Fabry-Stroke Italian Registry (FSIR): a nationwide, prospective, observational study about incidence and characteristics of Fabry-related stroke in young-adults. Presentation of the study protocol.

BACKGROUND: TIA and stroke, both ischemic and hemorrhagic, may complicate Fabry disease at young-adult age and be the first manifestation that comes to the clinician's attention. No definite indications have yet been elaborated to guide neurologists in Fabry disease diagnostics. In current practice, it is usually sought in case of cryptogenic strokes (while Fabry-related strokes can also occur by classical pathogenic mechanisms) or through screening programs in young cerebrovascular populations. Data on recurrence and secondary prevention of Fabry's stroke are scanty. METHODS: The study had a prospective observational design involving 33 Italian neurological Stroke Units. Considering the incidence of TIA/stroke in the European population aged < 60 years and the frequency of Fabry disease in this category (as foreseen by a pilot study held at the Careggi University-Hospital, Florence), we planned to screen for Fabry disease a total of 1740 < 60-year-old individuals hospitalized for TIA, ischemic, or hemorrhagic stroke. We investigated TIA and stroke pathogenesis through internationally validated scales and we gathered information on possible early signs of Fabry disease among all cerebrovascular patients. Every patient was tested for Fabry disease through dried blood spot analysis. Patients who received Fabry disease diagnosis underwent a 12-month follow-up to monitor stroke recurrence and multi-system progression after the cerebrovascular event. DISCUSSION: The potential implications of this study are as follows: (i) to add information about the yield of systematic screening for Fabry disease in a prospective large cohort of acute cerebrovascular patients; (ii) to deepen knowledge of clinical, pathophysiological, and prognostic characteristics of Fabry-related stroke.

Sequential endovascular thrombectomy approach (SETA) to acute ischemic stroke: preliminary single-centre results and cost analysis.

INTRODUCTION: We report the preliminary results of a single-centre experience in the endovascular treatment (ET) of acute ischemic stroke (AIS) with a sequential endovascular thrombectomy approach (SETA), which comprehends a direct aspiration first-pass technique (ADAPT) eventually followed by stent retriever thrombectomy. MATERIALS AND METHODS: We prospectively analyzed data from 16 patients with severe to moderate AIS and CT angiography demonstration of large intracranial vessel occlusion treated with SETA between July 2013 and March 2014. We evaluated recanalization rate, clinical outcome after 90 days as well as differential costs of aspiration and stent-assisted thrombectomy. RESULTS: A group of 16 patients met the eligibility criteria to undergo ET with a baseline NIHSS score of 22 (range 12-39). In 15/16 cases, we obtained target vessel recanalization, 11 cases with ADAPT technique alone. Modified rankin score (mRS) at 90 days follow-up was ≤2 in 9/16 patients (56%). ADAPT technique had a lower device-related cost than stent-assisted thrombectomy leading to an overall saving of -2,747.28 . CONCLUSIONS: Our preliminary data suggest that a SETA beginning with direct aspiration could be useful to optimize ET of stroke in terms of invasiveness, safety and cost-effectiveness allowing recanalization with low complication rate.