Related Experiment Video
Updated: Oct 9, 2025
Echocardiographic Evaluation of Atrial Communications before Transcatheter Closure
Published on: February 8, 2022
Prevalence of Fabry Disease in Patients With Cryptogenic Strokes: A Systematic Review
Juan Fernando Ortiz1, Jashank Parwani2, Paul W Millhouse3
1Neurology, Larkin Community Hospital, Miami, USA.
Insights
Fabry disease (FD) is an X-linked genetic disorder. Screening for FD in cryptogenic stroke patients is not cost-effective, but may benefit those with recurrent strokes.
Area of Science:
- Genetics
- Neurology
- Rare Diseases
Background:
- Fabry disease (FD) is an X-linked, multi-organ genetic disorder.
- Stroke is a frequent and severe complication of FD, particularly cryptogenic stroke in younger individuals.
- The cause of cryptogenic stroke is often unclear, complicating diagnosis.
Purpose of the Study:
- To determine the pooled prevalence of FD in patients presenting with cryptogenic stroke.
- To assess FD as a potential underlying cause of stroke, especially in young patients.
- To evaluate the diagnostic yield of FD screening in stroke populations.
Main Methods:
- Systematic review of English-language human studies published within the last 20 years.
- Inclusion of studies on cryptogenic stroke patients and FD patients with stroke as a presenting condition.
- Pooled prevalence analysis of FD in the selected stroke cohorts.
Main Results:
- FD is more prevalent in male patients and presents earlier in life.
- Hemorrhagic and ischemic stroke frequencies in FD patients resemble the general population.
- High stroke recurrence rates were observed, even with enzyme replacement therapy.
Conclusions:
- Screening for FD in all cryptogenic stroke patients is generally not recommended due to low yield and cost-effectiveness.
- Targeted FD screening may be beneficial for patients experiencing recurrent strokes.
- Further research into FD's role in specific stroke subtypes could refine screening strategies.
Abstract:
Fabry disease (FD) is an X-linked disorder involving multiple organs. Stroke is a serious and frequent complication of FD. Cryptogenic stroke is a common presentation of FD, especially in the young population. The etiology of cryptogenic stroke is highly variable and difficult to assess, frequently leaving patients without a primary diagnosis. We conducted a systematic review to investigate the pooled prevalence of FD among patients with cryptogenic stroke, or patients with FD in whom a stroke was the presenting condition. English-language studies involving humans published in the last 20 years were included in this systematic review. FD was more common in male patients and tended to present at an earlier age. The frequency of hemorrhagic and ischemic strokes in this population was similar to that in the general population. There was a high rate of stroke recurrence in the study sample, even among patients undergoing enzyme replacement therapy. We conclude that screening for FD in patients with cryptogenic stroke is low yield and not cost-effective. However, it may be worthwhile to screen for FD among patients with recurrent strokes.
Related Concept Videos
01:27Atherosclerosis II: Clinical Manifestations and Diagnostic Tests
01:17Ischemic Heart Disease: Overview
Atherosclerosis, the primary malefactor, orchestrates this dangerous condition. It manifests as the accumulation of fatty deposits, akin to insidious plaques, within arterial walls. As time elapses, these plaques metamorphose, hardening and...
01:26Atherosclerosis III: Management
01:21Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
01:21Aneurysm II: Clinical Manifestations and Diagnostic Studies
01:20Venous Thrombosis II: Clinical Manifestations and Diagnostic Studies