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Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single-Centre Cohort
David Moreno-Martinez1, Sara Lucas-Del-Pozo2,3, Lucia Lavalle1
1Lysosomal Storage Disorders Unit, Royal Free Hospital NHS Foundation Trust and University College London, London, UK.
Insights
Stroke risk factors in Fabry disease (FD) were identified. Autoimmune disease increased stroke risk, while higher kidney function and N215S genotype decreased it, aiding patient stratification.
Area of Science:
- Neurology
- Genetics
- Nephrology
Background:
- Fabry disease (FD) is a rare genetic disorder with unknown stroke risk factors.
- Accurate identification of stroke predictors is crucial for patient management.
Purpose of the Study:
- To determine stroke risk factors in Fabry disease patients.
- To develop a predictive model for stroke in this population.
Main Methods:
- Retrospective cohort analysis of 368 adult patients with FD.
- Survival analysis to determine time to stroke.
- Multivariate Cox regression to identify independent risk factors.
Main Results:
- Autoimmune disease was associated with increased stroke risk.
- Glomerular filtration rate >90 and N215S genotype were associated with decreased stroke risk.
- Stroke types included lacunar, anterior/posterior circulation, and venous thrombosis.
Conclusions:
- Sex was not a significant predictor of stroke, though males experienced more severe disease.
- Findings aid in stratifying Fabry disease patients for stroke risk.
- Results are relevant for metabolic and general stroke physicians.
Objectives:
Risk factors for stroke in Fabry disease (FD) are not precisely known. This study presents a retrospective cohort analysis from one reference centre in the United Kingdom to determine risk factors for stroke and to develop a predictive model.
Methods:
Patients > 18 years old were included in the study and were followed from their first visit until March 2019. The main outcome of the survival analysis was time to stroke. The independent risk factors were evaluated using a multivariate Cox regression.
Results:
Of 414 patients, 368 were included in the survival analysis. 227 (61.7%) were female, with a median baseline age of 42.7 (IQR 27.8-54.8) for males and 39.9 (26.6-51.2) years for females. 56 (39.7%) males and 64 (28.2%) females had the N215S genotype. 41 patients had a stroke at baseline (11.2%), rising to 69 (18.8%) at the end-66.7% lacunar, 18.9% anterior circulation, 13% posterior circulation and 1.4% venous thrombosis. Median follow-up was 10.4 years. Median time to stroke in males and females was 43 (43-43) and 58 (58-59) years, respectively. In the multivariate analysis, a concomitant autoimmune disease was associated with an increased risk of stroke, while glomerular filtration rate > 90 and N215S genotype were associated with a decreased risk.
Interpretation:
Sex was not associated with stroke, despite males being more severe. These results might help stratify patients and are of interest not only to metabolic physicians, but to general stroke physicians too.
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