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    1631 results match your criteria Amyloidosis Primary Systemic

    1 OF 33

    Oligosecretory Myeloma With Amyloidosis and Alopecia.
    J Investig Med High Impact Case Rep 2018 Jan-Dec;6:2324709617752737. Epub 2018 Jan 24.
    Albany Stratton VA Medical Center, Albany, NY, USA.
    Amyloidosis is a systemic illness characterized by the extracellular deposition of abnormal proteins in body tissues and organs. In addition to renal involvement, amyloidosis can also present with a variety of skin manifestations, though rarely with alopecia. Sixteen cases of alopecia secondary to systemic amyloidosis are reported. Read More

    Amyloid fibril polymorphism: a challenge for molecular imaging and therapy.
    J Intern Med 2018 Mar 19;283(3):218-237. Epub 2018 Feb 19.
    Department of Physics, Chemistry and Biology, Division of Chemistry, Linköping University, Linköping, Sweden.
    The accumulation of misfolded proteins (MPs), both unique and common, for different diseases is central for many chronic degenerative diseases. In certain patients, MP accumulation is systemic (e.g. Read More

    Unfolding Cardiac Amyloidosis - From Pathophysiology to Cure.
    Curr Med Chem 2018 Jan 4. Epub 2018 Jan 4.
    Division of Cardiology, Medical University of Graz, Graz. Austria.
    Deposition of amyloidogenic proteins leading to the formation of amyloid fibrils in the myocardium cause cardiac amyloidosis. Although any form of systemic amyloidosis can affect the heart, light-chain (AL) or transthyretin amyloidosis (ATTR) account for the majority of diagnosed cardiac amyloid deposition. The extent of cardiac disease independently predicts mortality. Read More

    Association of amyloidosis cutis dyschromica and familial Mediterranean fever.
    An Bras Dermatol 2017 ;92(5 Suppl 1):21-23
    Department of Gastroenterology, Mugla Sitki Kocman University Medical School - Mugla, Turkey.
    Amyloidosis cutis dyschromica is a rare type of primary cutaneous amyloidosis characterized by reticulate hyper-pigmentation with discrete hypopigmented macules. Up to date, about 50 cases of amyloidosis cutis dyschromica have been reported and the majority are familial cases of Asian ethnicity. Various diseases, particularly autoimmune diseases such as systemic sclerosis and systemic lupus erythematosus, have been associated with amyloidosis cutis dyschromica. Read More

    Structure and energetic basis of overrepresented λ light chain in systemic light chain amyloidosis patients.
    Biochim Biophys Acta 2017 Dec 12. Epub 2017 Dec 12.
    Basic Science Program, Leidos Biomedical Research, Inc., Cancer and Inflammation Program, National Cancer Institute, Frederick, MD 21702, USA. Electronic address:
    Amyloid formation and deposition of immunoglobulin light-chain proteins in systemic amyloidosis (AL) cause major organ failures. While the κ light-chain is dominant (λ/κ=1:2) in healthy individuals, λ is highly overrepresented (λ/κ=3:1) in AL patients. The structural basis of the amyloid formation and the sequence preference are unknown. Read More

    Recurrent diffuse gastric bleeding as a leading symptom of gastrointestinal AL amyloidosis.
    Z Gastroenterol 2017 Dec 6;55(12):1318-1322. Epub 2017 Dec 6.
    Klinik für Gastroenterologie, Hepatologie und Infektiologie, Universitätsklinikum Magdeburg, Germany.
    Amyloidosis is a rare disease (incidence about 0.8/100 000) characterized by extracellular tissue deposition of fibrils composed of low molecular weight subunits of a variety of serum proteins. Clinical manifestations are largely determined by the type of precursor protein, the tissue distribution and the amount of amyloid deposition. Read More

    Concurrent structural and biophysical traits link with immunoglobulin light chains amyloid propensity.
    Sci Rep 2017 Dec 1;7(1):16809. Epub 2017 Dec 1.
    Dipartimento di Bioscienze, Università degli Studi di Milano, 20133, Milano, Italy.
    Light chain amyloidosis (AL), the most common systemic amyloidosis, is caused by the overproduction and the aggregation of monoclonal immunoglobulin light chains (LC) in target organs. Due to genetic rearrangement and somatic hypermutation, virtually, each AL patient presents a different amyloidogenic LC. Because of such complexity, the fine molecular determinants of LC aggregation propensity and proteotoxicity are, to date, unclear; significantly, their decoding requires investigating large sets of cases. Read More

    Diffuse Peritoneal and Bowel Wall Infiltration by Light Chain-AL Amyloidosis with Omental Calcification Mimicking Abdominal Carcinomatosis - An Elderly Female with Incidental Finding of Light Chain Monoclonal Gammopathy of Undetermined Significance (LC-MGUS).
    Am J Case Rep 2017 Nov 25;18:1247-1250. Epub 2017 Nov 25.
    Icahn School of Medicine at Mount Sinai-Queens Hospital Center, Jamaica, NY, USA.
    BACKGROUND Amyloidosis is the extracellular tissue deposition of plasma proteins, which after conformational changes, forms antiparallel beta pleated sheets of fibrils. Amyloid light-chain (AL) is a type of amyloidosis that is due to deposition of proteins derived from immunoglobulin (Ig) light chains. Gastrointestinal tract (GIT) involvement most often found in amyloid A (AA) amyloidosis type. Read More

    Case for diagnosis. Systemic light chain amyloidosis with cutaneous involvement.
    An Bras Dermatol 2017 Sep-Oct;92(5):731-732
    Dermatology Clinic - Santa Casa de Belo Horizonte - Belo Horizonte (MG), Brazil.
    Systemic light chain amiloydosis is a rare disease. Due to its typical cutaneous lesions, dermatologists play an essential role in its diagnosis. Clinical manifestations vary according to the affected organ and are often unspecific. Read More

    Abdominal fat pad excisional biopsy for the diagnosis and typing of systemic amyloidosis.
    Hum Pathol 2018 Feb 11;72:71-79. Epub 2017 Nov 11.
    Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:
    In the past, the diagnosis and typing of amyloidosis often required an invasive biopsy of an internal organ, such as the heart or kidneys. Abdominal fat pad excisional biopsy (FPEB) offers a less invasive approach, but the sensitivity of this technique has been unclear. To determine the sensitivity of FPEB for immunoglobulin light chain (AL) and transthyretin (ATTR) amyloidosis, we performed a retrospective clinicopathologic analysis of 97 patients who had undergone FPEB, of which 16 were positive for amyloid. Read More

    Regional differences in prognostic value of cardiac valve plane displacement in systemic light-chain amyloidosis.
    J Cardiovasc Magn Reson 2017 Nov 9;19(1):87. Epub 2017 Nov 9.
    Department of Cardiology, University of Heidelberg, INF 410, 69120, Heidelberg, Germany.
    Background: To compare the prognostic value of cardiac valve plane displacement (CVPD) on various locations in cardiac light chain (AL) amyloidosis.

    Methods: Consecutive patients with biopsy-proven cardiac involvement in AL amyloidosis who had undergone cardiovascular magnetic resonance (CMR) between 2005 and 2014 in our institution, were retrospectively identified and data analyzed. The primary combined endpoint was all-cause mortality or heart transplantation. Read More

    Elevation of Plasmin-α2-plasmin Inhibitor Complex Predicts the Diagnosis of Systemic AL Amyloidosis in Patients with Monoclonal Protein.
    Intern Med 2017 Oct 11. Epub 2017 Oct 11.
    Department of Gastroenterology, Rheumatology, and Clinical Immunology, Sapporo Medical University School of Medicine, Japan.
    Objective The complication of systemic immunoglobulin light chain (AL) amyloidosis in patients with monoclonal immunoglobulin affects the prognosis, but amyloid deposition in tissues is sometimes difficult to detect due to bleeding tendencies and preferential distributions. However, fibrinolysis is known to be exacerbated in patients with systemic AL amyloidosis specifically. We therefore explored new biomarkers for predicting a diagnosis of systemic AL amyloidosis focusing on coagulation and fibrinolysis markers. Read More

    Immunoparesis defined by heavy+light chain suppression is a novel marker of long-term outcomes in cardiac AL amyloidosis.
    Br J Haematol 2017 11 8;179(4):575-585. Epub 2017 Oct 8.
    Centre for Amyloidosis and Acute Phase Proteins, University College London (Royal Free Campus), London, UK.
    Cardiac involvement and presenting dFLC (difference between involved and uninvolved free light chains) are independent predictors of outcome in systemic AL amyloidosis. These markers have limited prognostic utility in patients surviving the initial months following diagnosis. Here we assessed immunoparesis, as determined by novel heavy+light chain (HLC) immunoassays, as a prognostic marker for survival in AL amyloidosis. Read More

    Idelalisib plus rituximab is effective in systemic AL amyloidosis secondary to chronic lymphocytic leukaemia.
    Hematol Oncol 2018 Feb 3;36(1):366-369. Epub 2017 Oct 3.
    Hematology and Clinical Immunology Unit, Department of Medicine, University of Padua, Padua, Italy.
    Light chain amyloidosis is characterized by the progressive deposition of immunoglobulin light chains into the extracellular tissue, leading to organ dysfunction. Usually, it is associated with an underlying clonal plasma cell dyscrasia and rarely with chronic lymphocytic leukaemia. Herein, we described the first report of a patient with relapsed chronic lymphocytic leukaemia harbouring TP53 abnormalities who developed, histologically proven, systemic light chain amyloidosis who was treated with the PI3K inhibitor, idelalisib, and rituximab. Read More

    Infectious and non-infectious complications in primary immunodeficiency disorders: an autopsy study from North India.
    J Clin Pathol 2017 Sep 28. Epub 2017 Sep 28.
    Department of Paediatrics (Allergy and Immunology Unit), Postgraduate Institute of Medical Education & Research (PGIMER), Chandigarh, India.
    Background: Primary immunodeficiency disorders (PID) include a wide spectrum of inherited disorders characterised by functional abnormalities of one or more components of the immune system. Recent updates from the genomic data have contributed significantly to its better understanding with identification of new entities. Diagnosis is always challenging due to their variable clinical presentation. Read More

    Current insight in the localized insulin-derived amyloidosis (LIDA): clinico-pathological characteristics and differential diagnosis.
    Pathol Res Pract 2017 Oct 1;213(10):1237-1241. Epub 2017 Sep 1.
    Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address:
    Background: In diabetic patients, subcutaneous insulin injection may cause several types of injection site-related lesions, such as lipoatrophy, insulin-induced cutaneous lipohypertrophy (IICL), allergic reaction, and iatrogenic localized insulin-derived amyloidosis (LIDA). Among these complications, both IICL and LIDA present as tumor-like and slow growing lesions; and they may be confused with one another. The clinical implication and management of IICL and LIDA are different. Read More

    Utility of abdominal skin plus subcutaneous fat and rectal mucosal biopsy in the diagnosis of AL amyloidosis with renal involvement.
    PLoS One 2017 19;12(9):e0185078. Epub 2017 Sep 19.
    National Clinical Research Center of Kidney Diseases, Jinling Hospital, Nanjing University School of Medicine, Nanjing, China.
    Objectives: Skin fat biopsy of the abdominal wall is a simple and safe method for detecting amyloidosis, and rectal mucosal biopsy is also frequently used for screening for the disease; however, the sensitivity of these approaches has not been fully studied. The aim of this study was to evaluate the efficacy of skin fat biopsy combined with rectal mucosal biopsy as a screening procedure for the diagnosis of systemic immunoglobulin light-chain (AL) amyloidosis.

    Methods: We retrospectively analyzed 224 AL amyloidosis patients confirmed by renal biopsy, including a test group of 165 patients and validation group of 59 patients. Read More

    The Lung in Dysregulated States of Humoral Immunity.
    Respiration 2017 15;94(5):389-404. Epub 2017 Sep 15.
    Université Paris 13, Sorbonne-Paris-Cité, EA2363, Paris, France.
    In common variable immunodeficiency, lung manifestations are related to different mechanisms: recurrent pneumonias due to encapsulated bacteria responsible for diffuse bronchiectasis, diffuse infiltrative pneumonia with various patterns, and lymphomas, mostly B cell extranodal non-Hodgkin type. The diagnosis relies on significant serum Ig deficiency and the exclusion of any primary or secondary cause. Histopathology may be needed. Read More

    Hepatic Amyloidosis: Something That Can camouflage and Deceive our Perception!
    Indian J Med Paediatr Oncol 2017 Apr-Jun;38(2):236-239
    Department of Gastroenterology, Kerala Institute of Medical Science and Research Centre, Trivandrum, Kerala, India.
    Amyloidosis is a multi-systemic diffusely infiltrating disease due to extracellular deposition of protein-mucopolysaccharide complexes. The type of protein deposited determines the subgroup of amyloid. Hepatic amyloidosis is a rare infiltrating disease affecting the hepatic parenchyma. Read More

    Visualization of multiple organ amyloid involvement in systemic amyloidosis usingC-PiB PET imaging.
    Eur J Nucl Med Mol Imaging 2018 Mar 10;45(3):452-461. Epub 2017 Sep 10.
    Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano, 390-8621, Japan.
    Purpose: To investigate the utility of Pittsburgh compound B (PiB) positron emission tomography (PET) imaging for evaluating whole-body amyloid involvement in patients with systemic amyloidosis.

    Methods: Whole-bodyC-PiB PET was performed in seven patients with systemic immunoglobulin light-chain (AL) amyloidosis, seven patients with hereditary transthyretin (ATTRm) amyloidosis, one asymptomatic TTR mutation carrier and three healthy controls. The correlations between clinical organ involvement, radiologicalC-PiB uptake and histopathological findings were analysed for each organ. Read More

    Characterization of isolated amyloid myopathy.
    Eur J Neurol 2017 Dec 5;24(12):1437-1445. Epub 2017 Oct 5.
    Department of Neurology, Mayo Clinic, Rochester, MN, USA.
    Background And Purpose: Amyloid myopathy frequently occurs in the setting of systemic amyloidosis and less commonly in isolation (isolated amyloid myopathy). Anoctaminopathy-5 and dysferlinopathy were recently recognized as causes of isolated amyloid myopathy. The present study aimed to characterize the isolated amyloid myopathy and to compare it with amyloid myopathy associated with systemic amyloidosis. Read More

    Clinical characteristics of laryngeal versus nonlaryngeal amyloidosis.
    Laryngoscope 2018 Mar 4;128(3):670-674. Epub 2017 Sep 4.
    Department of Otolaryngology-Head and Neck Surgery, Stanford School of Medicine, Stanford University, Stanford, California, U.S.A.
    Objectives/hypothesis: Amyloidosis represents a heterogeneous group of disorders marked by abnormal protein formation and deposition. Laryngeal amyloidosis is rare and classically thought to remain isolated with little risk of systemic involvement or associated malignancy. This study sought to further characterize differences in clinical characteristics between patients with laryngeal and nonlaryngeal amyloidosis. Read More

    A Plasma Cell Dyscrasia Presenting as Amyloid Cardiomyopathy and Autonomic Dysfunction in a Healthy Patient.
    Cureus 2017 Jun 29;9(6):e1409. Epub 2017 Jun 29.
    Cardiology, Staten Island University Hospital, Northwell Health.
    Systemic amyloidosis is a rare multisystem disease caused by incorrectly folded proteins that deposit pathologically in different tissues and organs of the human body. It has a very wide spectrum of clinical presentations according to the affected organ(s), and its diagnosis is commonly delayed. Cardiac involvement is the leading cause of morbidity and mortality and carries a poor prognosis, especially in primary light chain amyloidosis. Read More

    [Amyloidoma Adjacent to the Thoracic Vertebral Body Developed into Systemic Amyloid Light-chain amyloidosis].
    Kyobu Geka 2017 Aug;70(9):755-757
    Department of Respiratory Medicine, Yokohama Medical Center, Yokohama, Japan.
    Amyloidoma is very rare case of amyloidosis, and seldom develop into systemic disease. We report a case of an 82-year-old man who was referred to our hospital because of an oppressive feeling in the upper chest. Chest computed tomography showed a tumor on thoracic vertebral body. Read More

    Predictors of early treatment failure following initial therapy for systemic immunoglobulin light-chain amyloidosis.
    Amyloid 2017 Sep 12;24(3):183-188. Epub 2017 Jul 12.
    a Division of Hematology , Mayo Clinic , Rochester , MN , USA.
    We analysed factors predicting early treatment failure (ETF), after first-line therapy for light-chain amyloidosis (AL). AL amyloidosis patients seen at Mayo Clinic within 90 days of diagnosis, from 2006 to 2015, excluding those who died within 3 months of initial therapy, were analysed retrospectively. ETF was defined as progression requiring treatment change or death within 12 (ETF12) or 24 (ETF24) months of first-line treatment. Read More

    Increasing the accuracy of proteomic typing by decellularisation of amyloid tissue biopsies.
    J Proteomics 2017 Aug 21;165:113-118. Epub 2017 Jun 21.
    Wolfson Drug Discovery Unit, Centre for Amyloidosis and Acute Phase Proteins, University College London, London, UK; Department of Molecular Medicine, Institute of Biochemistry, University of Pavia, Pavia, Italy. Electronic address:
    Diagnosis and treatment of systemic amyloidosis depend on accurate identification of the specific amyloid fibril protein forming the tissue deposits. Confirmation of monoclonal immunoglobulin light chain amyloidosis (AL), requiring cytotoxic chemotherapy, and avoidance of such treatment in non-AL amyloidosis, are particularly important. Proteomic analysis characterises amyloid proteins directly. Read More

    Nodular cutaneous amyloidoma of the extremity secondary to chronic granulomatous inflammation in setting of sarcoidosis.
    J Cutan Pathol 2017 Sep 19;44(9):801-804. Epub 2017 Jul 19.
    Department of Dermatology and Cutaneous Surgery, University of Miami, Miller School of Medicine, Miami, Florida.
    Soft tissue amyloidoma is a rare condition that presents primarily in the abdomen and/or mediastinum and more uncommonly on the extremities. Soft tissue amyloidomas on the extremities have been associated with chronic inflammation, particularly when accompanied by AA-type amyloid deposition as seen in local trauma, surgery, hypertension and diabetes. To our knowledge, this is the first reported case of nodular cutaneous amyloidoma in the setting of systemic and cutaneous sarcoidosis. Read More

    Lenalidomide as a treatment for relapsed AL amyloidosis in an HIV-positive patient.
    Int J STD AIDS 2017 09 17;28(10):1045-1047. Epub 2017 Feb 17.
    Genitourinary Medicine, Queen Elizabeth Hospital, Birmingham, UK.
    We present a case of an HIV-positive man with systemic immunoglobulin light chain (AL) amyloid with cardiac involvement. At relapse, he was treated with lenalidomide and dexamethasone having previously developed autonomic neuropathy with bortezomib-based chemotherapy. The patient achieved a serological complete response with symptomatic improvement. Read More

    Incomplete ileus and hemafecia as the presenting features of multi-organ involved primary systemic AL amyloidosis: a rare case report.
    BMC Gastroenterol 2017 Jun 5;17(1):72. Epub 2017 Jun 5.
    The Third Xiangya Hospital of Central South University, 138 Tongzipo Road, Yuelu District Changsha, Hunan, 410013, China.
    Background: AL Amyloidosis is known to be a systemic disease affecting multiple organs and tissue while it's rare that patients present with gastrointestinal symptoms at first and later develop multiple-organ dysfuction. Clinical signs are not specific and the diagnosis is rarely given before performing immunofixation and endoscopy with multiple biopsies. We would like to emphasize the value of precise diagnostic process of AL amyloidosis. Read More

    Amyloidosis Cutis Dyschromica, a Rare Cause of Hyperpigmentation: A New Case and Literature Review.
    Pediatrics 2017 May;139(5)
    Department of General Pediatrics and Division of Pediatric Endocrinology and Diabetes, University Children's Hospital Heidelberg, Heidelberg, Germany; and.
    Amyloidosis cutis dyschromica is a rare form of primary cutaneous amyloidosis without systemic involvement and characterized by asymptomatic, progressive hyper- and hypopigmentation. We present the first case of a patient with amyloidosis cutis dyschromica diagnosed previously elsewhere as having Addison disease with generalized hyperpigmentation of the skin. This case suggests that in patients presenting with asymptomatic cutaneous dyschromia a skin biopsy for histopathological examination should be considered. Read More

    AL amyloidosis patients with low amyloidogenic free light chain levels at first diagnosis have an excellent prognosis.
    Blood 2017 08 26;130(5):632-642. Epub 2017 May 26.
    Amyloidosis Center and.
    The difference between involved minus uninvolved serum free light chains (dFLC) has been established as an invaluable hematologic parameter in systemic amyloid light chain (AL) amyloidosis. However, patients with an initial dFLC level <50 mg/L are currently deemed not evaluable for response to therapy. Therefore, we aimed to characterize this subgroup of patients and to define novel hematologic response parameters. Read More

    Common Fibril Structures Imply Systemically Conserved Protein Misfolding Pathways In Vivo.
    Angew Chem Int Ed Engl 2017 Jun 23;56(26):7510-7514. Epub 2017 May 23.
    Institute of Protein Biochemistry, Ulm University, Helmholtzstrasse 8/1, 89081, Ulm, Germany.
    Systemic amyloidosis is caused by the misfolding of a circulating amyloid precursor protein and the deposition of amyloid fibrils in multiple organs. Chemical and biophysical analysis of amyloid fibrils from human AL and murine AA amyloidosis reveal the same fibril morphologies in different tissues or organs of one patient or diseased animal. The observed structural similarities concerned the fibril morphology, the fibril protein primary and secondary structures, the presence of post-translational modifications and, in case of the AL fibrils, the partially folded characteristics of the polypeptide chain within the fibril. Read More

    Pattern of acute glomerulonephritis in adult population in Dubai: A single-center experience.
    Saudi J Kidney Dis Transpl 2017 May-Jun;28(3):571-578
    Department of Nephrology, Dubai Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
    Epidemiological data of renal diseases have great geographic variability throughout the world. Due to the lack of a national renal data registry system, there is no information on the prevalence rate, clinical and pathological features of various glomerulonephritis (GN) in the United Arab Emirates (UAE). In a retrospective cross-sectional study, we analyzed 158 renal biopsies done in Dubai Hospital, UAE, between the years of 2005 and September 2014, with an aim to determine the prevalence rate and frequency of different pathological patterns of GN in adult patients who presented with proteinuria ± hematuria. Read More

    Complications of hidradenitis suppurativa.
    Semin Cutan Med Surg 2017 Jun;36(2):79-85
    Department of Dermatology, University of California, San Francisco, USA.
    Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease characterized by recurrent painful nodules and abscesses involving intertriginous areas. Repeated episodes of profound inflammation in HS can lead to a number of complications, causing significant morbidity and decreasing quality of life. Complications of HS may affect the skin alone or may have systemic impact. Read More

    Multifocal primary cutaneous nodular amyloidosis.
    Dermatol Online J 2017 May 15;23(5). Epub 2017 May 15.
    Department of Dermatology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.
    Nodular cutaneous amyloidosis (NCA), the least common form of primary cutaneous amyloidosis, is characterized clinically by waxy, purpuric plaques and nodules and histologically by amyloid deposits in the dermis and subcutaneous tissue. We present a patient who developed multiple, non-contiguous NCA lesions over a three year period without evidence of systemic disease. We reviewed the literature and found few other cases of this unusual presentation. Read More

    AL Amyloidoma of the Skin/Subcutis: Cutaneous Amyloidosis, Plasma Cell Dyscrasia or a Manifestation of Primary Cutaneous Marginal Zone Lymphoma?
    Am J Surg Pathol 2017 Aug;41(8):1069-1076
    Departments of *Pathology †Medicine, Nova Scotia Health Authority (Central Zone) ‡Department of Pathology, Dalhousie University, Halifax, NS, Canada §Department of Dermatology, Fundación Jiménez Díaz, University Hospital La Princesa, Madrid, Spain ∥Dermatopathology Friedrichshafen, Friedrichshafen, Germany ¶Institute of Pathology and Microbiology, Wilhelminenspital, Vienna, Austria #Department of Dermatology, Research Unit Dermatopathology, Medical University of Graz, Graz, Austria.
    It is unclear whether AL amyloidoma of the skin/subcutis represents a distinct entity, an indolent precursor of systemic amyloidosis, or a manifestation of cutaneous marginal zone lymphoma (cMZL). We collected 10 cases of cutaneous AL amyloidoma in order to better characterize the clinicopathologic features of this elusive entity (M:F=4:6; median age: 62.5 y, range: 31 to 82 y). Read More

    Protein Misfolding, Amyloid Formation, and Human Disease: A Summary of Progress Over the Last Decade.
    Annu Rev Biochem 2017 Jun 12;86:27-68. Epub 2017 May 12.
    Department of Chemistry, Centre for Misfolding Diseases, University of Cambridge, Cambridge CB2 1EW, United Kingdom; email:
    Peptides and proteins have been found to possess an inherent tendency to convert from their native functional states into intractable amyloid aggregates. This phenomenon is associated with a range of increasingly common human disorders, including Alzheimer and Parkinson diseases, type II diabetes, and a number of systemic amyloidoses. In this review, we describe this field of science with particular reference to the advances that have been made over the last decade in our understanding of its fundamental nature and consequences. Read More

    Preclinical data support leveraging CS1 chimeric antigen receptor T-cell therapy for systemic light chain amyloidosis.
    Cytotherapy 2017 07 5;19(7):861-866. Epub 2017 May 5.
    Department of Hematology and Hematopoietic Cell Transplantation, City of Hope, Duarte, California, USA.
    Background Aims: Light chain amyloidosis (AL) is a protein deposition disorder that is a result of a plasma cell dyscrasia, similar to multiple myeloma (MM). Immunotherapy is an attractive approach because of the low burden of disease, but the optimal target for AL is unclear. CS1 and B-cell maturation antigen (BCMA) are two potential targets because they are expressed on normal plasma cells and MM cells. Read More

    Presentation and Outcomes of Localized Immunoglobulin Light Chain Amyloidosis: The Mayo Clinic Experience.
    Mayo Clin Proc 2017 Jun 5;92(6):908-917. Epub 2017 May 5.
    Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN. Electronic address:
    Objective: To describe treatment types, outcomes, and relapse patterns in patients with localized immunoglobulin light chain amyloidosis (AL).

    Patients And Methods: We included all patients with ALseen at Mayo Clinic in Rochester, Minnesota, from January 1, 1968, through June 30, 2014. The diagnosis of ALwas predicated on the presence of a Congo red-positive biopsy specimen and negative serum and urine immunofixation. Read More

    Stem cell transplantation for immunoglobulin light chain amyloidosis.
    Curr Probl Cancer 2017 Mar - Apr;41(2):129-137. Epub 2017 Mar 16.
    Department of Medicine, Mayo Clinic, Rochester, Minnesota.
    Systemic chemotherapy aimed at eradicating transformed plasma cells is the mainstay of treatment for immunoglobulin light chain amyloidosis (AL). Autologous stem cell transplantation (SCT) is a highly effective treatment for AL and can lead to long term survival in excess of 10 years in patients who achieve complete remission. Since AL is a unique disease characterized by multiple organ dysfunction, SCT poses unique challenges in this disease. Read More

    Light-chain cardiac amyloidosis: strategies to promote early diagnosis and cardiac response.
    Heart 2017 07 29;103(14):1065-1072. Epub 2017 Apr 29.
    Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA.
    Amyloid light chain (AL) amyloidosis is a systemic disease characterised by the aggregation of misfolded immunoglobulin light chain (LC), predominantly in the heart and kidneys, causing organ failure. If untreated, the median survival of patients with cardiac AL amyloidosis is 6 months from the onset of heart failure. Protracted time to establish a diagnosis, often lasting >1 year, is a frequent factor in poor treatment outcomes. Read More

    Flow cytometry-based immunophenotypic analysis of primary systemic light chain amyloidosis.
    Oncol Lett 2017 Apr 22;13(4):2691-2697. Epub 2017 Feb 22.
    Department of Hematology, First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, Guangdong 510080, P.R. China.
    Using flow cytometry, the present study aimed to investigate the immunophenotypic characteristics of malignant plasma cells (PCs) in the bone marrow of patients with primary systemic light chain amyloidosis (AL) compared with the characteristics of patients with multiple myeloma (MM). Flow cytometric results of 51 patients with AL and 150 patients with MM were reviewed. The proportion of total bone marrow PCs in the patients with AL was significantly lower than that in the patients with MM, 1. Read More

    Prevalence and predictors of thyroid functional abnormalities in newly diagnosed AL amyloidosis.
    J Intern Med 2017 Jun 24;281(6):611-619. Epub 2017 Apr 24.
    Division of Hematology, Mayo Clinic, Rochester, MN, USA.
    Background: Data on the effect of systemic immunoglobulin light chain amyloidosis (AL amyloidosis) on thyroid function are limited.

    Objective: To assess the prevalence of hypothyroidism in AL amyloidosis patients and determine its predictors.

    Methods: 1142 newly diagnosed AL amyloidosis patients were grouped based on the thyroid-stimulating hormone (TSH) measurement at diagnosis: hypothyroid group (TSH above upper normal reference; >5 mIU L; n = 217, 19% of study participants) and euthyroid group (n = 925, 81%). Read More

    Amyloid in bone marrow smears in systemic light-chain amyloidosis.
    Amyloid 2017 Mar 23;24(1):52-59. Epub 2017 Apr 23.
    a Amyloidosis Center, Department of Medicine V , University Hospital Heidelberg , Heidelberg , Germany.
    We performed a prospective sensitivity analysis to detect amyloid in bone marrow (BM) smears stained with Congo red (CR) and according to Pappenheim of patients with systemic light-chain (AL) amyloidosis. Results were directly compared to routine BM histology and fat aspiration. We analysed 198 BM smears from patients with the diagnosis or suspicion of systemic AL amyloidosis. Read More

    A case of amyloid myopathy diagnosed during the treatment of myopathy associated with anti-signal recognition particle antibodies.
    Rinsho Shinkeigaku 2017 04 30;57(4):168-173. Epub 2017 Mar 30.
    Department of Neurology, Shizuoka General Hospital.
    A 78-year-old man presented with subacute progressive proximal weakness and dysphagia. A biopsy specimen from the left biceps femoris revealed evidence of necrotic and regenerating muscle fibers, but lymphocyte infiltration was not noted. The patient was diagnosed with necrotizing myopathy with anti-signal recognition particle (SRP) antibodies. Read More

    Primary Localized Cutaneous Amyloidosis: A Systematic Treatment Review.
    Am J Clin Dermatol 2017 Oct;18(5):629-642
    Department of Dermatology, University Hospital Jena, Erfurter Straße 35, Jena, 07743, Germany.
    Background: Primary localized cutaneous amyloidosis (PLCA) is characterized by extracellular deposition of heterogenic amyloid proteins in the skin without systemic involvement. Lichen amyloidosis, macular amyloidosis, and (primary localized cutaneous) nodular amyloidosis are different subtypes of PLCA.

    Objective: The aim of this study was to review the current reported treatment options for PLCA. Read More

    Treatment patterns and outcome following initial relapse or refractory disease in patients with systemic light chain amyloidosis.
    Am J Hematol 2017 Jun 26;92(6):549-554. Epub 2017 Apr 26.
    Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA.
    We analyzed the outcomes following initial relapse or refractory disease in systemic light chain amyloidosis (AL) and the impact of type of therapy employed.A total of 1327 patients with AL seen at Mayo Clinic within 90 days of diagnosis, between 2006 and 2015, were reviewed. The study included 366 patients experiencing a documented hematological or organ relapse or refractory disease requiring start of second line therapy. Read More

    Total Artificial Heart Implantation as a Bridge to Heart Transplantation in an Active Duty Service Member With Amyloid Cardiomyopathy.
    Mil Med 2017 Mar;182(3):e1858-e1860
    Cedars-Sinai Medical Center, Heart Institute, 127 South San Vincente Boulevard, Los Angeles, CA 90048.
    Introduction: Cardiac involvement by light-chain (AL) amyloid occurs in up to 50% of patients with primary AL amyloidosis. The prognosis of amyloid heart disease is poor with 1-year survival rates of 35 to 40%. Historically, heart transplantation was considered controversial for patients with AL amyloid cardiomyopathy (CM) given the systemic nature of the disease and poor survival. Read More

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