title: De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack.
abstract: OBJECTIVE
  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.
authors: NEUROFARBA Department, University of Florence, v.le Pieraccini 6, 50139 Florence, Italy. Electronic address: ilaria.romani@unifi.it.
authors: Ilaria
authors: I
authors: Romani
authors: NEUROFARBA Department, University of Florence, v.le Pieraccini 6, 50139 Florence, Italy.
authors: Walter
authors: W
authors: Borsini
authors: Stroke Unit and Neurology, Heart and Vessels Department, Careggi Hospital, l.go Brambilla 3, 50134, Florence, Italy.
authors: Patrizia
authors: P
authors: Nencini
authors: 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.
authors: Amelia
authors: A
authors: Morrone
authors: NEUROFARBA Department, University of Florence, v.le Pieraccini 6, 50139 Florence, Italy.
authors: Lorenzo
authors: L
authors: Ferri
authors: Genetic Diagnostics Unit, Laboratory Department, Careggi Hospital, l.go Brambilla 3, 50134 Florence, Italy.
authors: Sabrina
authors: S
authors: Frusconi
authors: IRCCS Institute of Neurological Sciences, Bellaria Hospital, v. Altura 3, 40139 Bologna, Italy.
authors: Vincenzo Angelo
authors: VA
authors: Donadio
authors: 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.
authors: Rocco
authors: R
authors: Liguori
authors: Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, v.le Pieraccini 24, Florence, Italy.
authors: Maria Alice
authors: MA
authors: Donati
authors: Genetic Diagnostics Unit, Laboratory Department, Careggi Hospital, l.go Brambilla 3, 50134 Florence, Italy.
authors: Serena
authors: S
authors: Falconi
authors: NEUROFARBA Department, University of Florence, v.le Pieraccini 6, 50139 Florence, Italy.
authors: Giovanni
authors: G
authors: Pracucci
authors: 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.
authors: Domenico
authors: D
authors: Inzitari
mesh_terms: D000293:Adolescent; D000328:Adult; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D002546:Ischemic Attack, Transient / Q000150:complications*; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D012720:Severity of Illness Index; D018709:Statistics, Nonparametric; D020521:Stroke / Q000150:complications*; D055815:Young Adult; D000519:alpha-Galactosidase / Q000235:genetics
chemical_list: D000519:alpha-Galactosidase
keywords: Acute ischemic stroke; Fabry disease; GLA gene variants; Screening in epidemiology