underwent a cervical biopsy and was found to have amyloid deposits. The results of liquid chromatography-tandem mass spectrometry revealed that these deposits mainly consisted of immunoglobulin light chain (kappa chain). Read More

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http://dx.doi.org/10.1111/jog.14218DOI Listing

Efficacy of Chemotherapies and Stem Cell Transplantation for Systemic AL Amyloidosis: A Network Meta-Analysis.

Front Pharmacol 2019 28;10:1601. Epub 2020 Jan 28.

Department of Nephrology, the Second Affiliated Hospital of Nanchang University, Jiangxi, China.

Background/aims: The present Bayesian network meta-analysis (NMA) was to compare the efficacy of different chemotherapies and autologous stem cell transplantation (ASCT) in immunoglobulin light-chain (AL) amyloidosis.

Methods: We systematically searched PubMed, Embase, Web of Science, and the Cochrane Central Register of Controlled Trials (CENTRAL) for studies compared the rates of hematological response (HR), complete response (CR), renal response, and cardiac response in AL amyloidosis patients.

Results: There were three randomized controlled trials (RCTs) and thirteen observational controlled trials (OCTs) comprising 3,402 participants enrolled for the comparisons of seven treatments: melphalan + dexamethasone (MDex), high-dose melphalan followed by ASCT, bortezomib + melphalan + dexamethasone (BMDex), thalidomide + cyclophosphamide + dexamethasone (CTD), bortezomib + dexamethasone (BDex), bortezomib + cyclophosphamide + dexamethasone (CyBorD), cyclophosphamide + lenalidomide + dexamethasone (CLD). Read More

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http://dx.doi.org/10.3389/fphar.2019.01601DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6997776PMC
January 2020

Diagnostic imaging of cardiac amyloidosis.

Nat Rev Cardiol 2020 Jul 10;17(7):413-426. Epub 2020 Feb 10.

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

Systemic amyloidosis encompasses a debilitating, under-diagnosed but increasingly recognized group of disorders characterized by the extracellular deposition of misfolded proteins in one or more organs. Cardiac amyloid deposition leads to an infiltrative or restrictive cardiomyopathy and is the major contributor to poor prognosis in patients with systemic amyloidosis. In total, >30 proteins can form amyloid fibrils, but the two main types of amyloid that can infiltrate the heart are monoclonal immunoglobulin light-chain amyloid and transthyretin amyloid. Read More

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http://dx.doi.org/10.1038/s41569-020-0334-7DOI Listing

Adult-onset systemic autoinflammatory disorders: a clinical approach.

Reumatismo 2020 Jan 28;71(4):177-188. Epub 2020 Jan 28.

Department of Internal Medicine, Trofa Saúde Hospital Privado de Gaia, Vila Nova de Gaia.

Autoinflammatory disorders (AIDs) are a subgroup of immune-mediated syndromes that result from a primary dysfunction of the innate immune system. AIDs can be either monogenic or polygenic diseases. Unlike organspecific AIDs, systemic AIDs are characterized by fever and/or elevation of acute-phase reactants. Read More

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http://dx.doi.org/10.4081/reumatismo.2019.1192DOI Listing
January 2020

A Case-Based Review of Systemic Amyloidosis and its Cutaneous Findings.

S D Med 2019 Nov;72(11):504-507

Avera Medical Group Dermatology, Mitchell, South Dakota.

Systemic amyloidosis is a disorder in which misfolded proteins deposit extracellularly, causing diverse clinical presentations depending on which organ systems are involved and to what degree they are involved. Delay in diagnosis is common and leads to increased mortality. In this article we report a case of systemic amyloidosis with the aim of increasing awareness of this entity. Read More

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November 2019

99mTc-DPD scintigraphy and SPECT/CT in patients with AL and ATTR type amyloidosis: Potential clinical implications.

Medicine (Baltimore) 2020 Jan;99(4):e18905

Departments of Nuclear Medicine.

Although pathological confirmation is the gold standard for diagnosis of amyloidosis, there is a need for a relevant imaging modality to identify involved organs and evaluate disease extent. Thus, we prospectively investigated imaging findings of Tc-DPD scintigraphy in AL and ATTR amyloidosis.A total of 21 subjects with pathologically confirmed AL or ATTR amyloidosis were included. Read More

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http://dx.doi.org/10.1097/MD.0000000000018905DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7004596PMC
January 2020

A Case of Primary Localized Small Bowel Amyloidosis Studied by 18F-Choline and Contrast-Enhanced 18F-FDG PET/CT.

Clin Nucl Med 2020 Mar;45(3):e154-e155

Istituto di Radiologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC di Radiologia, Dipartimento di Scienze Radiologiche, Radioterapiche ed Ematologiche Roma, Italia.

Amyloidosis is a rare hereditary or acquired protein deposition disorder with different etiologies, characterized by pathological protein deposition essentially in nearly any organs or tissues. There are 2 major forms: primary and secondary amyloidosis. Moreover, it is possible to have systemic or localized disease. Read More

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http://dx.doi.org/10.1097/RLU.0000000000002889DOI Listing

[Orbital Amyloidosis - Comparison of Two Different Clinical Courses].

Klin Monbl Augenheilkd 2020 Jan 22;237(1):35-40. Epub 2020 Jan 22.

Universitätsklinik und Poliklinik für Augenheilkunde, Universitätsklinikum Halle (Saale), Martin-Luther-Universität Halle-Wittenberg, Halle (Saale).

Background: Primary localised orbital amyloidosis (PLOA) is a very rare disease. In contrast to the isolated manifestation, systemic involvement can be associated with potentially life-threatening consequences. However, the isolated involvement of the orbit can also lead to serious complications. Read More

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http://dx.doi.org/10.1055/a-1078-1274DOI Listing
January 2020

AMYLOID GOITER AS THE FIRST RECOGNIZABLE MANIFESTATION OF IMMUNOGLOBULIN LIGHT CHAIN AMYLOIDOSIS.

AACE Clin Case Rep 2019 Sep-Oct;5(5):e326-e329. Epub 2019 Jun 26.

Objective: Clinically apparent thyroid enlargement due to massive amounts of amyloid deposition, known as amyloid goiter, is rare. Endocrinologists should become familiar with this manifestation of systemic amyloidosis, which may be diagnosed by Congo red staining of the specimen obtained by fine-needle aspiration.

Methods: We describe a 70-year-old man who presented with a slowly enlarging goiter. Read More

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http://dx.doi.org/10.4158/ACCR-2019-0161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6876951PMC

Human amyloidosis, still intractable but becoming curable: The essential role of pathological diagnosis in the selection of type-specific therapeutics.

Pathol Int 2020 Apr 21;70(4):191-198. Epub 2020 Jan 21.

Department of Amyloidosis Research, Nagasaki International University, Nagasaki, Japan.

The molecular pathogenesis of human amyloidosis has been elucidated greatly during the last 20 years. Based on the understanding of the molecular mechanisms of amyloid fibril formation and deposition, various kinds of new drugs and therapeutics have been emerging to improve the prognosis of amyloidosis and even cure this disease. In this review article, we first summarize the pathogenesis and state-of-the-art therapeutics of representative types of systemic human amyloidosis, that is, immunoglobulin light chain-related, transthyretin-related, amyloid A-associated and β -microglobulin-related amyloidosis. Read More

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http://dx.doi.org/10.1111/pin.12902DOI Listing

Presence of soluble and cell-surface B-cell maturation antigen in systemic light-chain amyloidosis and its modulation by gamma-secretase inhibition.

Am J Hematol 2020 05 29;95(5):E110-E113. Epub 2020 Jan 29.

Division of Hematology-Oncology, Department of Medicine, Tufts Medical Center, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajh.25734DOI Listing

Renal amyloidosis complicated by light chain deposition nephropathy: a case report.

Int J Clin Exp Pathol 2019 1;12(6):2279-2283. Epub 2019 Jun 1.

Department of Nephrology, The First Affiliated Hospital of Xi'an Jiaotong University Xi'an, Shaanxi, China.

Light chain amyloidosis (AL) and light chain deposition disease (LCDD) are systemic diseases caused by an abnormal production of monoclonal immunoglobulin light chains and their deposition in systemic tissue. We herein present a rare case of renal amyloidosis complicated with light chain deposition nephropathy. The patient presented with nephrotic syndrome and an increased serum creatinine. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6949640PMC

An autopsy case of amyloid tubulopathy exhibiting characteristic spheroid-type deposition.

Virchows Arch 2020 Jul 13;477(1):157-163. Epub 2020 Jan 13.

Department of Legal Medicine, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, 2630 Sugitani, Toyama, 930-0194, Japan.

An 84-year-old woman with a history of haemodialysis for renal failure from approximately 1 year before death. Autopsy revealed numerous spheroid-type amyloid deposits in the kidney that were observed mainly in the interstitium but not the glomeruli and vessels. In addition, intracytoplasmic small globular amyloid deposits in the proximal tubules in addition to amyloid casts were identified. Read More

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http://dx.doi.org/10.1007/s00428-019-02740-4DOI Listing

Simultaneous tubular and glomerular involvement with cryoglobulinemia vasculitis in multiple myeloma.

Saudi J Kidney Dis Transpl 2019 Nov-Dec;30(6):1470-1474

Department of Nephrology and Renal Transplantation, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

Renal manifestations in myeloma are varied. Tubulopathic light chains cause cast nephropathy or proximal tubulopathy, usually associated with tubulointerstitial nephritis. Glomerular involvement includes amyloidosis and monoclonal immunoglobulin deposition diseases. Read More

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http://dx.doi.org/10.4103/1319-2442.275496DOI Listing
January 2020

Recurrent pericardial effusion with pericardial amyloid deposition: a case report and literature review.

Cardiovasc Pathol 2020 May - Jun;46:107191. Epub 2019 Dec 6.

Department of Surgical Pathology, Tokyo Women's Medical University, Tokyo, Japan.

Pericardial amyloidosis is a rare cause of pericardial effusion. Here, we report a case of recurrent pericardial effusion because of pericardial amyloid deposition. The patient was a man in his 40s admitted for pulmonary embolism. Read More

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http://dx.doi.org/10.1016/j.carpath.2019.107191DOI Listing

Coagulation and fibrinolytic features in AL amyloidosis with abnormal bleeding and usefulness of tranexamic acid.

Int J Hematol 2020 Apr 3;111(4):550-558. Epub 2020 Jan 3.

Department of Hematology, Kanazawa University Hospital, 13-1 Takaramachi Kanazawa, Ishikawa, 920-8641, Japan.

Abnormal bleeding is sometimes observed in patients with immunoglobulin light chain (AL) amyloidosis. Although several theories have been proposed regarding the pathological causes of the bleeding tendency in AL amyloidosis, many lacked sufficient evidence and full consensus. We conducted a retrospective survey at a single institution to assess bleeding manifestations, methods for evaluating hematological abnormalities, and treatments for bleeding in patients with systemic AL amyloidosis over the past 13 years. Read More

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http://dx.doi.org/10.1007/s12185-019-02811-xDOI Listing

Epidemiological and clinical characteristics and outcome of monoclonal gammopathy of renal significance-related lesions in Latin America.

Nephrology (Carlton) 2020 Jun 19;25(6):442-449. Epub 2019 Dec 19.

Department of Pathology, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago de, Chile.

Background: Monoclonal gammopathy of renal significance (MGRS)-related lesions are infrequent entities. There are no publications on these disorders in Latin America (LA). The aim of this study was to describe epidemiological and clinical characteristics of these patients in LA. Read More

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http://dx.doi.org/10.1111/nep.13685DOI Listing
June 2020
1.864 Impact Factor

Periorbital xanthoma-like amyloidosis in a patient with multiple myeloma-associated systemic amyloidosis.

Eur J Dermatol 2019 Oct;29(5):566-567

Department of Dermatology, Fukushima Medical University, Fukushima 960-1295, Japan.

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http://dx.doi.org/10.1684/ejd.2017.3116DOI Listing
October 2019

A Rare Presentation of Nodular Amyloidosis on the Lower Back.

Cureus 2019 Oct 8;11(10):e5864. Epub 2019 Oct 8.

Dermatology, St. Joseph Dermatopathology, Houston, USA.

Primary localized cutaneous amyloidosis (PLCA) occurs when amyloid is deposited only within the skin and there is no evidence of systemic involvement. Nodular amyloidosis is the rarest subtype of PLCA. It typically involves the acral regions but can sometimes present on the head and neck. Read More

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http://dx.doi.org/10.7759/cureus.5864DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6834092PMC
October 2019

Reproducibility and Repeatability of Assessment of Myocardial Light Chain Amyloidosis Burden Using F-Florbetapir PET/CT.

J Nucl Cardiol 2019 Nov 22. Epub 2019 Nov 22.

Division of Nuclear Medicine and Molecular Imaging, Department of Radiology, Brigham and Women's Hospital and Harvard Medical School, 75 Francis St, Boston, MA, 02115, USA.

Background: F-florbetapir PET is emerging as an excellent quantitative tool to quantify cardiac light chain (AL) amyloidosis burden. The primary aim of this study was to determine interobserver reproducibility and intraobserver repeatability, defined per the recommendations of the Quantitative Imaging Biomarker Alliance technical performance group, of PET F-florbetapir retention index (RI) in patients with cardiac AL amyloidosis.

Methods: The study cohort comprised 37 subjects with systemic AL amyloidosis enrolled in the prospective study: Molecular Imaging of Primary Amyloid Cardiomyopathy (clinical trials. Read More

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http://dx.doi.org/10.1007/s12350-019-01961-zDOI Listing
November 2019

Intraocular amyloidosis with multifocal iris and anterior chamber translucent spherules.

Indian J Ophthalmol 2019 12;67(12):2078-2080

Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, 840 Walnut Street, Philadelphia, PA, USA.

Ocular amylodosis, although a rare entity, is known to affect the conjunctiva, extraocular muscles, orbit, lacrimal gland, and skin around the eyes. Intraocular deposition of amyloid mainly confines to the vitreous and cornea. In this report, we describe two cases of intraocular amyloidosis presenting as multiple iris and anterior chamber cysts. Read More

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http://dx.doi.org/10.4103/ijo.IJO_812_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896560PMC
December 2019

Classic features of primary systemic amyloidosis (AL amyloidosis) leading to diagnosis of plasma cell myeloma.

Dermatol Online J 2019 Sep 15;25(9). Epub 2019 Sep 15.

Texas Tech University Health Sciences Center School of Medicine, Lubbock, TX.

The diagnosis of primary systemic amyloidosis, also known as AL (amyloid light-chain) amyloidosis, is often delayed owing to its nonspecific manifestations as well as its rarity. A 64-year-old woman presented with an eight-month history of significant weight loss, anemia, fatigue, and progressive painful cutaneous lesions on her hands, lips, back, perianal, and vulvar area that were originally treated unsuccessfully with antimalarials and systemic corticosteroids. Histopathological examination revealed an amorphous dermis with pale pink material that demonstrated positive birefringence with Congo red staining. Read More

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September 2019

Systemic AL amyloidosis with an undetectable plasma cell dyscrasia: A zebra without stripes.

Am J Hematol 2020 02 26;95(2):E45-E48. Epub 2019 Nov 26.

Amyloidosis Center, Boston University School of Medicine, Boston Medical Center, Boston, Massachusetts.

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http://dx.doi.org/10.1002/ajh.25685DOI Listing
February 2020