Vascular Effects of Pseudoxanthoma Elasticum

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.

Rete mirabile of the ICA: Report of three cases

Carotid rete mirabile is an arterial meshwork, occurring at the cavernous portion of the internal carotid artery (ICA). Rete mirabile in humans is not present during normal development of the intracranial circulation and hence is considered as a collateral pathway that develops as a consequence of segmental agenesis of the ICA. We report three cases of this rare entity encountered at our institute.

Carotid rete mirabile associated with subarachnoid hemorrhage from intracranial aneurysm: A case report and systematic review

Carotid rete mirabile (CRM) is a rare physiological vascular network in humans that is most often found in Eastern populations. This paper describes a CRM associated with an aneurysmal subarachnoid hemorrhage (aSAH) and discusses the details of the patient’s treatment. A 28-year-old woman was admitted to our service with clinical signs and symptoms of a spontaneous aSAH. Computed tomography revealed a diffuse and extensive SAH (Fisher group IV), while an angiogram showed an abnormal collateral network in the right carotid system and a hypoplastic aspect to the internal carotid artery (ICA) on the same side. In addition, a saccular aneurysm with a diameter of 9.5 mm was present in the ophthalmic segment of the left ICA. This case is extremely uncommon. To avoid rebleeding in the patient, we successfully treated the patient by clipping the aneurysmal lesion. No procedure was performed for the CRM.