22. European Stroke Conference 256 Etiology of stroke and risk factors Screening for Fabry disease in unselected acute ischemic stroke /TIA P. Nencini1, I. Romani2, W. Borsini3, F. Torricelli4, D. Inzitari5, A. Donati6 Stroke Unit and Neurology, Careggi Hospital, Florence, ITALY1, Stroke Unit and Neurology, Careggi Hospital, Florence, ITALY2, Stroke Unit and Neurology, Careggi Hospital, Florence, IT-ALY3, Genetic Laboratory, Careggi Hospital, Florence, ITALY4, Stroke Unit e Neurology, Careggi Hospital, Florence, ITALY5, Meyer Hospital, Florence, ITALY6 Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase A (alpha-GAL-A) gene resulting in vascular endothelial glycosphingolipid accumulation. Enzyme replacement therapy is available and can attenuate the disease progression. Published studies on the screening of alpha-GAL-A mutation in stroke patients are heterogeneous and mainly directed to first-ever cryptogenic stroke. Recently, no FD patients was identified a large population-based study. Method: We prospectively screened for FD consecutive patients with acute ischemic stroke/TIA, aged 18 to 60 years, and admitted to a tertiary referral hospital (Careggi Hospital Florence, Italy) be-tween February 2011 and August 2012. All first-ever or recurrent strokes were included irrespective of gender, vascular risk factors, stroke subtypes (TOAST criteria), or co-morbidities. In males, DNA analysis was done in the presence of low alpha–galactosidase A activity in leukocytes. In females, DNA was sequenced. All patients gave informed consent. Results: We screened 98 (mean age: 47.2 ± 6.8 years; male 62) patients: 17 (17.3%) had TIA, and 81 (82.7%) ischemic stroke. A cryptogenic subtype was present in 30 (30.6%) patients. A mutation in alpha–GAL-A gene was identified in 3 (12%) out of 25 recurrent TIA/stroke patients and in no patient with a first-ever episode (p<0.02). Previous diagnosis of FD patients was cryptogenic in 1 (F, 42 yrs, mutation L4165R); small vessel disease in 1 (M, 59 yrs, mutation R301G); and vasculitis treated with immunosuppressive drugs in 1 (F, 32 yrs, deletion). The diagnostic delay from the first episode of cerebral ischemia was 12 years, 5 years, and 4 years, respectively. Conclusions: In this prospective study a systematic search for FD in unselected patients with acute ischemic stroke/TIA allows the identification of otherwise unrecognized FD. The yield for FD screening is higher in patients with recurrent cerebral ischemia. 422 © 2013 S. Karger AG, Basel Scientific Programme 257 Etiology of stroke and risk factors Measurement of the cerebral autoregulatory index (CARI) may be useful in identifying a sub-group of patients with Orthostatic Hypotension at greater risk of cerebral hypoperfusion & ischaemia J. Cooke1, B. Deegan2, C. O’Connor3, S. Ryan4, J. Saunders5, P. Finucane6, M. O’Connor7, C. Quinn8, D. Lyons9 Graduate Entry Medical School, University of Limerick, Limerick, IRELAND1, Electrical & Electronic Engineering, College of Engineering and Informatics, National University of Ire-land Galway, Galway, IRELAND2, Department of Medicine, Division of Ageing & Therapeutics, Midwestern Regional Hospital, Limerick, IRELAND3, Department of Medicine, Division of Age-ing & Therapeutics, Midwestern Regional Hospital, Limerick, IRELAND4, Statistical Consulting Unit, University of Limerick, Limerick, IRELAND5, Graduate Entry Medical School, University of Limerick, Limerick, IRELAND6, Department of Medicine, Division of Ageing & Therapeutics, Midwestern Regional Hospital, Limerick, IRELAND7, Graduate Entry Medical School, University of Limerick, Limerick, IRELAND8, Department of Medicine, Division of Ageing & Therapeutics, Midwestern Regional Hospital, Limerick, IRELAND9 Introduction: Orthostatic Hypotension (OH) is associated with a two-fold increased risk of stroke and has been implicated in the pathogenesis of multi-infarct disease and vascular dementia. Cerebral autoregulation in the context of OH however is preserved in the majority of individuals. This causes difficulty translating the population-level increased risk of cerebral ischaemia into a predictor of hy-poperfusion at the level of an individual patient. Beat-to-beat technology can identify OH in as many as 94% of older adults. Our objective was to determine if the cerebral autoregulatory index (CARI) could be used to distinguish a subgroup of subjects with OH more likely to experience cerebral hypoperfusion with orthostasis. Methods: Transcranial Doppler was used to measure Middle Cerebral Artery (MCA) Mean Flow Velocity (MFV) at 0, 5, 15, 30, 60, 90, 120, 150, and 180s following both active stand and head-up tilt (HUT). Simultaneous beat-to-beat BP recording was performed using a Finometer. Results were expressed as percentage of baseline MCA flow. The CARI was calculated by measuring the cerebral blood flow response to the immediate fluctuation in BP associated with active stand testing. Results: 18 subjects were recruited (7M:11F). They had a median age of 72.5 years. All subjects met the 20/10mmHg criteria for OH. 2 subjects had an abnormal CARI (< 3). The remaining 16 subjects had a median CARI of 7. MCA CBF was consistently lower in the group with CARI <3 (see Table 1). The difference in percentage of baseline MCA flow was most marked post HUT and approached significance at 30 & 60s (Absolute difference of 13.3% with p=0.08 & 18.3% p=0.07). Conclusions: Measurement of CARI in addition to standard beat-to-beat BP measurement appears to identify a subgroup of individuals with OH who are at a greater risk of cerebral hypoperfusion. Further work will be required to reproduce this observation in a larger sample and also to determine whether this subgroup represent the group at greatest risk of cerebral ischaemia associated with OH.
Karger_ESC London_2013
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