Abstract Details

Title Fabry Disease and Acute Ischemic Stroke: A Prospective Study in Unselected Adults of Both Gender

Topic Cerebrovascular Disease and Interventional Neurology

Presentation(s) P04 - (-)

Poster/Presentation
Number 069

Objective

Background BACKGROUND: FD is an X-linked lysosomal storage disorder caused by mutations in the ?-galactosidase A gene (?-GAL A). Enzyme replacement therapy is available and can attenuate the disease progression. Published studies on the screening of ?-GAL A mutations in stroke patients are heterogeneous in methods and inclusion criteria. Recently, no FD patient was identified in a large population-based study.

Design/Methods DESIGN/METHODS: Consecutive patients with acute ischemic stroke/TIA, aged 18 to 60 years, and admitted to the Stroke Unit and Neurology of the Careggi Hospital Florence, Italy, between February 2011 and August 2012 were included prospectively. First-ever or recurrent strokes were screened for FD irrespective of gender, vascular risk factors, or stroke subtypes (TOAST criteria). In males, DNA analysis were done in the presence of low ?-galactosidase A activity in leukocytes. In females, DNA were sequenced. All patients gave informed consent.

Results RESULTS: We screened 98 (mean age 47.2 ± 6.8 yrs; male 62) patients: 17(17.3%) TIA and 81 (82.7%) ischemic stroke. Etiological subtypes were: large artery atherosclerosis in 10 (10.2%), cardioembolism in 23 (23.5%), small vessel disease in 14 (14.3%), other determined etiology in 21 (21.4%), undetermined in 30 (30.6%). Twenty-five (25.5%) patients suffered previous TIA/stroke. A mutation in ?-GAL A gene was identified in 3 (3.1%) patients: a 59-year old man (mutation R301G) with recurrent lacunar strokes and multiple risk factors; a 42-year old woman (mutation L415R) with recurrent cryptogenic minor strokes; and a 32-year old woman (deletion) with recurrent ischemic stroke and a previous diagnosis of vasculitis. The diagnostic delay from the first stroke was 5, 12, and 4 years, respectively.

Conclusions CONCLUSIONS: In this prospective study a systematic search for FD in patients with acute ischemic stroke/TIA allows the identification of otherwise unrecognized FD.

Authors/Disclosures
PRESENTER	No disclosure on file
	No disclosure on file
	No disclosure on file
Walter Borsini	No disclosure on file
Domenico Inzitari, MD (Careggi Hospital)	No disclosure on file

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