Abstract Details

Title Determinants of White Matter Hyperintensity Burden in Patients with Fabry Disease

Topic Cerebrovascular Disease and Interventional Neurology

Presentation(s) P03 - (-)

Poster/Presentation
Number 171

Objective

Background BACKGROUND: Identifying markers of CNS involvement in FD is important to characterize early signs of disease, document progression, and evaluate response to therapy. One of these markers, WMHV has been associated with stroke and poor outcome in the general population but has not been studied systematically in FD.

Design/Methods DESIGN/METHODS: FD patients with one or more MRI scans were recruited through a multi-center observational study. Using semi-automated validated volumetric protocol, WMHV was calculated from T2 FLAIR axial images. Linear regression models were used to determine clinical FD characteristics associated with log-transformed WMHV.

Results RESULTS: Of 77 subjects (mean age 37.2 ± 15.7 year; 50.6% female), 59 (77%) had received enzyme replacement therapy (ERT), 65 (84%) were adults (age ?21). Mean WMHV was 3.9±5.9 cc (median 2.1 cc, IQR 1.4-3.5). In a multivariate model, including age, history of cardiomyopathy (CMP), proteinuria, cardiac arrhythmia, cardiac failure, migraine, and alcohol use (all p<0.2 in univariate analyses), only CMP was independent predictor of WMHV (?=0.83, p=0.03). In subset analyses, hypertension (?=0.6, p=0.04) and TIA (?=2.2, p=0.003) independently predicted WMHV in women, while CMP did in adults only (?=0.9, p=0.005). In children, age and pain in hands/feet were associated with WMHV in univariate analysis but did not emerge as its independent predictors.

Conclusions CONCLUSIONS: In FD subjects, the severity of cerebrovascular disease manifested by MRI-detectable WMH is greater than that of general population. WMH burden is associated with CMP in this cohort independently of age, and it may be affected by different disease processes in men and women and at different disease stages. Further studies exploring associations between WMHV, ERT, age- and gender-specific characteristics, as well as longitudinal WMH progression are warranted.

Authors/Disclosures
Natalia S. Rost, MD, MPH, FAAN, FAHA (Massachusetts General Hospital) PRESENTER	Dr. Rost has received personal compensation in the range of $100,000-$499,999 for serving as an officer or member of the Board of Directors for ��ɫ��. Dr. Rost has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Stroke - AHA/ASA Journal. The institution of Dr. Rost has received research support from NIH. Dr. Rost has received publishing royalties from a publication relating to health care.
	No disclosure on file
	No disclosure on file
	No disclosure on file
Alasdair Coles, MD, PhD (University of Cambridge)	Dr. Coles has nothing to disclose.
	No disclosure on file
Juan Politei	No disclosure on file
	No disclosure on file

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