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Multiple Cerebrovascular Insults in Pseudoxanthoma Elasticum
1Department of Neurology, University of Virginia Health System, P.O. Box 800394, Charlottesville, VA 22908, United States.
Summary
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder causing stroke. This case highlights careful use of aspirin for secondary stroke prevention in a PXE patient with high ischemic risk.
Area of Science:
- Neurology
- Genetics
- Vascular Medicine
Background:
- Pseudoxanthoma elasticum (PXE) is a rare systemic genetic disorder.
- PXE is an uncommon cause of ischemic and hemorrhagic strokes.
- Variable presentation can delay diagnosis of PXE and associated conditions.
Observation:
- A patient with PXE diagnosed in her 20s presented with a hemorrhagic stroke in her 50s.
- Workup revealed silent ischemic cerebral infarcts, carotid artery stenosis, and intracranial vasculopathy.
- Vascular risk factors were present but well-controlled.
Findings:
- Antiplatelet therapy is traditionally avoided in PXE due to hemorrhage risk.
- Aspirin was initiated for secondary stroke prevention due to high ischemic stroke risk and no history of GI/retinal bleed.
- Judicious use of antiplatelet therapy may be safe in select PXE patients.
Implications:
- Early recognition and management of PXE manifestations are crucial.
- Careful consideration of antiplatelet therapy for secondary stroke prevention in PXE is warranted.
- Proactive surveillance and management preserve function and quality of life in PXE patients.
