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Related Experiment Video

Updated: Jun 7, 2026

An Immunohistopathologic Study to Profile the Folate Receptor Beta Macrophage and Vascular Immune Microenvironment in Giant Cell Arteritis

Published on: February 8, 2019

Fabry disease exhibiting recurrent stroke and persistent inflammation.

Yoko Kikumoto¹, Yasufumi Kai, Hiroshi Morinaga

¹Department of Medicine and Clinical Science, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences.

Internal Medicine (Tokyo, Japan)

|October 22, 2010

Summary

This study highlights recurrent strokes in Fabry disease patients despite enzyme replacement therapy, suggesting a link between inflammation, eye issues, and stroke. Fabry disease may be a factor in young stroke patients with unexplained fevers.

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Area of Science:

Neurology
Genetics
Internal Medicine

Background:

Fabry disease is a rare genetic disorder.
Enzyme replacement therapy (ERT) is a standard treatment.
Stroke is a known complication of Fabry disease.

Observation:

Two non-blood-related Japanese men with Fabry disease experienced recurrent strokes.
Both patients had chronic inflammation and ocular involvement before stroke.
Elevated C-reactive protein levels were noted prior to stroke onset.

Findings:

Recurrent strokes occurred despite ongoing enzyme replacement therapy.
Inflammatory signs and laboratory data did not improve with ERT.
A potential association between persistent inflammation, ocular signs, and recurrent stroke in Fabry disease was observed.

Implications:

Fabry disease should be considered in young patients presenting with cryptogenic stroke.
Consider Fabry disease in cases of central nervous system manifestations and fever of unknown origin.
Further research is needed to understand the role of inflammation in Fabry disease-related stroke.