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Anderson Fabry Disease

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https://www.readbyqxmd.com/read/28104284/-fabry-disease
#1
F Stephan, R Haber
Fabry disease, also known as Anderson-Fabry disease or angiokeratoma corporis diffusum universale, is an X-linked recessive form of sphingolipidosis caused by total or partial deficiency of the lysosomal hydrolase, alpha-galactosidase A. From the youngest age, it results in a gradual ubiquitous build-up of glycosphingolipids that are not degraded by the missing enzyme. Cutaneous, neurological, nephrologic, cardiac, gastrointestinal, ophthalmological, respiratory, cochleovestibular and haematological involvement are responsible for increased mortality and significant impairment of quality of life in subjects affected by the disease...
January 16, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28069318/right-ventricular-hypertrophy-systolic-function-and-disease-severity-in-anderson-fabry-disease-an-echocardiographic-study
#2
Francesca Graziani, Marianna Laurito, Maurizio Pieroni, Faustino Pennestrì, Gaetano Antonio Lanza, Valentina Coluccia, Antonia Camporeale, Daniela Pedicino, Elena Verrecchia, Raffaele Manna, Filippo Crea
BACKGROUND: Right ventricular (RV) involvement has been described in Anderson-Fabry disease (AFD), especially in patients with established Fabry cardiomyopathy (FC). However, few and controversial data on RV systolic function are available, and there are no specific tissue Doppler studies. METHODS: Detailed echocardiographic examinations were performed in 45 patients with AFD. FC, defined as maximal left ventricular wall thickness ≥ 15 mm, was present in 12...
January 6, 2017: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/27974158/clinicopathological-features-of-cardiac-glycolipid-storage-disease-in-an-adult-pug
#3
J N S N Tran, K J Ash, S V Seshan, K M Kelly
A 12-year-old neutered male pug suffered cardiac arrest and died under general anaesthesia during diagnostic imaging for evaluation of exercise intolerance and respiratory crisis. Histopathological evaluation revealed two types of storage material, glycolipid and lipopigment, having differential distributions in multiple organs. The heart was most strikingly affected and other less affected tissues included the liver, brain, kidneys and skin. Cardiomyocytes were swollen with extensive sarcoplasmic vacuolation together with coalescing areas of myocardial fibrosis...
December 11, 2016: Journal of Comparative Pathology
https://www.readbyqxmd.com/read/27960019/-glomerular-lipidosis
#4
Sandro Feriozzi
Lipidoses occur for an abnormal storage parenchymal deposition of lipids and products of their metabolism in large amounts or sometimes, involving only some particular tissue structures. The lipid storage is usually due to an inborn error causing an enzyme absence /deficiency in the primary lipidoses and to a complex metabolism alterations in the secondary forms. However, histologically all lipid depositions look very similar, and immunohistochemical investigation, clinical pictures knowledge and genetic tests need to make a correct diagnosis...
2016: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/27799574/segment-by-segment-assessment-of-left-ventricular-myocardial-affection-in-anderson-fabry-disease-by-non-enhanced-t1-mapping
#5
Thula C Walter, Gesine Knobloch, Sima Canaan-Kuehl, Andreas Greiser, Anja Sandek, Daniela Blaschke, Timm Denecke, Bernd Hamm, Marcus R Makowski
BACKGROUND: Anderson-Fabry disease (AFD) is an X-linked lysosomal enzyme disorder associated with an intracellular accumulation of sphingolipids, which shorten myocardial T1 relaxation times. Myocardial affection, however, varies between different segments. PURPOSE: To evaluate the specific segmental distribution and degree of segmental affection in AFD patients. MATERIAL AND METHODS: Twenty-five patients with AFD, 14 patients with hypertrophic cardiomyopathy (HCM), and 21 controls were included...
October 31, 2016: Acta Radiologica
https://www.readbyqxmd.com/read/27784855/improvement-in-microvascular-ischemia-after-enzyme-replacement-therapy-in-anderson-fabry-disease%C3%A3-computed-tomography-myocardial-perfusion-imaging
#6
Hideaki Yuki, Daisuke Utsunomiya, Yasuhiro Izumiya, Seitaro Oda, Masafumi Kidoh, Seiji Takashio, Megumi Yamamuro, Seiji Hokimoto, Yasuyuki Yamashita
No abstract text is available yet for this article.
January 25, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/27784854/focal-reduction-in-cardiac-123-i-metaiodobenzylguanidine-uptake-in-patients-with-anderson-fabry-disease
#7
Saori Yamamoto, Hideaki Suzuki, Koichiro Sugimura, Shunsuke Tatebe, Tatsuo Aoki, Masanobu Miura, Nobuhiro Yaoita, Haruka Sato, Katuya Kozu, Hideki Ota, Kentaro Takanami, Kei Takase, Hiroaki Shimokawa
BACKGROUND: It remains to be elucidated whether cardiac sympathetic nervous activity is impaired in patients with Anderson-Fabry disease (AFD).Methods and Results:We performed (123)I-meta-iodobenzylguanidine (MIBG) scintigraphy and gadolinium-enhanced cardiovascular magnetic resonance (CMR) in 5 AFD patients. MIBG uptake in the inferolateral wall, where wall thinning and delayed enhancement were noted on CMR, was significantly lower compared with the anteroseptal wall. The localized reduction in MIBG uptake was also noted in 2 patients with no obvious abnormal findings on CMR...
November 25, 2016: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/27735906/-the-neurological-manifestations-of-fabry-disease-a-review
#8
K V Firsov, A S Kotov
Fabry disease (Anderson-Fabry disease) is an X-linked recessive lysosomal storage disorder resulting from deficient activity of lysosomal hydrolase, alpha-galactosidase A (alpha-Gal A), which leads to progressive accumulation of globotriaosylceramide (Gb3) in various cells, predominantly endothelial and vascular smooth muscle cells, with clinical manifestations affecting major organs including the central nervous system. Manifestations of Fabry disease include progressive renal and cardiac insufficiency, neuropathic pain, stroke and cerebral disease, skin and gastrointestinal symptoms...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27613494/differential-diagnosis-of-left-ventricular-hypertrophy-usefulness-of-multimodality-imaging-and-tissue-characterization-with-cardiac-magnetic-resonance
#9
Cemil Izgi, Vassilis Vassiliou, A John Baksi, Sanjay K Prasad
Differential diagnosis of asymmetrical left ventricular hypertrophy may be challenging, particularly in patients with history of hypertension. A middle-aged man underwent an echocardiographic examination during workup for hypertension, which unexpectedly showed significant asymmetrical septal hypertrophy and raised suspicion for hypertrophic cardiomyopathy. Cardiovascular magnetic resonance confirmed the asymmetrical hypertrophy. No myocardial late gadolinium contrast enhancement was seen. However, precontrast T1 mapping revealed a low native myocardial T1 value...
November 2016: Echocardiography
https://www.readbyqxmd.com/read/27585510/challenges-in-the-diagnosis-of-anderson-fabry-disease-a-deceptively-simple-and-yet-complicated-genetic-disease
#10
EDITORIAL
Ali J Marian
No abstract text is available yet for this article.
September 6, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27585509/genetic-screening-of-anderson-fabry-disease-in-probands-referred-from-multispecialty-clinics
#11
Valentina Favalli, Eliana Disabella, Mariadelfina Molinaro, Marilena Tagliani, Anna Scarabotto, Alessandra Serio, Maurizia Grasso, Nupoor Narula, Carmela Giorgianni, Clelia Caspani, Monica Concardi, Manuela Agozzino, Calogero Giordano, Alexandra Smirnova, Takahide Kodama, Lorenzo Giuliani, Elena Antoniazzi, Riccardo G Borroni, Camilla Vassallo, Filippo Mangione, Laura Scelsi, Stefano Ghio, Carlo Pellegrini, Marialuisa Zedde, Laura Fancellu, GianPietro Sechi, Antonello Ganau, Stefania Piga, Annarita Colucci, Daniela Concolino, Maria Teresa Di Mascio, Danilo Toni, Marina Diomedi, Claudio Rapezzi, Elena Biagini, Massimiliano Marini, Maurizia Rasura, Maurizio Melis, Antonia Nucera, Donata Guidetti, Michelangelo Mancuso, Umberto Scoditti, Pamela Cassini, Jagat Narula, Luigi Tavazzi, Eloisa Arbustini
BACKGROUND: Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disease, caused by defects of the alpha-galactosidase A (GLA) gene. AFD can affect the heart, brain, kidney, eye, skin, peripheral nerves, and gastrointestinal tract. Cardiology (hypertrophic cardiomyopathy), neurology (cryptogenic stroke), and nephrology (end-stage renal failure) screening studies suggest the prevalence of GLA variants is 0.62%, with diagnosis confirmation in 0.12%. OBJECTIVES: This study sought to expand screening from these settings to include ophthalmology, dermatology, gastroenterology, internal medicine, pediatrics, and medical genetics to increase diagnostic yield and comprehensively evaluate organ involvement in AFD patients...
September 6, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27576727/long-term-treatment-with-enzyme-replacement-therapy-in-patients-with-fabry-disease
#12
Daniel Oder, Peter Nordbeck, Christoph Wanner
Anderson-Fabry disease is a potentially life-threatening hereditary lysosomal storage disorder taking origin in over 1,000 known pathogenic mutations in the alpha-galactosidase A encoding gene. Over the past 15 years, intravenous replacement therapy of the deficient alpha agalsidase A enzyme has been well-established retarding the progression of a multisystemic disease and organ involvement. Despite this innovative treatment approach, premature deaths still do occur. The response to enzyme replacement therapy (ERT) varies considerably and appears to depend on gender, genotype (classic or later onset/non-classic), stage of disease or age and agalsidase inhibition by anti-agalsidase antibodies...
2016: Nephron
https://www.readbyqxmd.com/read/27454104/enzyme-replacement-therapy-for-anderson-fabry-disease
#13
REVIEW
Regina El Dib, Huda Gomaa, Raíssa Pierri Carvalho, Samira E Camargo, Rodrigo Bazan, Pasqual Barretti, Fellype C Barreto
BACKGROUND: Anderson-Fabry disease is an X-linked defect of glycosphingolipid metabolism. Progressive renal insufficiency is a major source of morbidity, additional complications result from cardio- and cerebro-vascular involvement. Survival is reduced among affected males and symptomatic female carriers.This is an update of a Cochrane review first published in 2010, and previously updated in 2013. OBJECTIVES: To evaluate the effectiveness and safety of enzyme replacement therapy compared to other interventions, placebo or no interventions, for treating Anderson-Fabry disease...
July 25, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27333905/59-year-old-female-with-breathlessness
#14
Alessandra Scatteia, Estefania De Garate, Chiara Bucciarelli-Ducci
CLINICAL INTRODUCTION: A 59-year-old female underwent an electrocardiogram (ECG) and echocardiographic screening. Her brother died at quite a young age of kidney failure. Resting ECG showed borderline voltage criteria for left ventricular hypertrophy (LVH), with marked widespread T-wave inversion. Echocardiogram was normal, but in consideration of exertional breathlessness and abnormal baseline ECG, she underwent a coronary angiogram, which showed unobstructed coronaries. She was then referred to have a cardiac MR (CMR) for further characterisation...
October 15, 2016: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/27305064/reduced-right-ventricular-native-myocardial-t1-in-anderson-fabry-disease-comparison-to-pulmonary-hypertension-and-healthy-controls
#15
Joseph J Pagano, Kelvin Chow, Aneal Khan, Evangelos Michelakis, Ian Paterson, Gavin Y Oudit, Richard B Thompson
AIMS: Anderson-Fabry disease (AFD) is characterized by progressive multiorgan accumulation of intracellular sphingolipids due to α-galactosidase A enzyme deficiency, resulting in progressive ventricular hypertrophy, heart failure, arrhythmias, and death. Decreased native (non-contrast) left ventricular (LV) T1 (longitudinal relaxation time) with MRI discriminates AFD from healthy controls or other presentations of concentric hypertrophy, but the right ventricle (RV) has not been studied...
2016: PloS One
https://www.readbyqxmd.com/read/27255140/identification-of-cryptic-novel-%C3%AE-galactosidase-a-gene-mutations-abnormal-mrna-splicing-and-large-deletions
#16
Takashi Higuchi, Masahisa Kobayashi, Jin Ogata, Eiko Kaneshiro, Yohta Shimada, Hiroshi Kobayashi, Yoshikatsu Eto, Shiro Maeda, Akira Ohtake, Hiroyuki Ida, Toya Ohashi
Anderson-Fabry (FD) disease is an inborn error of metabolism caused by a deficiency of α-galactosidase A (GLA), a lysosomal enzyme. Many male FD patients display a classic FD phenotype; however, some female patients have neither reduced leukocyte GLA enzyme activity level nor FD symptoms. Thus, GLA gene analysis is especially important for diagnosing suspected FD in female subjects. In this study, we revealed 4 novel GLA gene mutations in 5 independent families using GLA cDNA analysis and multiplex ligation-dependent probe amplification (MLPA) analysis...
2016: JIMD Reports
https://www.readbyqxmd.com/read/27036375/cardiovascular-magnetic-resonance-demonstration-of-the-spectrum-of-morphological-phenotypes-and-patterns-of-myocardial-scarring-in-anderson-fabry-disease
#17
Djeven Parameshvara Deva, Kate Hanneman, Qin Li, Ming Yen Ng, Syed Wasim, Chantal Morel, Robert M Iwanochko, Paaladinesh Thavendiranathan, Andrew Michael Crean
BACKGROUND: Although it is known that Anderson-Fabry Disease (AFD) can mimic the morphologic manifestations of hypertrophic cardiomyopathy (HCM) on echocardiography, there is a lack of cardiovascular magnetic resonance (CMR) literature on this. There is limited information in the published literature on the distribution of myocardial fibrosis in patients with AFD, with scar reported principally in the basal inferolateral midwall. METHODS: All patients with confirmed AFD undergoing CMR at our center were included...
March 31, 2016: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/27005015/assessment-of-myocardial-fibrosis-with-t1-mapping-mri
#18
REVIEW
R J Everett, C G Stirrat, S I R Semple, D E Newby, M R Dweck, S Mirsadraee
Myocardial fibrosis can arise from a range of pathological processes and its presence correlates with adverse clinical outcomes. Cardiac magnetic resonance (CMR) can provide a non-invasive assessment of cardiac structure, function, and tissue characteristics, which includes late gadolinium enhancement (LGE) techniques to identify focal irreversible replacement fibrosis with a high degree of accuracy and reproducibility. Importantly the presence of LGE is consistently associated with adverse outcomes in a range of common cardiac conditions; however, LGE techniques are qualitative and unable to detect diffuse myocardial fibrosis, which is an earlier form of fibrosis preceding replacement fibrosis that may be reversible...
August 2016: Clinical Radiology
https://www.readbyqxmd.com/read/26913882/the-renal-history-of-fabry-disease
#19
Martina Gaggl, Sarah El-Hadi, Christof Aigner, Gere Sunder-Plassmann
In 1898 William Anderson and Johannes Fabry described the red-purple maculopapular skin lesions characteristic for Fabry disease and also mentioned the presence of proteinuria. Four decades later Maximiliaan Ruiter concluded that angiokeratoma corporis diffusum is the cutaneous manifestation of an inherited systemic internal disease. In 1947 autopsy findings of two cases who died from uraemia revealed sclerosis of glomeruli. At this time the presence of a thesaurismosis was also considered. The first renal needle biopsy in 1958 showed vacuolation and distension of the cells of the glomerular tufts and distal tubules suggestive of a storage disorder...
February 2016: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/26885733/state-of-the-art-clinical-applications-of-cardiac-t1-mapping
#20
REVIEW
Erik B Schelbert, Daniel R Messroghli
While cardiovascular magnetic resonance (MR) has become the noninvasive tool of choice for the assessment of myocardial viability and for the detection of acute myocardial edema, cardiac T1 mapping is believed to further extend the ability of cardiovascular MR to characterize the myocardium. Fundamentally, cardiovascular MR can improve diagnosis of disease that historically has been challenging to establish with other imaging modalities. For example, decreased native T1 values appear highly specific to detect and quantify disease severity related to myocardial iron overload states or glycosphingolipid accumulation in Anderson-Fabry disease, whereas high native T1 values are observed with edema, amyloid, and other conditions...
March 2016: Radiology
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