# Stroke in Fabry Disease: Identification of Risk Factors for Stroke in a Large Single‐Centre Cohort

## TL;DR

This study identifies risk factors for stroke in Fabry disease patients, finding that autoimmune disease increases risk while good kidney function and a specific gene variant lower it.

## Contribution

The study provides a predictive model for stroke risk in Fabry disease based on clinical and genetic factors.

## Key findings

- Autoimmune disease is associated with increased stroke risk in Fabry disease patients.
- Glomerular filtration rate > 90 mL/min and N215S genotype are linked to lower stroke risk.
- A nomogram was developed for individual stroke risk prediction.

## Abstract

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.

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.

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.

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.

A retrospective cohort study of 368 adults with Fabry disease in the UK analysed time to stroke over approximately 10 years. It found that concomitant autoimmune disease increased stroke risk, while eGFR > 90 mL/min and the p.N215S genotype were associated with lower risk. A nomogram was created for individual risk prediction based on these findings.