title: A male Fabry disease patient treated with intravenous thrombolysis for acute ischemic stroke.
abstract: The use of intravenous thrombolytic therapy for acute ischemic stroke is associated with improved outcomes. Fabry disease is an X-linked glycosphingolipid storage disease with vascular endothelial deposits. Affected males with the classic phenotype develop renal, cardiac, and cerebrovascular disease and die prematurely. However, Fabry disease is rare in young men with first ischemic stroke of undetermined cause. We report a 38-year-old man with acute aphasia and a left M2 segment of the middle cerebral artery thrombus with no recanalization who was finally diagnosed with Fabry disease after left ventricular hypertrophy of undetermined cause had been identified. A gene test revealed a R227X mutation typical of Fabry disease with the classical phenotype. To our knowledge our patient is the first reported male Fabry patient who was given intravenous thrombolytic therapy and the first reported Fabry patient who received intravenous thrombolytic therapy between 3 and 4.5 hours of the symptom onset. Despite favorable prognostic indicators on admission imaging, our patient suffered a significant stroke and had an unfavorable clinical outcome. Fortunately, the episode was not complicated by intracranial hemorrhage. Further studies are needed to evaluate the efficacy and safety of intravenous thrombolytic therapy in treating patients with Fabry disease and acute ischemic stroke.
authors.affiliation: Department of Neurology, Vaasa Central Hospital, 65100 Vaasa, Finland. Electronic address: jukka.saarinen@vshp.fi.
authors.forename: Jukka T
authors.initials: JT
authors.lastname: Saarinen
authors.affiliation: Medical Imaging Center, Tampere University Hospital, Tampere, Finland.
authors.forename: Niko
authors.initials: N
authors.lastname: Sillanpää
authors.affiliation: Department of Internal Medicine, Turku University Hospital, Turku, Finland.
authors.forename: Ilkka
authors.initials: I
authors.lastname: Kantola
mesh_terms: D000328:Adult; D001037:Aphasia / Q000209:etiology; D002545:Brain Ischemia / Q000150:complications* / Q000188:drug therapy*; D004185:Disability Evaluation; D000795:Fabry Disease / Q000150:complications* / Q000235:genetics; D005343:Fibrinolytic Agents / Q000627:therapeutic use*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D020521:Stroke / Q000150:complications* / Q000188:drug therapy*; D015912:Thrombolytic Therapy / Q000379:methods*; D016896:Treatment Outcome
chemical_list: D005343:Fibrinolytic Agents
keywords: Acute ischemic stroke; CT angiography; Fabry disease; Intracranial haemorrhage; Intravenous thrombolytic therapy; R227X mutation; Telestroke