Laura Fancellu1, Walter Borsini2, Ilaria Romani3, Angelo Pirisi4, Giovanni Andrea Deiana5, Elia Sechi6, Pietro Emiliano Doneddu7, Anna Laura Rassu8, Rita Demurtas9, Anna Scarabotto10, Pamela Cassini11, Eloisa Arbustini12, GianPietro Sechi13. 1. Department of Clinical and Experimental Medicine, University of Sassari, Viale S. Pietro, 10, 07100, Sassari, Italy. laura.fancellu@gmail.com. 2. Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy. walterborsini@gmail.com. 3. Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy. ilaria.romani@unifi.it. 4. Department of Clinical and Experimental Medicine, University of Sassari, Viale S. Pietro, 10, 07100, Sassari, Italy. angelopirisi@tiscali.it. 5. Department of Clinical and Experimental Medicine, University of Sassari, Viale S. Pietro, 10, 07100, Sassari, Italy. gdeiana@uniss.it. 6. Department of Clinical and Experimental Medicine, University of Sassari, Viale S. Pietro, 10, 07100, Sassari, Italy. eliasechi@icloud.com. 7. Department of Clinical and Experimental Medicine, University of Sassari, Viale S. Pietro, 10, 07100, Sassari, Italy. donpietros@hotmail.com. 8. Department of Clinical and Experimental Medicine, University of Sassari, Viale S. Pietro, 10, 07100, Sassari, Italy. a.laura87@hotmail.it. 9. Department of Clinical and Experimental Medicine, University of Sassari, Viale S. Pietro, 10, 07100, Sassari, Italy. dmrrti.1@gmail.com. 10. Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, Policlinico San Matteo, University Hospital, Pavia, Italy. a.scarabotto@alice.it. 11. Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, Policlinico San Matteo, University Hospital, Pavia, Italy. p.cassini@smatteo.pv.it. 12. Centre for Inherited Cardiovascular Diseases, IRCCS Foundation, Policlinico San Matteo, University Hospital, Pavia, Italy. e.arbustini@smatteo.pv.it. 13. Department of Clinical and Experimental Medicine, University of Sassari, Viale S. Pietro, 10, 07100, Sassari, Italy. gpsechi@uniss.it.
Abstract
BACKGROUND: The etiologic determinants of stroke in young adults remain a diagnostic challenge in up to one-fourth of cases. Increasing evidences led to consider Fabry's disease (FD) as a possible cause to check up. We aimed at evaluating the prevalence of unrecognized FD in a cohort of patients with juvenile stroke in northern Sardinia. METHODS: For this study, we enrolled 178 patients consecutively admitted to our Neurological Ward for ischemic stroke, transient ischemic attack, intracerebral haemorrhage, neuroradiological evidence of silent infarcts, or white matter lesions possibly related to cerebral vasculopathy at brain MRI, and cerebral venous thrombosis. The qualifying events have to occur between 18 and 55 years of age. RESULTS: We identified two patients with an α-galactosidase A gene variant, with a prevalence of 0.9 %. According to recent diagnostic criteria, one patient, included for the occurrence of multiple white matter lesions at brain MRI, had a diagnosis of definite FD, the other, included for ischemic stroke, had a diagnosis of uncertain FD. CONCLUSIONS: Our study places in a middle position among studies that found a prevalence of FD up to 4 % and others that did not find any FD patients. Our findings confirm that FD should be considered in the differential diagnosis of patients with juvenile stroke, particularly those with a personal or familial history positive for cerebrovascular events, or evidence of combined cardiologic and/or renal impairment. All types of cerebrovascular disorders should be screened for FD, including patients with white matter lesions possibly related to cerebral vasculopathy at brain MRI.
BACKGROUND: The etiologic determinants of stroke in young adults remain a diagnostic challenge in up to one-fourth of cases. Increasing evidences led to consider Fabry's disease (FD) as a possible cause to check up. We aimed at evaluating the prevalence of unrecognized FD in a cohort of patients with juvenile stroke in northern Sardinia. METHODS: For this study, we enrolled 178 patients consecutively admitted to our Neurological Ward for ischemic stroke, transient ischemic attack, intracerebral haemorrhage, neuroradiological evidence of silent infarcts, or white matter lesions possibly related to cerebral vasculopathy at brain MRI, and cerebral venous thrombosis. The qualifying events have to occur between 18 and 55 years of age. RESULTS: We identified two patients with an α-galactosidase A gene variant, with a prevalence of 0.9 %. According to recent diagnostic criteria, one patient, included for the occurrence of multiple white matter lesions at brain MRI, had a diagnosis of definite FD, the other, included for ischemic stroke, had a diagnosis of uncertain FD. CONCLUSIONS: Our study places in a middle position among studies that found a prevalence of FD up to 4 % and others that did not find any FDpatients. Our findings confirm that FD should be considered in the differential diagnosis of patients with juvenile stroke, particularly those with a personal or familial history positive for cerebrovascular events, or evidence of combined cardiologic and/or renal impairment. All types of cerebrovascular disorders should be screened for FD, including patients with white matter lesions possibly related to cerebral vasculopathy at brain MRI.
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Authors: Marieke Biegstraaten; Reynir Arngrímsson; Frederic Barbey; Lut Boks; Franco Cecchi; Patrick B Deegan; Ulla Feldt-Rasmussen; Tarekegn Geberhiwot; Dominique P Germain; Chris Hendriksz; Derralynn A Hughes; Ilkka Kantola; Nesrin Karabul; Christine Lavery; Gabor E Linthorst; Atul Mehta; Erica van de Mheen; João P Oliveira; Rossella Parini; Uma Ramaswami; Michael Rudnicki; Andreas Serra; Claudia Sommer; Gere Sunder-Plassmann; Einar Svarstad; Annelies Sweeb; Wim Terryn; Anna Tylki-Szymanska; Camilla Tøndel; Bojan Vujkovac; Frank Weidemann; Frits A Wijburg; Peter Woolfson; Carla E M Hollak Journal: Orphanet J Rare Dis Date: 2015-03-27 Impact factor: 4.123