Vascular Effects of Pseudoxanthoma Elasticum

Main Article Content

Erika Hubbard
Mark Lebwohl

Keywords

Pseudoxanthoma elasticum, Vascular, peripheral vascular disease, carotid rete mirabile, ABCC6

Abstract

Background: Pseudoxanthoma elasticum (PXE) is a rare hereditary disease caused by mutations in the ABCC6 gene, characterized by ectopic calcification of connective tissue throughout the body. Vascular conditions associated with PXE have been well-documented in the literature, but to our knowledge, analysis of the myriad of PXE case reports with associated vascular diseases in addition to larger cohort studies, has not been undertaken.


Objective: To review existing literature reporting peripheral vascular disease (PVD), cardiovascular disease (CVD), cerebrovascular disease (CeVD), hypertension, and carotid rete mirabile (CRM) in PXE patients as of June 2021.


Methods: A search of the PubMed database using the key words “pseudoxanthoma elasticum” and “vascular” was performed.


Results: A total of 345 cases of PVD, 97 cases of CVD, and 123 case of CeVD were reported.  Additionally, 88 cases of hypertension and 5 cases of CRM were reported.


Conclusions: PXE patients are at risk of developing serious vascular conditions, particularly peripheral vascular disease.  This condition also appears to have some connection to carotid rete mirabile, which is extremely rare in humans.  Further research should be conducted to analyze the connection between PXE and CRM in order to better understand and treat both conditions.

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