2,013 results match your criteria Amyloidosis Primary Systemic

[To positively deal with the challenges brought by the diagnosis and treatment of systemic light chain amyloidosis].

X H Huang Z H Liu

Zhonghua Yi Xue Za Zhi 2021 Jun;101(22):1631-1634

National Clinical Research Center of Kidney Diseases, Jinling Hospital, Nanjing 210016, China.

To meet the challenges in the diagnosis and treatment of systemic light chain (AL) amyloidosis, the China Systemic Light Chain Amyloidosis Collaborative Group, together with multidisciplinary experts, developed the "Guideline for the Diagnosis and Treatment of Systemic Light Chain Amyloidosis" in 2016. In order to introduce progress in this field and better guide the clinical practice, the guideline has been updated recently. The in-depth understanding of AL amyloidosis has not only improved the level of diagnosis and treatment of the disease, but also promoted the integration of multiple disciplines, accelerated the development of clinical trials and the improvement of disease diagnosis and treatment modes. Read More

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Machine learning analyses of antibody somatic mutations predict immunoglobulin light chain toxicity.

Nat Commun 2021 06 10;12(1):3532. Epub 2021 Jun 10.

Institute for Research in Biomedicine, Università della Svizzera italiana, Bellinzona, Switzerland.

In systemic light chain amyloidosis (AL), pathogenic monoclonal immunoglobulin light chains (LC) form toxic aggregates and amyloid fibrils in target organs. Prompt diagnosis is crucial to avoid permanent organ damage, but delayed diagnosis is common because symptoms usually appear only after strong organ involvement. Here we present LICTOR, a machine learning approach predicting LC toxicity in AL, based on the distribution of somatic mutations acquired during clonal selection. Read More

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Hepatocyte Growth Factor and Primary Systemic Amyloidosis.

J UOEH 2021 ;43(2):227-233

Third Department of Internal Medicine, University of Occupational and Environmental Health, Japan.

A 75-year-old-man experienced liver dysfunction and was diagnosed with decompensated liver cirrhosis. His serum hepatocyte growth factor (HGF) was very high (16.24 ng/ml). Read More

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January 2021

Progress and challenges in the treatment of cardiac amyloidosis: a review of the literature.

ESC Heart Fail 2021 Jun 5. Epub 2021 Jun 5.

Department of Cardiology, Emergency Institute for Cardiovascular Diseases 'Prof. Dr. C. C. Iliescu', 3rd Cardiology Department, 258 Fundeni Street, Bucharest, 022328, Romania.

Cardiac amyloidosis is a restrictive cardiomyopathy determined by the accumulation of amyloid, which is represented by misfolded protein fragments in the cardiac extracellular space. The main classification of systemic amyloidosis is determined by the amyloid precursor proteins causing a very heterogeneous disease spectrum, but the main types of amyloidosis involving the heart are light chain (AL) and transthyretin amyloidosis (ATTR). AL, in which the amyloid precursor is represented by misfolded immunoglobulin light chains, can involve almost any system carrying the worst prognosis among amyloidosis patients. Read More

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Primary localized amyloidosis causing urethral stricture disease: a mimicker of urothelial carcinoma.

Jas Singh

J Surg Case Rep 2021 May 27;2021(5):rjab201. Epub 2021 May 27.

Department of Surgery, Section of Urology, University of Manitoba, Winnipeg, Manitoba R3P 1Y4, Canada.

We describe a case of mild lower urinary tract symptoms and microscopic hematuria in a 53-year-old-male with hypertension found to have urethral stricture disease suspicious for urothelial carcinoma. During the investigation, cystoscopy and biopsy demonstrated eosinophilic amyloid proteins consistent with primary localized urethral amyloidosis. No systemic evidence of amyloidosis was demonstrated. Read More

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A case of primary retroperitoneal amyloidoma resected laparoscopically.

Urol Case Rep 2021 Sep 13;38:101711. Epub 2021 May 13.

Department of Urology, Osaka City University Graduate School of Medicine, 1-4-3 Asahi-machi, Abeno-ku, Osaka 545-8585, Japan.

Amyloidosis is known as a group of diseases that causes various disorders because of deposition of amyloid protein in various organs. Amyloidosis occurring in the retroperitoneum is a rare disease. We report a 75-year-old male patient presented to our hospital because he was identified with a retroperitoneal mass incidentally by CT. Read More

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September 2021

Transthyretin amyloid fibrils alter primary fibroblast structure, function and inflammatory gene expression.

Am J Physiol Heart Circ Physiol 2021 05 21. Epub 2021 May 21.

Department of Physiology and Biophysics, University of Illinois at Chicago, United States.

Age-related wild type transthyretin amyloidosis (wtATTR) is characterized by systemic deposition of amyloidogenic fibrils of misfolded transthyretin (TTR) in the connective tissue of many organs. In the heart this leads to cardiac dysfunction, which is a significant cause of age-related heart failure. The hypothesis tested is that TTR affects cardiac fibroblasts in ways that may contribute to fibrosis. Read More

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Systemic Immunoglobulin Light Chain Amyloidosis Involving the Large Intestine.

ACG Case Rep J 2021 May 14;8(5):e00578. Epub 2021 May 14.

Department of Medicine, Section of Gastroenterology and Hepatology, Louisiana State University Health, Shreveport, LA.

Amyloidosis is characterized by extracellular tissue deposition of fibrils resulting in disruption of tissue structure and function. Gastrointestinal amyloidosis commonly results from chronic inflammatory disorders (amyloid A amyloidosis) and is less commonly seen in immunoglobulin light chain amyloidosis. We present a rare case of a 50-year-old man with a history of immunoglobulin light chain amyloidosis who presented with abdominal pain, blood in stool, diarrhea, and weight loss. Read More

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Nuclear Imaging for Cardiac Amyloidosis: Bone Scan, SPECT/CT, and Amyloid-Targeting PET.

Nucl Med Mol Imaging 2021 Apr 7;55(2):61-70. Epub 2021 Jan 7.

Department of Nuclear Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, 06351 Seoul, Republic of Korea.

Cardiac amyloidosis (CA) is a type of systemic amyloidosis, in which abnormal amyloid fibril is deposited in extracellular space of myocardium. Most common subtypes of CA are amyloidosis of immunoglobulin light chain (AL) and amyloidosis of transthyretin (ATTR). With increase in incidence of CA and development of new drugs, the needs of early and accurate diagnosis of CA are increasing. Read More

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White matter abnormalities are key components of cerebrovascular disease impacting cognitive decline.

Brain Commun 2021 12;3(2):fcab076. Epub 2021 Apr 12.

Department of Radiology, Mayo Clinic, Rochester, MN 55905, USA.

While cerebrovascular disease can be observed using MRI, the multiplicity and heterogeneity in the mechanisms of cerebrovascular damage impede accounting for these measures in ageing and dementia studies. Our primary goal was to investigate the key sources of variability across MRI markers of cerebrovascular disease and evaluate their impact in comparison to amyloidosis on cognitive decline in a population-based sample. Our secondary goal was to evaluate the prognostic utility of a cerebrovascular summary measure from all markers. Read More

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Usefulness of dermoscopy in identifying amyloid purpura.

J Dermatol 2021 Jun 20;48(6):e260-e262. Epub 2021 Apr 20.

Department of Dermatology, Kosin University College of Medicine, Busan, South Korea.

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Systemic light-chain amyloidosis incidentally diagnosed after subtotal parathyroidectomy and thyroid lobectomy.

BMJ Case Rep 2021 Apr 19;14(4). Epub 2021 Apr 19.

Division of Endocrinology, Diabetes, and Metabolism, VA Greater Los Angeles Healthcare System, Los Angeles, California, USA.

A 74-year-old woman with a history of primary hyperparathyroidism, thyroid nodules, atrial fibrillation and pacemaker placement for sick sinus syndrome presented with fatigue, constipation and persistent lower extremity oedema. She underwent subtotal parathyroidectomy and left thyroid lobectomy. Histopathology revealed amyloidosis affecting the thyroidand parathyroids confirmed by Congo Red Staining with Mayo Clinic subtyping of light chain kappa-type amyloidosis. Read More

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Peripherally Inserted Central catheter iNnovation to reduce Infections and Clots (the PICNIC trial): a randomised controlled trial protocol.

BMJ Open 2021 04 14;11(4):e042475. Epub 2021 Apr 14.

Royal Brisbane and Woman's Hospital, Metro North Health Service District, Herston, Queensland, Australia.

Introduction: Peripherally inserted central catheters (PICCs) are vital for the delivery of medical therapies, but up to 30% of PICCs are associated with complications such as deep vein thrombosis or infection. The integration of antimicrobial and hydrophobic catheter materials, and pressure-activated valves, into polyurethane PICCs are innovations designed to prevent infective and/or thrombotic complications.

Methods And Analysis: A multicentre, parallel group, superiority randomised controlled trial with two experimental arms ((1) hydrophobic PICC (with pressure-activated valve); (2) chlorhexidine gluconate-impregnated PICC (with external clamp)) and one control group ((3) conventional polyurethane PICC (with external clamp)). Read More

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Optimising cardiovascular care of patients with multiple myeloma.

Heart 2021 Apr 5. Epub 2021 Apr 5.

Department of Cardio-Oncology, St Bartholomew's Hospital, London, UK

Multiple myeloma (MM) is the third most common haematological malignancy, with increasing prevalence over recent years. Advances in therapy have improved survival, changing the clinical course of MM into a chronic condition and meaning that management of comorbidities is fundamental to improve clinical outcomes. Cardiovascular (CV) events affect up to 7. Read More

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Recent advances in the diagnosis and management of amyloid cardiomyopathy.

Fac Rev 2021 24;10:31. Epub 2021 Mar 24.

Department of Cardiovascular Medicine, Heart and Vascular Institute, Cleveland Clinic, Cleveland, OH, USA.

Amyloidosis is a disorder characterized by misfolded precursor proteins that form depositions of fibrillar aggregates with an abnormal cross-beta-sheet conformation, known as amyloid, in the extracellular space of several tissues. Although there are more than 30 known amyloidogenic proteins, both hereditary and non-hereditary, cardiac amyloidosis (CA) typically arises from either misfolded transthyretin (ATTR amyloidosis) or immunoglobulin light-chain aggregation (AL amyloidosis). Its prevalence is more common than previously thought, especially among patients with heart failure and preserved ejection fraction (HFpEF) and aortic stenosis. Read More

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The Role of Light Kappa and Lambda Chains in Heart Function Assessment in Patients with AL Amyloidosis.

J Clin Med 2021 Mar 18;10(6). Epub 2021 Mar 18.

Department of Laboratory Medicine, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.

There are reports indicating that myocardial dysfunction in systemic immunoglobulin light chain amyloidosis (AL amyloidosis) stems not only from the amyloid deposit in the organ but also the cardiotoxicity of the amyloid precursor free light chains (FLCs) circulating in the blood. The aim of the study is to analyze the role of sFLC κ and λ in the assessment of heart involvement and the degree of myocardial damage in AL amyloidosis. The study involved 71 patients diagnosed with primary AL amyloidosis. Read More

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Spontaneous bilateral peri-orbital purpura: an important clinical sign of primary systemic amyloidosis.

BMJ Case Rep 2021 Apr 1;14(4). Epub 2021 Apr 1.

Department of Dermatology, Tallaght University Hospital, Dublin, Ireland.

A 69-year-old woman presented with an 18-month history of recurrent bruising of the eyelids. She was otherwise asymptomatic and systems review was unremarkable. On examination, she had peri-orbital purpura and waxy papules at the inner canthus of both eyes. Read More

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Systemic amyloidosis manifestation in a patient with psoriatic arthritis.

An Bras Dermatol 2021 May-Jun;96(3):324-327. Epub 2021 Mar 15.

Dermatology Department, Universidade de São Paulo, São Paulo, SP, Brazil.

Systemic amyloidosis secondary to psoriatic arthritis is rare, and published data are based mainly on case reports and are associated with increased mortality. This is the report of a patient with long-term psoriatic arthritis and chronic sialadenitis, who showed an inadequate response to therapy. The diagnosis of secondary amyloidosis was attained through biopsies of genital skin lesions. Read More

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Negatively Charged Peptide Nanofibrils from Immunoglobulin Light Chain Sequester Viral Particles but Lack Cell-Binding and Viral Transduction-Enhancing Properties.

ACS Omega 2021 Mar 9;6(11):7731-7738. Epub 2021 Mar 9.

Institute of Molecular Virology, Ulm University Medical Center, 89081 Ulm, Germany.

Positively charged naturally occurring or engineered peptide nanofibrils (PNF) are effective enhancers of lentiviral and retroviral transduction, an often rate-limiting step in gene transfer and gene therapy approaches. These polycationic PNF are thought to bridge the electrostatic repulsions between negatively charged membranes of virions and cells, thereby enhancing virion attachment to and infection of target cells. Here, we analyzed PNF, which are formed by the peptide AL1, that represents a fragment of an immunoglobulin light chain that causes systemic AL amyloidosis. Read More

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Laryngotracheobronchial amyloidosis: A case report.

Respir Med Case Rep 2021 4;32:101377. Epub 2021 Mar 4.

Department of Radiology, Ha Noi Medical University, Ha Noi, Viet Nam.

Primary laryngotracheobronchial amyloidosis is a rare pulmonary disease that can cause endobronchial stenosis. This disease has never previously been reported in Vietnam. We aimed to report a laryngotracheobronchial amyloidosis case in a 43-year-old female, which may be the first reported case in Vietnam. Read More

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Localized Peritumoral AL Amyloidosis Associated With Mantle Cell Lymphoma With Plasmacytic Differentiation.

Am J Surg Pathol 2021 Jul;45(7):939-944

Hematopathology Service.

Immunoglobulin light chain (AL) amyloidosis is characterized by the deposition of amyloid fibers derived from pathologic immunoglobulin light chains. Although systemic plasma cell neoplasms are the most common cause of AL amyloidosis, a subset of cases is caused by B-cell lymphoproliferative disorders such as lymphoplasmacytic lymphoma or extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue. Recently, SOX11-negative IGH hypermutated mantle cell lymphoma (MCL) is recognized to show frequent plasmacytic differentiation and indolent clinical course. Read More

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Primary isolated amyloidosis in the extraocular muscle as a rare cause of ophthalmoplegia: A case report and literature review.

Am J Ophthalmol Case Rep 2021 Jun 26;22:101052. Epub 2021 Feb 26.

Department of Ophthalmology, Asahikawa Medical University, 2-1-1 Midorigaoka, Higashi, Asahikawa, Hokkaido, 078-8510, Japan.

Purpose: To report a case of external ophthalmoplegia due to an uncommon form of amyloidosis exclusively affecting the lateral rectus muscle, and to discuss the clinical manifestation, diagnostic challenges, and management pitfalls of isolated amyloidosis in the extraocular muscle.

Observations: A 64-year-old woman presented with diplopia in her left gaze lasting for six months. She had orthophoria in the primary position and abduction limitation in the left eye. Read More

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Bilateral acquired nasolacrimal duct obstruction secondary to amyloidosis in a 15-year-old.

J AAPOS 2021 Apr 27;25(2):126-128. Epub 2021 Feb 27.

Department of Ophthalmology, Baylor College of Medicine, Houston, Texas; Department of Ophthalmology, Texas Children's Hospital, Houston, Texas. Electronic address:

A 15-year-old boy who presented with a 1-week history of increasing erythema, edema, and tenderness of the right upper and lower eyelids was found to have acquired nasolacrimal duct obstruction (NLDO) secondary to primary amyloidosis. To our knowledge, this is the youngest case of bilateral NLDO secondary to primary amyloidosis (biopsy proven for right NLDO and presumed for left NLDO) reported in the literature. This case highlights the importance of lacrimal sac biopsy in patients with acquired NLDO of unclear etiology. Read More

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A Unique Case of Combined Nodular and Tracheobronchial Amyloidosis.

Oxf Med Case Reports 2021 Feb 15;2021(2):omaa134. Epub 2021 Feb 15.

Department of Pulmonary and Critical Care Medicine, Cleveland Clinic, Cleveland, Ohio, USA.

Amyloidosis is a heterogeneous group of diseases characterized by the extracellular deposition of misfolded proteins that can affect either systemically or locally confined to one system. Pulmonary amyloidosis is rare and can be classified into three forms according to the anatomic site of involvement: nodular pulmonary amyloidosis, tracheobronchial amyloidosis and diffuse alveolar-septal amyloidosis. The former two usually represent localized amyloid disease and the latter represents systemic disease. Read More

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February 2021

Clinical approach to genetic testing in amyloid cardiomyopathy: from mechanism to effective therapies.

Curr Opin Cardiol 2021 05;36(3):309-317

Section of Cardiovascular Medicine, Department of Medicine.

Purpose Of Review: To highlight the evolving understanding of genetic variants, utility of genetic testing, and the selection of novel therapies for cardiac amyloidosis.

Recent Findings: The last decade has seen considerable progress in cardiac amyloidosis recognition given the advancement in cardiac imaging techniques and widespread availability of genetic testing. A significant shift in the understanding of a genetic basis for amyloidosis has led to the development of disease-modifying therapeutic strategies that improve survival. Read More

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Prognostic restaging after treatment initiation in patients with AL amyloidosis.

Blood Adv 2021 02;5(4):1029-1036

Division of Hematology and.

The utility of systemic light chain (AL) amyloidosis staging systems has been validated for newly diagnosed patients, but their role in restaging after treatment has not been explored. We designed this study to evaluate whether the currently used systems are of prognostic value at 3 and 6 months of starting first-line treatment, and whether stage migration from diagnosis impacts survival. This is a retrospective study including Mayo Clinic patients with AL amyloidosis diagnosed between 1 January 2006 and 30 June 2019; 536 and 204 patients had restaging data for at least 1 system at 3 and 6 months, respectively. Read More

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February 2021

A safety review of drug treatments for patients with systemic immunoglobulin light chain (AL) amyloidosis.

Expert Opin Drug Saf 2021 Apr 7;20(4):411-426. Epub 2021 Mar 7.

Amylodosis Research and Treatment Center, Foundation IRCCS Policlinico San Matteo, Pavia, Italy.

Introduction: In AL amyloidosis, a usually small plasma cell clone secretes unstable, amyloid-forming light chains, causing cytotoxicity and progressive (multi)organ function deterioration. Treatment aims at reducing/eradicating the underlying clone, to reduce/zero the supply of the amyloidogenic protein and halt the amyloidogenic cascade.

Areas Covered: Safety data of alkylating agents, proteasome inhibitors, immunomodulatory drugs, and monoclonal antibodies from clinical trials are reviewed. Read More

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Cryo-EM reveals structural breaks in a patient-derived amyloid fibril from systemic AL amyloidosis.

Nat Commun 2021 02 8;12(1):875. Epub 2021 Feb 8.

Institute of Protein Biochemistry, Ulm University, Ulm, Germany.

Systemic AL amyloidosis is a debilitating and potentially fatal disease that arises from the misfolding and fibrillation of immunoglobulin light chains (LCs). The disease is patient-specific with essentially each patient possessing a unique LC sequence. In this study, we present two ex vivo fibril structures of a λ3 LC. Read More

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February 2021

Coagulation Abnormalities in Light Chain Amyloidosis.

Mayo Clin Proc 2021 02;96(2):377-387

Division of Hematology, Mayo Clinic, Rochester, MN. Electronic address:

Objective: To assess the prevalence of coagulation abnormalities in patients with systemic light chain (AL) amyloidosis and their association with disease-related characteristics, disease progression, and survival.

Patients And Methods: This is a retrospective study of patients with AL amyloidosis seen at Mayo Clinic, Rochester, Minnesota, from January 1, 2006, to December 31, 2015. We studied the association between abnormal coagulation parameters and baseline characteristics and their association with survival outcomes. Read More

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February 2021

Association of Intravenous Immunoglobulins Plus Methylprednisolone vs Immunoglobulins Alone With Course of Fever in Multisystem Inflammatory Syndrome in Children.

JAMA 2021 03;325(9):855-864

ACTIV, Association Clinique et Thérapeutique Infantile du Val-de-Marne, Créteil, France.

Importance: Multisystem inflammatory syndrome in children (MIS-C) is the most severe pediatric disease associated with severe acute respiratory syndrome coronavirus 2 infection, potentially life-threatening, but the optimal therapeutic strategy remains unknown.

Objective: To compare intravenous immunoglobulins (IVIG) plus methylprednisolone vs IVIG alone as initial therapy in MIS-C.

Design, Setting, And Participants: Retrospective cohort study drawn from a national surveillance system with propensity score-matched analysis. Read More

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