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.

Atrial Fibrillation and Resistant Stroke: Does Left Atrial Appendage Morphology Matter? A Case Report.

Introduction: Patients with atrial fibrillation (AF) can experience ischemic stroke despite adequate anticoagulant therapy. The secondary prevention strategy of these so-called "resistant strokes" is empirical. Since about 90% of patients with ischemic stroke due to atrial fibrillation have thrombus in left atrial appendage (LAA) we sought to explore the possibility that resistant stroke could have a LAA morphology resistant to anticoagulants. Case Report: A 77 years old man affected by AF experienced two cardioembolic ischemic stroke while on anticoagulants. The study of LAA showed a windsock-like morphology in the proximal part while distally the LAA presented a cauliflower morphology with a large amount of pectinate muscles and blood stagnation. The precise characteristics of LAA were properly understood integrating images obtained by cardiac CT, transesophageal echocardiography, and selective angiography. A high risky LAA for thrombus formation was diagnosed and its occlusion (LAAO) as an add-on therapy to anticoagulants was proposed and performed. Six month follow-up was uneventfully. Conclusion: The systematic study of LAA in patients with resistant-stroke could help to identify LAA malignant morphology. The efficacy on stroke recurrence of the combined therapy (anticoagulants plus LAAO) is worthy to be tested in randomized trials.