Abstract
BackgroundTIA 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.MethodsThe 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.DiscussionThe 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.
Highlights
Fabry disease (FD) (OMIM 301500) is an x-inherited glycosphingolipid storage disorder due to mutations in α-galactosidase A (GLA) gene; the deficient enzyme activityExtended author information available on the last page of the article determines a multi-organ disease with progressive manifestations
Neurological Sciences high-risk populations are increasingly used to facilitate its identification [3]. The effectiveness of this approach is still a matter of debate: along with some well-defined pathogenic mutations, screening programs seem to discover an unexpected high number of genetic variants of unknown significance (GVUS) and polymorphisms of GLA gene, and these findings have proved to be frequent among cerebrovascular patients [4]
Each patient < 60 years of age admitted for Transient ischemic attack (TIA), ischemic stroke (IS), or intracerebral hemorrhage (ICH) was screened for FD and listed in the Cerebrovascular-section of the Fabry-Stroke Italian Registry (FSIR)
Summary
Fabry disease (FD) (OMIM 301500) is an x-inherited glycosphingolipid storage disorder due to mutations in α-galactosidase A (GLA) gene; the deficient enzyme activityExtended author information available on the last page of the article determines a multi-organ disease with progressive manifestations. Neurological Sciences high-risk populations are increasingly used to facilitate its identification [3] The effectiveness of this approach is still a matter of debate: along with some well-defined pathogenic mutations (responsible for classical or later-onset Fabry disease), screening programs seem to discover an unexpected high number of genetic variants of unknown significance (GVUS) and polymorphisms of GLA gene, and these findings have proved to be frequent among cerebrovascular patients [4]. FD prevalence in high-risk populations varies between studies in relation to the interpretation that different Authors give to the identified genetic variants [5] Another factor that may influence the compute of the prevalence is the geographical area of origin of patients: in a recent review, FD has been found in 0.88% of individuals screened for a cerebrovascular disorder in non-Asian and in 0.62% in Asian countries [6]. 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
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