A Systematic Review of Neurovascular Complications in Patients with Pseudoxanthoma Elasticum

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Colin Domzalski
Nancy Wei
Mark Lebwohl


pseudoxanthoma elasticum, pxe, neurovascular, tia, cva, stroke


Background: Pseudoxanthoma elasticum (PXE) is a rare, hereditary connective tissue disorder characterized by ectopic calcification of multiple organ systems. Cardiovascular complications secondary to accelerated atherosclerosis are well-documented in published literature; however, there is a paucity of studies that reviews serious neurovascular complications including CVA(cerebral vascular accident), TIA(Transient ischemic attack), and intracranial aneurysm development in PXE patients.  

Objective: We aim to review current literature reporting cases of serious ischemic and hemorrhagic neurovascular complications in PXE patients as of September 2020 and reexamine current guidelines on anticoagulation and antiplatelet therapy in PXE patients

Methods: A search of the PubMed database limited to English language case reports using the key words “pseudoxanthoma elasticum”, “neuro*”, “cerebr*”, “CVA”, “TIA”, and “aneurysm” was performed.

Results: A total of 67 cases of cerebral disease were reported; ranging from ages 2-71 years from 12 countries. The most common neurovascular complication seen was ischemic strokes (68.7%) followed by TIAs (20.8%), intracranial aneurysms (6.0%) and lastly hemorrhagic strokes (4.5%).

Conclusions: PXE patients have a greater incidence of ischemic strokes compared to the general population. Clinicians should thus carefully weigh the benefits of anticoagulation therapy in patients with known cardiovascular disease against the risk of bleeding.


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