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.

Adult Humans Incidence Ischemic Attack, Transient / diagnosis Italy / epidemiology Middle Aged Prospective Studies Registries Stroke / diagnosis
Fabry disease Genetic disorders Intracerebral hemorrhage Ischemic stroke Prevention TIA

Journal

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
ISSN: 1590-3478
Titre abrégé: Neurol Sci
Pays: Italy
ID NLM: 100959175

Informations de publication

Date de publication:
Apr 2022
Historique:
received: 06 06 2021
accepted: 17 09 2021
pubmed: 6 10 2021
medline: 16 3 2022
entrez: 5 10 2021
Statut: ppublish

Résumé

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. 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. 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.

Sections du résumé

BACKGROUND 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 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 CONCLUSIONS
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.

Identifiants

DOI: 10.1007/s10072-021-05615-2 PMID: 34609660 PMC: PMC8918192
pubmed: 34609660
doi: 10.1007/s10072-021-05615-2
pii: 10.1007/s10072-021-05615-2
pmc: PMC8918192
doi:

Types de publication

Journal Article Observational Study

Langues

eng

Sous-ensembles de citation

IM

Pagination

2433-2439

Subventions

Organisme : Takeda Pharmaceutical Company
ID : IIR-ITA-00977

Informations de copyright

© 2021. The Author(s).

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Auteurs

Ilaria Romani (I)

Department of Neurosciences, Psychology, Pharmacology, and Child Health (NEUROFARBA), University of Florence, Florence, Italy. ilaria.romani@unifi.it.
ORCID: 0000-0001-7966-3525

Patrizia Nencini (P)

Stroke Unit, Careggi University Hospital, Firenze, Italy.

Cristina Sarti (C)

Department of Neurosciences, Psychology, Pharmacology, and Child Health (NEUROFARBA), University of Florence, Florence, Italy.

Giovanni Pracucci (G)

Department of Neurosciences, Psychology, Pharmacology, and Child Health (NEUROFARBA), University of Florence, Florence, Italy.

Marialuisa Zedde (M)

Neurology, S. Maria Nuova Hospital, Reggio Emilia, Italy.

Antonia Nucera (A)

Neurovascular Treatment Unit, Spaziani Hospital, Frosinone, Italy.

Vittoria Cianci (V)

Neurology, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy.

Jessica Moller (J)

Neurology-Stroke Unit, Brotzu Hospital, Cagliari, Italy.

Danilo Toni (D)

Emergency Department Stroke Unit, Umberto I Polyclinic Hospital, Sapienza University of Rome, Rome, Italy.

Daniele Orsucci (D)

Neurology, Lucca Hospital, Lucca, Italy.

Carmela Casella (C)

Stroke Unit, Department of Clinical and Experimental Medicine, AOU Policlinico G. Martino, University of Messina, Messina, Italy.

Vincenza Pinto (V)

Neurology and Stroke Unit, Di Summa - Perrino Hospital, Brindisi, Italy.

Pasquale Palumbo (P)

Neurology, Neurophysiopathology, and Stroke Unit, Santo Stefano Hospital, Prato, Italy.

Leonardo Barbarini (L)

Stroke Unit, Fazzi Hospital, Lecce, Italy.

Rita Bella (R)

Acute Cerebrovascular Diseases Unit, Vittorio Emanuele University Hospital, Catania, Italy.

Michele Ragno (M)

Division of Neurology, C. e G. Mazzoni Hospital and Madonna del Soccorso Hospital, Ascoli Piceno, Italy.

Umberto Scoditti (U)

Neurology - Stroke Care Program, Parma University Hospital, Parma, Italy.

Domenico Maria Mezzapesa (DM)

University Neurology, Bari Polyclinic Hospital, Bari, Italy.

Rossana Tassi (R)

Neurosonology and Stroke Unit, Siena University Hospital, Siena, Italy.

Marina Diomedi (M)

Neurovascular Treatment Unit, Tor Vergata Polyclinic Hospital, Rome, Italy.

Anna Cavallini (A)

Stroke Unit, C. Mondino Foundation, Pavia, Italy.

Gino Volpi (G)

Neurology, San Iacopo Hospital, Pistoia, Italy.

Alberto Chiti (A)

Neurology, Apuane Hospital, Massa e Carrara, Italy.

Guido Bigliardi (G)

Stroke Unit, Sant'Agostino Estense New Hospital, Modena, Italy.

Simona Sacco (S)

Neurology and Stroke Unit, SS Filippo e Nicola Hospital , Avezzano, Italy.

Giovanni Linoli (G)

Neurology, San Donato Hospital, Arezzo, Italy.

Stefano Ricci (S)

Stroke Center - Neurology, Città Di Castello Hospital and Gubbio-Gualdo Tadino Hospital, Città di Castello, Italy.

Antonello Giordano (A)

Neurology, Guzzardi Hospital, Ragusa, Italy.

Bruno Bonetti (B)

Stroke Unit, Verona University Hospital, Verona, Italy.

Maurizia Rasura (M)

Neurology, Sant'Andrea Hospital, Rome, Italy.

Emanuela Cecconi (E)

Neurovascular Treatment Unit, Belcolle Hospital, Viterbo, Italy.

Lucia Princiotta Cariddi (L)

Neurology, Circolo University Hospital, Varese, Italy.

Roberto Currò Dossi (R)

Stroke Unit, Bolzano Hospital, Bolzano, Italy.

Marta Melis (M)

Neurology, Monserrato University Hospital, Cagliari, Italy.

Domenico Consoli (D)

Neurology, Jazzolino Hospital, Vibo Valentia, Italy.

Donata Guidetti (D)

Neurology, Da Saliceto Hospital, Piacenza, Italy.

Silvia Biagini (S)

Department of Neurosciences, Psychology, Pharmacology, and Child Health (NEUROFARBA), University of Florence, Florence, Italy.

Donatella Accavone (D)

Department of Neurosciences, Psychology, Pharmacology, and Child Health (NEUROFARBA), University of Florence, Florence, Italy.

Domenico Inzitari (D)

Department of Neurosciences, Psychology, Pharmacology, and Child Health (NEUROFARBA), University of Florence, Florence, Italy.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Fabry-Stroke Italian Registry (FSIR): a...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Fabry-Stroke Italian Registry (FSIR): a...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Collecte de données › Registre civil › Morbidité › Incidence › Fabry-Stroke Italian Registry (FSIR): a...
questionsmedicales.fr › Maladies cardiovasculaires › Maladies vasculaires › Angiopathies intracrâniennes › Encéphalopathie ischémique › Accident ischémique transitoire › Fabry-Stroke Italian Registry (FSIR): a...
questionsmedicales.fr › Régions géographiques › Europe › Italie › Fabry-Stroke Italian Registry (FSIR): a...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Fabry-Stroke Italian Registry (FSIR): a...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études prospectives › Fabry-Stroke Italian Registry (FSIR): a...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Collecte de données › Enregistrements › Fabry-Stroke Italian Registry (FSIR): a...
questionsmedicales.fr › Maladies cardiovasculaires › Maladies vasculaires › Angiopathies intracrâniennes › Accident vasculaire cérébral › Fabry-Stroke Italian Registry (FSIR): a...