Related Experiment Video
Updated: Oct 14, 2025
A Standardized Pipeline for Examining Human Cerebellar Grey Matter Morphometry using Structural Magnetic Resonance Imaging
Published on: February 4, 2022
Prevalence of cerebral small vessel disease in a Fabry disease cohort
Daisy Tapia1, David Floriolli2, Eric Han3
1Division of Genetic and Genomic Medicine, Department of Pediatrics, University of California Irvine Medical Center, CA, USA.
Insights
Cerebral small vessel disease (SVD) is common in Fabry disease (FD) patients over 50. Routine MRI screening is crucial for identifying high-risk individuals with FD to enable early treatment.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Fabry disease (FD) is an X-linked lysosomal storage disorder affecting the central nervous system.
- Limited data exist on cerebrovascular neuroimaging in FD, with variable reported prevalence of stroke and small vessel disease (SVD).
Purpose of the Study:
- To determine the prevalence of brain ischemia and cerebral small vessel disease (SVD) in a cohort of patients with Fabry disease (FD).
- To assess the relationship between SVD and stroke symptoms in FD patients.
Main Methods:
- Brain MRI was conducted on 21 FD patients.
- Stroke symptoms were evaluated.
- Cerebral microvascular disease was quantified using a small vessel disease (SVD) score, including lacunes, white matter hyperintensities, and microbleeds.
Main Results:
- 43% of the FD cohort (9/21) had an SVD score of one or higher, predominantly those aged 50 and above.
- White matter hyperintensities were the most common MRI finding (100%), followed by microbleeds (66%) and lacunes (33%).
- Patients with prior strokes exhibited higher SVD scores (3-5).
Conclusions:
- The prevalence of SVD (43%) in this FD cohort was three times higher than stroke symptom prevalence.
- Higher SVD scores correlated with a history of stroke.
- Routine MRI screening is recommended for FD patients to identify and manage individuals at high risk for cerebrovascular events.
Objective:
To characterize the prevalence of brain ischemia and cerebral small vessel disease in a cohort of patients with Fabry disease (FD) seen at an academic medical center.
Background:
FD is an inherited X-linked lysosomal storage disorder with central nervous system involvement. Limited data are available in the literature on the cerebrovascular neuroimaging findings in FD, and the reported prevalence of stroke symptoms and cerebral small vessel disease has varied widely.
Design/Methods:
Brain MRI was performed in 21 patients with FD followed at University of California Irvine Medical Center. Stroke symptoms were assessed and quantification of cerebral microvascular disease was performed using small vessel disease (SVD) score. Lacunes and deep white matter hyperintensities were scored on a four-point scale of 0 (absent) and 1-3 to account for increasing severity; microbleeds were scored 0 (absent) or 1 (present). The total SVD score is the sum of the three components and ranges from 0 to 7.
Results:
Nearly 43% (9/21) of our FD cohort (aged 32-81 years, mean = 50) had a SVD score of one or higher, all of whom were aged 50 or more years. The most common MRI-defined SVD was white matter hyperintensities (9/9, 100%), followed by microbleeds (6/9, 66%), and lacunes (3/9, 33%). The three patients with previous strokes had some of the highest SVD scores reported in the cohort (scores 3-5).
Conclusions:
In this cohort, the prevalence of SVD (43%) was three times higher than prevalence of stroke symptoms. SVD score was highest in the those who had experienced a stroke. These findings emphasize the importance of routine MRI screening of patients with FD in order to identify and treat high risk patients.
Related Concept Videos
01:27Atherosclerosis II: Clinical Manifestations and Diagnostic Tests
01:21Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
01:11Fibril-associated Collagen
For example, the type II collagen fibrils in cartilage have covalently bound type IX fibril-associated collagens at regular intervals. Other types of fibril-associated collagens are...
01:21Aneurysm II: Clinical Manifestations and Diagnostic Studies
01:30Peripheral Artery Disease I: Introduction
03:03Amyloid Fibrils