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Intracranial atherosclerosis in pseudoxanthoma elasticum: A case-control study
Carlo Lucci1, Tim C van den Beukel1, Jonas W Bartstra1
1Department of Radiology, University Medical Center Utrecht and Utrecht University, Utrecht, the Netherlands.
Atherosclerosis
|April 25, 2022
Summary
Pseudoxanthoma elasticum (PXE) does not increase intracranial atherosclerosis. This suggests other mechanisms, not accelerated atherogenesis, cause the higher stroke risk in PXE patients.
Area of Science:
- Genetics and rare diseases
- Cardiovascular research
- Neurology
Background:
- Pseudoxanthoma elasticum (PXE) is a genetic disorder causing systemic calcification.
- PXE patients have an elevated risk of stroke.
- Accelerated intracranial atherogenesis was hypothesized as the cause of stroke risk in PXE.
Purpose of the Study:
- To compare intracranial atherosclerosis burden in PXE patients versus healthy controls.
- To investigate if PXE mutations accelerate intracranial atherogenesis.
Main Methods:
- Fifty PXE patients and 40 controls underwent 3T MRI.
- Vessel wall lesions (VWLs) in intracranial arteries were quantified.
- Logistic and negative binomial regression models analyzed VWL presence and count.
Main Results:
- VWL presence was similar: 68% in PXE patients vs. 70% in controls.
- Total VWL burden was comparable between PXE patients (68) and controls (73).
- Stratified analyses by artery also showed similar findings.
Conclusions:
- Intracranial atherosclerosis distribution and burden are similar in PXE patients and controls.
- PXE does not appear to involve accelerated intracranial atherogenesis.
- Vascular calcification or other mechanisms likely explain the increased stroke risk in PXE.
