Dataset Information

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.

ABSTRACT:

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.

SUBMITTER: Romani I

PROVIDER: S-EPMC8918192 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature

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Publications

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.

Romani Ilaria I Nencini Patrizia P Sarti Cristina C Pracucci Giovanni G Zedde Marialuisa M Nucera Antonia A Cianci Vittoria V Moller Jessica J Toni Danilo D Orsucci Daniele D Casella Carmela C Pinto Vincenza V Palumbo Pasquale P Barbarini Leonardo L Bella Rita R Ragno Michele M Scoditti Umberto U Mezzapesa Domenico Maria DM Tassi Rossana R Diomedi Marina M Cavallini Anna A Volpi Gino G Chiti Alberto A Bigliardi Guido G Sacco Simona S Linoli Giovanni G Ricci Stefano S Giordano Antonello A Bonetti Bruno B Rasura Maurizia M Cecconi Emanuela E Princiotta Cariddi Lucia L Currò Dossi Roberto R Melis Marta M Consoli Domenico D Guidetti Donata D Biagini Silvia S Accavone Donatella D Inzitari Domenico D

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 20211005 4

<h4>Background</h4>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 popul ...[more]

PMID: 34609660

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Dataset Information

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

Methods

Discussion

Publications

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.

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