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Fabry disease in unselected patients with TIA or stroke: population-based study
L Marquardt1, R Baker, H Segal
1Stroke Prevention Research Unit, University of Oxford, Oxford, UK. lars.marquardt@uk-erlangen.de
European Journal of Neurology
|April 28, 2012
Summary
Fabry disease (FD) is rare in unselected UK stroke patients. Further research is needed to determine if routine screening is justified in younger individuals with cryptogenic stroke.
Area of Science:
- Neurology
- Genetics
- Rare Diseases
Background:
- Fabry disease (FD) is an X-linked lysosomal storage disorder linked to cerebrovascular issues.
- Previous studies suggest a prevalence of up to 4% in young cryptogenic stroke patients.
- Population-based data on FD in unselected TIA or stroke patients across all ages is lacking.
Purpose of the Study:
- To determine the prevalence of Fabry disease mutations in a population-based cohort of acute TIA or ischemic stroke patients.
- To investigate the frequency of FD in unselected patients across a wide age range.
Main Methods:
- Analysis of 1046 consecutive patients from the Oxford Vascular Study (stroke and TIA).
- Genetic testing involved alpha-galactosidase A gene amplification via PCR, dHPLC, and sequencing.
- Mutation Surveyor software was used for sequence analysis.
Main Results:
- No patients had a known FD-causing mutation; the overall upper 95% confidence interval for FD prevalence was 0.35%.
- In patients under 60 years (n=154), the upper 95% CI was 2.37%.
- Five samples (0.48%) showed gene variations associated with reduced enzyme activity but not full FD.
Conclusions:
- Fabry disease is uncommon in the studied unselected UK TIA/stroke population.
- Larger studies focusing on younger patients with cryptogenic stroke are necessary.
- The justification for routine FD screening in specific patient groups requires further investigation.
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