Read by QxMD icon Read

Light chain amyloidosis

Joshua T Byers, Xin Qing, Christopher Lo, Samuel W French, Ping Ji
Amyloidosis is a disorder characterized by the deposition of insoluble abnormal proteins in the extracellular space. It may occur as a localized lesion or as a systemic disease involving multiple organs and systems. Localized conjunctival amyloidosis is rare and is less frequently associated with systemic involvement. Although amyloidosis itself is a benign lesion involvement of multiple organs and systems is associated with poor prognosis. Diagnosis of amyloidosis is made on biopsy specimens with Congo red staining for the appearance of apple-green birefringence under polarized light microscopy...
March 15, 2018: Experimental and Molecular Pathology
Haruko Tashiro, Ryosuke Shirasaki, Masato Watanabe, Kazuo Kawasugi, Yoshihisa Takahashi, Naoki Shirafuji
We present a lymphoplasmacytic lymphoma patient with Factor X (FX) deficiency. Despite the absence of FX inhibitor, the administration of fresh frozen plasma and anti-inhibitor coagulant complex did not increase the FX level. The autopsy showed that massive amyloid depositions to multiple organs and FX existed in union with amyloidosis.
March 2018: Clinical Case Reports
Paolo Milani, Giampaolo Merlini, Giovanni Palladini
Light chain (AL) amyloidosis is caused by a usually small plasma-cell clone that is able to produce the amyloidogenic light chains. They are able to misfold and aggregate, deposit in tissues in the form of amyloid fibrils and lead to irreversible organ dysfunction and eventually death if treatment is late or ineffective. Cardiac damage is the most important prognostic determinant. The risk of dialysis is predicted by the severity of renal involvement, defined by the baseline proteinuria and glomerular filtration rate, and by the response to therapy...
2018: Mediterranean Journal of Hematology and Infectious Diseases
Eli Muchtar, Morie A Gertz, Shaji K Kumar, Grace Lin, Barry Boilson, Alfredo Clavell, Martha Q Lacy, Francis K Buadi, Suzanne R Hayman, Prashant Kapoor, David Dingli, S Vincent Rajkumar, Angela Dispenzieri, Martha Grogan
AIM: Digoxin is considered contraindicated in light-chain (AL) amyloidosis, given reports of increased toxicity published 30-50 years ago. We sought to determine the frequency of digoxin toxicity in patients with AL. METHODS: We identified 107 patients with AL amyloidosis who received digoxin between 2000 and 2015. RESULTS: The median age was 65 and the median digoxin dose and estimated glomerular filtration rate were 0.125 mg/d and 55 ml/min/1...
March 12, 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
Wengen Chen, Van-Khue Ton, Vasken Dilsizian
PURPOSE OF REVIEW: The two most common types of cardiac amyloidosis are caused by fibril deposits of immunoglobulin light chains (AL) and transthyretin (TTR), each with distinct prognosis and clinical management. Cardiac amyloidosis is under-recognized among heart failure patients with preserved ejection fraction (HFpEF). Bone-seeking tracers like99m Tc-PYP and99m Tc-DPD have long been used to identify cardiac amyloidosis, and more recently, to differentiate TTR from AL cardiac amyloidosis in symptomatic patients...
March 8, 2018: Current Cardiology Reports
Naveen L Pereira, Martha Grogan, G William Dec
Restrictive cardiomyopathies are the least common form of heart muscle disease. They are characterized as infiltrative and noninfiltrative, storage diseases, and endomyocardial disorders. Genetic diseases commonly present during childhood or adolescence. However, a growing percentage of elderly patients with heart failure with preserved ejection fraction are being recognized as having forms of restrictive cardiomyopathy, particularly cardiac amyloidosis. Noninvasive evaluation has replaced endomyocardial biopsy in the diagnostic evaluation of most suspected etiologies...
March 13, 2018: Journal of the American College of Cardiology
Norman C Charles, Irina Belinsky, Habeeb Ahmad
Conjunctival amyloid is usually of the immunoglobulin light chain (AL) variety. The authors report an exceptional case of bilateral limbal amyloid deposits that were identified by mass spectrometry as keratin-related specifically regarding to basal keratinocyte keratins 5 and 14. Cytokeratin-related amyloid has been described by immunohistochemical analysis of formalin-fixed cutaneous and mucous membrane lesions but not ocular tissues. The conjunctival lesion in the right eye contained intraepithelial dyskeratotic cells that extended to the surface, causing a lacy leukoplakia on clinical examination...
March 2, 2018: Ophthalmic Plastic and Reconstructive Surgery
Surbhi Sidana, Nidhi Tandon, Angela Dispenzieri, Morie A Gertz, David Dingli, Dragan Jevremovic, William G Morice, Prashant Kapoor, Taxiarchis V Kourelis, Martha Q Lacy, Suzanne R Hayman, Francis K Buadi, Nelson Leung, Ronald S Go, Yi Lin, Stephen J Russell, John A Lust, Steven R Zeldenrust, Rahma Warsame, Yi L Hwa, Miriam Hobbs, Amie Fonder, Robert A Kyle, S Vincent Rajkumar, Shaji K Kumar, Wilson I Gonsalves
We evaluated the prognostic impact of clonal circulating plasma cells (cPCs) detected by six-color multi-parametric flow cytometry (MFC) in light chain (AL) amyloidosis at diagnosis. Of the 154 patients who underwent MFC, cPCs were detected in 42% (n = 65) patients. Median number of cPCs was 81 per 150,000 events (range: 6-17,844). High bone marrow plasma cell percentage was an independent predictor of presence of cPCs. Presence of cPCs at diagnosis was associated with inferior overall survival (OS) (90 vs...
February 21, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
Natalia Tovar, Luis Gerardo Rodríguez-Lobato, Maria Teresa Cibeira, Laura Magnano, Ignacio Isola, Laura Rosiñol, Joan Bladé, Carlos Fernández de Larrea
OBJECTIVES: Prognosis of immunoglobulin light-chain (AL) amyloidosis depends mainly on the presence of cardiac involvement and the disease burden. A higher bone marrow plasma cell (BMPC) burden has been recognized as an adverse prognostic factor. The aim of our study was to analyze the correlation between the BMPC infiltration, clinical features and outcomes in patients with AL amyloidosis. METHODS: The clinical records of 79 patients with AL amyloidosis treated at a single institution...
February 26, 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
Pavla Flodrova, Patrik Flodr, Tomas Pika, Jiri Vymetal, Dusan Holub, Petr Dzubak, Marian Hajduch, Vlastimil Scudla
Amyloidosis is a heterogeneous group of diseases characterised by extracellular accumulation of amyloid in various tissues and organs of the body, leading to alteration and destruction of tissues. Heart involvement is the most important prognostic factor in patients with systemic amyloidosis and the diagnosis and typing of amyloid must be made properly. The clinical picture shows congestive heart failure with predominant right-sided heart failure symptoms in fully developed disease, various types of arrhythmias and characteristic electrocardiography and echocardiography findings...
February 12, 2018: Pathology
L Li, X J Duan, Y Sun, Y Lu, H Y Xu, Q Z Wang, H Y Wang
Objective: To evaluate the sensitivity and specificity of immunohistochemistry (IHC) in the classification of cardiac amyloidosis on endomyocardial biopsy (EMB) and heart allograft. Methods: Twenty cardiac tissues from 19 patients at Fuwai Hospital from January, 1990 to April, 2017 with histopathologic features of amyloidosis and Congo red staining positivity were included. IHC was performed with monoclonal antibodies against AA amyloid and polyclonal antibodies against transthyretin (ATTR), λ-light chain (AL-λ), κ-light chain (AL-κ), ApoAⅠ, ApoAⅡ, ApoA Ⅳ and β(2)-microglobin...
February 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
Pooja Phull, Vaishali Sanchorawala, Lawreen H Connors, Gheorghe Doros, Frederick L Ruberg, John L Berk, Shayna Sarosiek
OBJECTIVE: To identify the prevalence of monoclonal gammopathy of undetermined significance (MGUS) in patients with transthyretin (ATTR) amyloidosis. PATIENTS AND METHODS: We performed a retrospective analysis of patients with biopsy-proven ATTRwt (wild-type transthyretin amyloid protein) and genopositive ATTR V122I (valine-to-isoleucine substitution at position 122 of the TTR gene) amyloidosis evaluated at the Amyloidosis Center at Boston University and Boston Medical Center between 1 January 2003 and 31 December 2016...
February 9, 2018: Amyloid: the International Journal of Experimental and Clinical Investigation
Seung Woon Park, Sam Ryong Jee, Ji Hyun Kim, Sang Heon Lee, Jin Won Hwang, Ji Geon Jang, Dong Woo Lee, Sang Yong Seol
Amyloidosis is defined as the extracellular deposition of non-branching fibrils composed of a variety of serum-protein precursors. Secondary amyloidosis is associated with several chronic inflammatory conditions, such as rheumatologic or intestinal diseases, familial Mediterranean fever, or chronic infectious diseases, such as tuberculosis. Although the association of amyloidosis with inflammatory bowel disease is known, amyloidosis secondary to ulcerative colitis (UC) is rare. A 36-year-old male patient with a 15-year history of UC presented with nausea, vomiting, and abdominal pain...
January 2018: Intestinal Research
Anum Bilal, Paul Der Mesropian, Franklin Lam, Gulvahid Shaikh
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. There is one reported case that presented with alopecia universalis. We report a case of a 68-year-old woman presenting with alopecia universalis, rapid decline in kidney function, and nephrotic syndrome who was found to have multiple myeloma-associated AL amyloidosis (immunoglobulin light chain)...
January 2018: Journal of Investigative Medicine High Impact Case Reports
Amit P Java, Kevin L Greason, Angela Dispenzieri, Martha Grogan, Katherine S King, Joseph J Maleszewski, Richard C Daly, Mackram F Eleid, Alberto Pochettino, Hartzell V Schaff
BACKGROUND: Outcome data on aortic valve replacement in patients with amyloidosis are limited. To address this issue, we reviewed our experience of patients with amyloidosis who underwent aortic valve replacement. METHODS: We retrospectively reviewed the records of 16 patients with amyloidosis who underwent aortic valve replacement between May 2000 and February 2017. RESULTS: The cohort comprised 11 males (69%) and 5 females (31%). The median patient age was 76 years (interquartile range [IQR], 71-82 years), and Society of Thoracic Surgeons predicted rate of mortality was 5...
December 19, 2017: Journal of Thoracic and Cardiovascular Surgery
Tiffany P Quock, Tingjian Yan, Eunice Chang, Spencer Guthrie, Michael S Broder
AIM: To estimate healthcare utilization and costs in amyloid light-chain (AL) amyloidosis. PATIENTS & METHODS: AL amyloidosis patients were identified in 2007-2015 claims databases if they had ≥1 inpatient/≥2 outpatient claims consistent with AL amyloidosis and received ≥1 AL-specific treatment. Descriptive statistics were reported. RESULTS: 50.1% (n = 3670) were admitted ≥1 time during the year, 11.3% (n = 827) ≥3 times. From 2007 to 2015, bortezomib use increased from 4...
February 2, 2018: Journal of Comparative Effectiveness Research
Linge Sun, Lei Zhang, Wenlu Hu, Tian-Fang Li, Shengyun Liu
INTRODUCTION: Amyloid light chain (AL) results from the deposition of immunoglobulin light chain fragments, and can affect multiple organs/systems. Our patient was diagnosed as scleroderma repeatedly because of extensive skin thickening and hardening, but the treatment was not effective. We did extensive laboratory examinations including serum/urine protein electrophoresis and flow cytometry assay of bone marrow aspiration. CONCLUSION: A diagnosis of primary AL amyloidosis was established...
December 2017: Medicine (Baltimore)
Efstathios Kastritis, Ioannis Papassotiriou, Giampaolo Merlini, Paolo Milani, Evangelos Terpos, Marco Basset, Athanasios Akalestos, Francesca Russo, Erasmia Psimenou, Filia Apostolakou, Maria Roussou, Maria Gavriatopoulou, Evangelos Eleutherakis Papaiakovou, Despina Fotiou, Dimitrios C Ziogas, Elektra Papadopoulou, Constantinos Pamboucas, Meletios A Dimopoulos, Giovanni Palladini
Growth differentiation factor-15 (GDF-15) improves prognostication in patients with cardiovascular disorders in addition to conventional cardiac markers (NT-proBNP, troponins) and has shown prognostic value in patients with renal diseases. In patients with AL amyloidosis cardiac involvement is the major determinant of prognosis and cardiac markers define prognosis, while biomarkers of renal involvement stratify renal risk. We explored the prognostic importance of serum levels of GDF-15 in patients with AL amyloidosis, in two independent cohorts...
January 31, 2018: Blood
Michiko Aoki, Dedong Kang, Akira Katayama, Naomi Kuwahara, Shinya Nagasaka, Yoko Endo, Mika Terasaki, Shinobu Kunugi, Yasuhiro Terasaki, Akira Shimizu
BACKGROUND: Liquid chromatography-tandem mass spectrometry (LC-MS/MS) has recently been utilized to accurately detect the amyloid proteins of renal amyloidosis. The present study investigated the optimal procedures for analyzing samples by LCMS/MS, and the advantage of using this technique to diagnosis renal amyloidosis. METHODS: To detect amyloid proteins, laser microdissected glomeruli from AL (n = 13) or AA (n = 10) renal amyloidosis patients were digested and analyzed by LCMS/MS...
January 25, 2018: Clinical and Experimental Nephrology
Kathleen C Gallagher, Ariana B Geromes, John Stokes, India A Reddy, James S Lewis, Naira Baregamian
Primary amyloidosis (PA) is a protein deposition disorder that presents with localized or multisystemic disease. The incidence is low in the general public, ranging from three to eight cases per million, and with nonspecific presenting symptoms typically occurring later in life. Due to late presentation, substantial and irreversible damage has usually already occurred by the time of the diagnosis. However, if inadvertent diagnosis occurs before irreversible damage has taken place, as it did in the following case, some patients may benefit from the disease-arresting treatment...
February 1, 2018: Journal of the Endocrine Society
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"