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Fabry's disease guidelines

Daniel Xibillé-Friedmann, Marcela Pérez-Rodríguez, Sandra Carrillo-Vázquez, Everardo Álvarez-Hernández, Francisco Javier Aceves, Mario C Ocampo-Torres, Conrado García-García, José Luis García-Figueroa, Javier Merayo-Chalico, Ana Barrera-Vargas, Margarita Portela-Hernández, Sandra Sicsik, Lilia Andrade-Ortega, Víctor Manuel Rosales-Don Pablo, Aline Martínez, Pilar Prieto-Seyffert, Mario Pérez-Cristóbal, Miguel Ángel Saavedra, Zully Castro-Colín, Azucena Ramos, Gabriela Huerta-Sil, María Fernanda Hernández-Cabrera, Luis Javier Jara, Leonardo Limón-Camacho, Lizbet Tinajero-Nieto, Leonor A Barile-Fabris
There are national and international clinical practice guidelines for systemic lupus erythematosus treatment. Nonetheless, most of them are not designed for the Mexican population or are devoted only to the treatment of certain disease manifestations, like lupus nephritis, or are designed for some physiological state like pregnancy. The Mexican College of Rheumatology aimed to create clinical practice guidelines that included the majority of the manifestations of systemic lupus erythematosus, and also incorporated guidelines in controversial situations like vaccination and the perioperative period...
May 4, 2018: Reumatología Clinica
Alberto Ortiz, Dominique P Germain, Robert J Desnick, Juan Politei, Michael Mauer, Alessandro Burlina, Christine Eng, Robert J Hopkin, Dawn Laney, Aleš Linhart, Stephen Waldek, Eric Wallace, Frank Weidemann, William R Wilcox
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene leading to deficient α-galactosidase A activity, glycosphingolipid accumulation, and life-threatening complications. Phenotypes vary from the "classic" phenotype, with pediatric onset and multi-organ involvement, to later-onset, a predominantly cardiac phenotype. Manifestations are diverse in female patients in part due to variations in residual enzyme activity and X chromosome inactivation patterns. Enzyme replacement therapy (ERT) and adjunctive treatments can provide significant clinical benefit...
April 2018: Molecular Genetics and Metabolism
Maaike van den Boomen, Riemer H J A Slart, Enzo V Hulleman, Rudi A J O Dierckx, Birgitta K Velthuis, Pim van der Harst, David E Sosnovik, Ronald J H Borra, Niek H J Prakken
BACKGROUND: Although cardiac MR and T1 mapping are increasingly used to diagnose diffuse fibrosis based cardiac diseases, studies reporting T1 values in healthy and diseased myocardium, particular in nonischemic cardiomyopathies (NICM) and populations with increased cardiovascular risk, seem contradictory. PURPOSE: To determine the range of native myocardial T1 value ranges in patients with NICM and populations with increased cardiovascular risk. STUDY TYPE: Systemic review and meta-analysis...
April 2018: Journal of Magnetic Resonance Imaging: JMRI
Shanat Baig, Nicky C Edward, Dipak Kotecha, Boyang Liu, Sabrina Nordin, Rebecca Kozor, James C Moon, Tarekegn Geberhiwot, Richard P Steeds
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A enzyme. Cardiovascular (CV) disease is a common cause of mortality in FD, in particular as a result of heart failure and arrhythmia, with a significant proportion of events categorized as sudden. There are no clear models for risk prediction in FD. This systematic review aims to identify the risk factors for ventricular arrhythmia (VA) and sudden cardiac deaths (SCD) in FD. A systematic search was performed following PRISMA guidelines of EMBASE, Medline, PubMed, Web of Science, and Cochrane from inception to August 2016, focusing on identification of risk factors for the development of VA or SCD...
October 17, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
Maarten Arends, Marieke Biegstraaten, Derralynn A Hughes, Atul Mehta, Perry M Elliott, Daniel Oder, Oliver T Watkinson, Frédéric M Vaz, André B P van Kuilenburg, Christoph Wanner, Carla E M Hollak
Despite enzyme replacement therapy, disease progression is observed in patients with Fabry disease. Identification of factors that predict disease progression is needed to refine guidelines on initiation and cessation of enzyme replacement therapy. To study the association of potential biochemical and clinical prognostic factors with the disease course (clinical events, progression of cardiac and renal disease) we retrospectively evaluated 293 treated patients from three international centers of excellence...
2017: PloS One
Raffaele Manna, Roberto Cauda, Sandro Feriozzi, Giovanni Gambaro, Antonio Gasbarrini, Didier Lacombe, Avi Livneh, Alberto Martini, Huri Ozdogan, Antonio Pisani, Eleonora Riccio, Elena Verrecchia, Lorenzo Dagna
Fever of unknown origin (FUO) is a rather rare clinical syndrome representing a major diagnostic challenge. The occurrence of more than three febrile attacks with fever-free intervals of variable duration during 6 months of observation has recently been proposed as a subcategory of FUO, Recurrent FUO (RFUO). A substantial number of patients with RFUO have auto-inflammatory genetic fevers, but many patients remain undiagnosed. We hypothesize that this undiagnosed subgroup may be comprised of, at least in part, a number of rare genetic febrile diseases such as Fabry disease...
October 2017: Internal and Emergency Medicine
Hunter C Wilson, Robert J Hopkin, Peace C Madueme, Richard J Czosek, Laurie A Bailey, Michael D Taylor, John L Jefferies
Anderson-Fabry Disease (AFD) is a lysosomal storage disorder that results in progressive cardiovascular hypertrophy, scarring, and arrhythmia burden; yet, the early cardiac phenotype of AFD is still poorly defined. To further characterize early cardiac features in AFD, we evaluated electrocardiographic and clinical findings contained in a local cohort of pediatric AFD patients and arrhythmia data in children enrolled in the Fabry Registry. Twenty-six local patients aged <18 years were identified (average age 9...
July 15, 2017: American Journal of Cardiology
Alessandra Mauri, Susanna Schmidt, Valentina Sosero, Maria Sambataro, Laura Nollino, Francesco Fabris, Anna Corò, Antonella Scantamburlo, Michela Cazziola-Merlotto, Tania Ciani, Michele Tessarin, Agostino Paccagnella
BACKGROUND: Therapeutic education for Type 1 Diabetes involves the process of transmitting knowledge and developing the skills and behavior required to treat the disease. guidelines agree on stressing the importance of therapeutic educational intervention in teaching self-management skills to children and adolescents with Type 1 Diabetes (T1D). This study presents the results of the "Pediatric Education for Type 1 Diabetes (T1D)" (PED) project, specifically designed for children and adolescents aged 6 to 16, and structured on guidelines indications, as part of a broader clinical-educational intervention for Type 1 diabetes...
February 7, 2017: Minerva Pediatrica
Maarten Arends, Christoph Wanner, Derralynn Hughes, Atul Mehta, Daniel Oder, Oliver T Watkinson, Perry M Elliott, Gabor E Linthorst, Frits A Wijburg, Marieke Biegstraaten, Carla E Hollak
Fabry disease leads to renal, cardiac, and cerebrovascular manifestations. Phenotypic differences between classically and nonclassically affected patients are evident, but there are few data on the natural course of classical and nonclassical disease in men and women. To describe the natural course of Fabry disease stratified by sex and phenotype, we retrospectively assessed event-free survival from birth to the first clinical visit (before enzyme replacement therapy) in 499 adult patients (mean age 43 years old; 41% men; 57% with the classical phenotype) from three international centers of excellence...
May 2017: Journal of the American Society of Nephrology: JASN
Thomas Sené, Olivier Lidove, Joel Sebbah, Jean-Marc Darondel, Hervé Picard, Laurent Aaron, Olivier Fain, Thierry Zenone, Dominique Joly, Philippe Charron, Jean-Marc Ziza
The incidence and predictive factors of arrhythmias and/or conduction abnormalities (ACAs) requiring cardiac device (CD) implantation are poorly characterized in Fabry disease (FD). The aim of our retrospective study was to determine the prevalence, incidence, and factors associated with ACA requiring CD implantation in a monocentric cohort of patients with confirmed FD who were followed up in a department of internal medicine and reference center for FD.Forty-nine patients (20M, 29F) were included. Nine patients (4M, 5F; 18%) had at least one episode of ACA leading to device therapy...
October 2016: Medicine (Baltimore)
Malte Lenders, Julia B Hennermann, Christine Kurschat, Arndt Rolfs, Sima Canaan-Kühl, Claudia Sommer, Nurcan Üçeyler, Christoph Kampmann, Nesrin Karabul, Anne-Katrin Giese, Thomas Duning, Jörg Stypmann, Johannes Krämer, Frank Weidemann, Stefan-Martin Brand, Christoph Wanner, Eva Brand
BACKGROUND: The aim of the present study was to assess manifestations of and applied treatment concepts for females with Fabry disease (FD) according to the current European Fabry Guidelines. METHODS: Between 10/2008 and 12/2014, data from the most recent visit of 261 adult female FD patients from six German Fabry centers were retrospectively analyzed. Clinical presentation and laboratory data, including plasma lyso-Gb3 levels were assessed. RESULTS: Fifty-five percent of females were on enzyme replacement therapy (ERT), according to recent European FD guidelines...
June 29, 2016: Orphanet Journal of Rare Diseases
Kuan-Hsuan Chen, Yueh Chien, Kang-Ling Wang, Hsin-Bang Leu, Chen-Yuan Hsiao, Ying-Hsiu Lai, Chien-Ying Wang, Yuh-Lih Chang, Shing-Jong Lin, Dau-Ming Niu, Shih-Hwa Chiou, Wen-Chung Yu
BACKGROUND: Fabry disease (FD) causes progressive glycosphingolipid accumulation and damage in various organs, and several proinflammatory processes may be involved in this disease. Enzyme replacement therapy (ERT) can reduce the severity of Fabry cardiomyopathy (FC), but whether ERT could attenuate proinflammatory cytokines in FC remains unclear. In this study, we attempted to evaluate the efficacy of ERT on proinflammatory cytokines and vascular cell adhesion biomarkers. METHODS: We enrolled 25 patients with FC and administered ERT to them according to the present clinical guideline...
October 2016: Canadian Journal of Cardiology
Linda Cassis, Elisenda Cortès-Saladelafont, Marta Molero-Luis, Delia Yubero, Maria Julieta González, Aida Ormazábal, Carme Fons, Cristina Jou, Cristina Sierra, Esperanza Castejon Ponce, Federico Ramos, Judith Armstrong, M Mar O'Callaghan, Mercedes Casado, Raquel Montero, Silvia Meavilla-Olivas, Rafael Artuch, Ivo Barić, Franco Bartoloni, Cinzia Maria Bellettato, Fedele Bonifazi, Adriana Ceci, Ljerka Cvitanović-Šojat, Christine I Dali, Francesca D'Avanzo, Ksenija Fumic, Viviana Giannuzzi, Christina Lampe, Maurizio Scarpa, Ángels Garcia-Cazorla
BACKGROUND: Inherited neurometabolic disorders (iNMDs) represent a group of almost seven hundred rare diseases whose common manifestations are clinical neurologic or cognitive symptoms that can appear at any time, in the first months/years of age or even later in adulthood. Early diagnosis and timely treatments are often pivotal for the favorable course of the disease. Thus, the elaboration of new evidence-based recommendations for iNMD diagnosis and management is increasingly requested by health care professionals and patients, even though the methodological quality of existing guidelines is largely unclear...
December 30, 2015: Orphanet Journal of Rare Diseases
Federico Pieruzzi, Maurizio Pieroni, Elisabetta Zachara, Nicola Marziliano, Amelia Morrone, Franco Cecchi
Anderson-Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations of the GLA gene that encodes alpha-galactosidase A. It is characterized by a multisystemic involvement: the renal, neurological, heart, cochleovestibular and cutaneous systems are the most damaged. Morbidity and mortality of Anderson-Fabry disease depend on renal insufficiency, heart failure and nervous system involvement. Left ventricular hypertrophy is the most common cardiac manifestation followed by conduction system disease, valve dysfunction, and arrhythmias...
November 2015: Giornale Italiano di Cardiologia
Robert J Hopkin, John L Jefferies, Dawn A Laney, Victoria H Lawson, Michael Mauer, Matthew R Taylor, William R Wilcox
Fabry disease is an inherited X-linked disorder that presents during childhood in male and female patients. Young patients may initially experience pain, hypohidrosis, and gastrointestinal symptoms. Other manifestations of Fabry disease, such as renal and cardiac disease, manifest later in adolescence or adulthood. In the pediatric population, renal damage is typically subclinical and identifiable only through biopsy. Specialists from the United States with expertise in Fabry disease convened during 2013-2014 in order to develop these consensus guidelines about the management and treatment of children with Fabry disease...
February 2016: Molecular Genetics and Metabolism
Vanja Bašić Kes, Marijan Cesarik, Iris Zavoreo, Silva Soldo Butković, Petar Kes, Nikolina Bašić-Jukić, Sanjin Rački, Marko Jakić, Diana Delić-Brkljačić, Zlatica Jukić, Zlatko Trkanjec, Vesna Šerić, Vesna Vargek Solter, Ivan Bielen, Silvio Bašić, Vida Demarin
Fabry disease (Anderson-Fabry disease) is one of the most common lysosomal storage diseases (after Gaucher disease) caused by deficient activity of the α-galactosidase A (α-Gal A) enzyme, which leads to progressive accumulation of globotriaosylceramide in various cells, predominantly in endothelium and vascular smooth muscles, with multisystem clinical manifestations. Estimates of the incidence range from one per 40,000 to 60,000 in males, and 1:117,000 in the general population. Pain is usually the first symptom and is present in 60%-80% of affected children, as well as gastrointestinal disturbances, ophthalmologic abnormalities and hearing loss...
April 2014: Acta Medica Croatica: C̆asopis Hravatske Akademije Medicinskih Znanosti
Charlotte M Niemeyer, Mignon L Loh, Annamaria Cseh, Todd Cooper, Christopher C Dvorak, Rebecca Chan, Blanca Xicoy, Ulrich Germing, Seiji Kojima, Atsushi Manabe, Michael Dworzak, Barbara De Moerloose, Jan Starý, Owen P Smith, Riccardo Masetti, Albert Catala, Eva Bergstraesser, Marek Ussowicz, Oskana Fabri, André Baruchel, Hélène Cavé, Michel Zwaan, Franco Locatelli, Henrik Hasle, Marry M van den Heuvel-Eibrink, Christian Flotho, Ayami Yoshimi
Juvenile myelomonocytic leukemia is a rare myeloproliferative disease in young children. While hematopoietic stem cell transplantation remains the only curative therapeutic option for most patients, children with juvenile myelomonocytic leukemia increasingly receive novel agents in phase I-II clinical trials as pre-transplant therapy or therapy for relapse after transplantation. However, response criteria or definitions of outcome for standardized evaluation of treatment effect in patients with juvenile myelomonocytic leukemia are currently lacking...
January 2015: Haematologica
Eefje B Suntjens, Bouwien E Smid, Marieke Biegstraaten, Wouter A Dreschler, Carla E M Hollak, Gabor E Linthorst
INTRODUCTION: Data on prevalence, natural history, and effect of enzyme replacement therapy (ERT) on hearing loss (HL) in Fabry disease (FD) are scarce. METHODS: This is a retrospective study with cross-sectional and longitudinal analyses. Low and high-frequency HL in the Dutch FD cohort was studied in four groups: classical and non-classical FD patients with or without ERT. To study effects of ERT, longitudinal data, corrected for age and gender according to ISO-1999 guidelines, were analyzed with mixed models...
March 2015: Journal of Inherited Metabolic Disease
Marijan Merkler, Ivan Pećin, Iveta Simić, Diana Muacević-Katanec, Nediljko Sućur, Zeljko Reiner
Early diagnosis and management of patients with Fabry disease (FD) requires a multidisciplinary approach of several different experts. The aim of this document is to provide health care professionals with guidelines for management of adult patients with Fabry disease. These guidelines were produced by the staff of the Division of Metabolic Diseases, Department of Internal Medicine, University Hospital Center Zagreb, which is the Referral Expert Center for Rare and Metabolic Diseases of the Ministry of Health, Republic of Croatia...
May 2014: Lijec̆nic̆ki Vjesnik
Rima El-Abassi, Divya Singhal, John D England
Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in α-galactosidase A. The abnormal accumulation of glycosphingolipids, primarily globotriaosylceramide, manifests as serious and progressive impairment of renal and cardiac functions. In addition, patients experience pain, gastrointestinal disturbance, transient ischemic attacks and strokes. Disease presentation in female heterozygotes may be as severe as in males although women may also remain asymptomatic...
September 15, 2014: Journal of the Neurological Sciences
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