BACKGROUND: Fabry disease (FD) is a rare hereditary lysosomal storage disease that has been highlighted as a possible etiology of stroke at a young age. Enlarged basilar artery diameters (BADs) have been demonstrated in FD, and we hypothesize that they might be useful for the screening of FD in young stroke patients. The aim of this study was to compare BADs of young stroke patients without FD to those of FD patients and of healthy age-matched controls. METHODS: BADs were measured using MR angiography in 3 age- and gender-matched groups: 25 FD patients (aged 36.5 ± 11.0 years), 26 non-FD stroke patients and 20 healthy controls. RESULTS: Compared to the non-FD stroke patients, FD patients had significantly enlarged BADs. FD patients could be significantly separated from stroke patients by BADs (area under the curve = 0.89, 95% confidence interval 0.81-0.98). Eighty-six percent of all subjects could be correctly classified by BADs (sensitivity 84%, specificity 88.5%). CONCLUSIONS: Enlarged BADs were able to detect FD within a cohort of FD, stroke patients and healthy controls. BAD measurement could be an easily obtainable and sensitive screening tool for FD in young stroke patients.
BACKGROUND:Fabry disease (FD) is a rare hereditary lysosomal storage disease that has been highlighted as a possible etiology of stroke at a young age. Enlarged basilar artery diameters (BADs) have been demonstrated in FD, and we hypothesize that they might be useful for the screening of FD in young strokepatients. The aim of this study was to compare BADs of young strokepatients without FD to those of FDpatients and of healthy age-matched controls. METHODS: BADs were measured using MR angiography in 3 age- and gender-matched groups: 25 FDpatients (aged 36.5 ± 11.0 years), 26 non-FDstrokepatients and 20 healthy controls. RESULTS: Compared to the non-FDstrokepatients, FDpatients had significantly enlarged BADs. FDpatients could be significantly separated from strokepatients by BADs (area under the curve = 0.89, 95% confidence interval 0.81-0.98). Eighty-six percent of all subjects could be correctly classified by BADs (sensitivity 84%, specificity 88.5%). CONCLUSIONS: Enlarged BADs were able to detect FD within a cohort of FD, strokepatients and healthy controls. BAD measurement could be an easily obtainable and sensitive screening tool for FD in young strokepatients.
Authors: S Cocozza; C Russo; A Pisani; G Olivo; E Riccio; A Cervo; G Pontillo; S Feriozzi; M Veroux; Y Battaglia; D Concolino; F Pieruzzi; R Mignani; P Borrelli; M Imbriaco; A Brunetti; E Tedeschi; G Palma Journal: AJNR Am J Neuroradiol Date: 2017-10-19 Impact factor: 3.825
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Authors: Idalina Beirão; Ana Cabrita; Márcia Torres; Fernando Silva; Patrício Aguiar; Francisco Laranjeira; Ana Marta Gomes Journal: Diseases Date: 2017-06-11
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