Ilaria Romani1, Walter Borsini2, Patrizia Nencini3, Amelia Morrone4, Lorenzo Ferri2, Sabrina Frusconi5, Vincenzo Angelo Donadio6, Rocco Liguori7, Maria Alice Donati8, Serena Falconi5, Giovanni Pracucci2, Domenico Inzitari9. 1. NEUROFARBA Department, University of Florence, v.le Pieraccini 6, 50139 Florence, Italy. Electronic address: ilaria.romani@unifi.it. 2. NEUROFARBA Department, University of Florence, v.le Pieraccini 6, 50139 Florence, Italy. 3. Stroke Unit and Neurology, Heart and Vessels Department, Careggi Hospital, l.go Brambilla 3, 50134, Florence, Italy. 4. NEUROFARBA Department, University of Florence, v.le Pieraccini 6, 50139 Florence, Italy; Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, v.le Pieraccini 24, Florence, Italy. 5. Genetic Diagnostics Unit, Laboratory Department, Careggi Hospital, l.go Brambilla 3, 50134 Florence, Italy. 6. IRCCS Institute of Neurological Sciences, Bellaria Hospital, v. Altura 3, 40139 Bologna, Italy. 7. IRCCS Institute of Neurological Sciences, Bellaria Hospital, v. Altura 3, 40139 Bologna, Italy; DIBINEM Department, Alma Mater Studiorum, University of Bologna, v. Foscolo 7, 40123 Bologna, Italy. 8. Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, v.le Pieraccini 24, Florence, Italy. 9. NEUROFARBA Department, University of Florence, v.le Pieraccini 6, 50139 Florence, Italy; Stroke Unit and Neurology, Heart and Vessels Department, Careggi Hospital, l.go Brambilla 3, 50134, Florence, Italy.
Abstract
BACKGROUND AND PURPOSE: Cerebrovascular complications are often the first cause of hospitalization in patients with Fabry disease (FD). Screenings for FD among stroke patients have yielded discrepant results, likely as a result of heterogeneous or incomplete assessment. We designed a study to identify FD among adults 60 years of age or younger who were consecutively admitted for acute ischemic stroke or transient ischemic attack (TIA) to a stroke neurology service in Italy. METHODS: Patients with first-ever or recurrent events were included, irrespective of gender, risk factors, or stroke type. We screened male patients using α-galactosidase A enzyme assay, and female patients using DNA sequencing. FD was eventually established after a broad multidisciplinary discussion. RESULTS: We screened 108 patients (61% males, median age: 48 years); 84% of these patients had stroke. De novo FD diagnosis was established in 3 patients (2.8%; 95% confidence interval, .57-8.18): a 59-year-old man with recurrent lacunar-like strokes and multiple risk factors; a 42-year-old woman with recurrent cryptogenic minor strokes; and a 32-year-old woman with recurrent strokes previously attributed to Behçet's disease. Screened patients were systematically asked for typical FD symptoms; each of the de novo patients reported one or more of the following: episodes of hand/foot pain during fever, angiokeratoma, and family history of heart disease. In all of the patients events were recurrent, and lacunar-like infarcts characterized their brain imaging. CONCLUSIONS: Prevalence of FD among nonselected adults 60 years of age or younger with acute ischemic stroke or TIA is not negligible. A systematic search for FD in a stroke setting, using a comprehensive clinical, biochemical, and genetic screening protocol, may be worthwhile.
BACKGROUND AND PURPOSE:Cerebrovascular complications are often the first cause of hospitalization in patients with Fabry disease (FD). Screenings for FD among strokepatients have yielded discrepant results, likely as a result of heterogeneous or incomplete assessment. We designed a study to identify FD among adults 60 years of age or younger who were consecutively admitted for acute ischemic stroke or transient ischemic attack (TIA) to a stroke neurology service in Italy. METHODS:Patients with first-ever or recurrent events were included, irrespective of gender, risk factors, or stroke type. We screened male patients using α-galactosidase A enzyme assay, and female patients using DNA sequencing. FD was eventually established after a broad multidisciplinary discussion. RESULTS: We screened 108 patients (61% males, median age: 48 years); 84% of these patients had stroke. De novo FD diagnosis was established in 3 patients (2.8%; 95% confidence interval, .57-8.18): a 59-year-old man with recurrent lacunar-like strokes and multiple risk factors; a 42-year-old woman with recurrent cryptogenic minor strokes; and a 32-year-old woman with recurrent strokes previously attributed to Behçet's disease. Screened patients were systematically asked for typical FD symptoms; each of the de novo patients reported one or more of the following: episodes of hand/foot pain during fever, angiokeratoma, and family history of heart disease. In all of the patients events were recurrent, and lacunar-like infarcts characterized their brain imaging. CONCLUSIONS: Prevalence of FD among nonselected adults 60 years of age or younger with acute ischemic stroke or TIA is not negligible. A systematic search for FD in a stroke setting, using a comprehensive clinical, biochemical, and genetic screening protocol, may be worthwhile.
Authors: Cassiano Augusto Braga Silva; José A Moura-Neto; Marlene Antônia Dos Reis; Osvaldo Merege Vieira Neto; Fellype Carvalho Barreto Journal: Can J Kidney Health Dis Date: 2021-01-19
Authors: Aleš Tomek; Reková Petra; Jaroslava Paulasová Schwabová; Anna Olšerová; Miroslav Škorňa; Miroslava Nevšímalová; Libor Šimůnek; Roman Herzig; Štěpánka Fafejtová; Petr Mikulenka; Alena Táboříková; Jiří Neumann; Richard Brzezny; Helena Sobolová; Jan Bartoník; Daniel Václavík; Marta Vachová; Karel Bechyně; Hana Havlíková; Tomáš Prax; Daniel Šaňák; Irena Černíková; Iva Ondečková; Petr Procházka; Jan Rajner; Miroslav Škoda; Jan Novák; Ondřej Škoda; Michal Bar; Robert Mikulík; Gabriela Dostálová; Aleš Linhart Journal: PLoS One Date: 2021-12-14 Impact factor: 3.240