Cureus · 5 authors, 4 centres
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Pseudoexfoliation syndrome (PEX) is an age-related systemic condition involving fibrillary deposits in ocular and extraocular tissues, linked to elevated homocysteine and LOXL-1 gene mutations. It significantly increases risks for cardiovascular and cerebrovascular diseases, including hypertension, myocardial infarction, and stroke. Clinicians should consider systemic vascular screening in PEX patients to manage associated cardiovascular risks.
**Background** Pseudoexfoliation syndrome (PEX) is an age-related extracellular matrix disorder characterized by the accumulation of abnormal fibrillary pseudoexfoliative material (PXM) in various body tissues, most commonly in the anterior segment of the eye. It typically affects individuals over 50 years of age and can be bilateral or asymmetrical. PEX is associated with elevated intraocular pressure, glaucoma, cataracts, and systemic conditions such as myocardial infarction, cerebrovascular accidents, and systemic hypertension. The pathogenesis involves genetic factors, particularly mutations in the LOXL-1 gene, and non-genetic factors like oxidative stress, inflammation, and hypoxia. This narrative review aims to summarize the cardiovascular manifestations of PEX, including its association with vascular disease, homocysteine levels, and potential mechanisms.
**Methods** The authors conducted a thorough literature search using PubMed and Google Scholar with keywords including "glaucoma," "pseudoexfoliative material," "manifestations," "cerebrovascular disease," "homocysteine," "cardiovascular disease," and "LOXL-1 gene." Inclusion criteria encompassed studies focusing on cardiovascular manifestations of PEX, its pathogenesis, cerebrovascular manifestations, homocysteine, and the LOXL-1 gene. Both original research and review papers written in English were included. Manual searches of reference lists were also performed. Articles with missing or inaccessible full texts were excluded.
**Key Results** - PEX was significantly associated with hypertension, angina, and a combined history of angina, myocardial infarction, or stroke after multivariate adjustment for age, gender, and glaucoma status. - A study by Citirik et al. on 50 patients with coronary artery disease (CAD) diagnosed by coronary angiography and 50 controls found a significant association between PEX and CAD (P=0.001). - Arrhythmia was observed to be more prevalent in PEX patients. - Patients with PEX and glaucoma had a significantly higher prevalence of white matter hyperintensities (ischemic alterations) on MRI compared to controls. - Middle cerebral artery blood flow velocities and regional brain blood flow were lower in PEX and PEX glaucoma patients. - PEX patients had higher plasma homocysteine levels, which are linked to vascular damage, endothelial dysfunction, and increased risk of venous thrombosis, CAD, and stroke. - Visontai et al. reported increased stiffness and decreased distensibility in the common carotid artery, along with disturbed parasympathetic vascular control associated with higher homocysteine levels in PEX/PEX glaucoma patients. - PEX patients showed thicker carotid intima-media and lower cardiac peak systolic tissue Doppler imaging velocities compared to controls. - Elevated levels of cardiovascular risk factors such as homocysteine, apolipoprotein A, and lipoprotein (a) were found in PEX patients, along with reduced brachial artery dilatation and increased carotid intima-media thickness. - PEX participants had significantly lower ankle brachial indices than controls, suggesting a risk for peripheral vascular disease. - The prevalence of bilateral PEX was approximately 1.6 times greater than unilateral PEX, increasing from 52% in the seventh decade to 77% in patients over 80 years old. - In a cross-sectional study by Andrikopoulos et al. (2003) in Greece, 50 (53.8%) of 371 participants had bilateral PEX, and 93 (25.1%) had glaucoma. Among 225 patients with unilateral PEX, 17.3% (39) had open-angle glaucoma (OAG), 23.1% (9) had bilateral glaucoma, and only two had glaucoma in the unaffected eye. - PEX was linked to abdominal aortic aneurysms, with histopathological analysis showing tunica intima elastosis and fibrosis and PXM buildup in the adventitial and subendothelial layers.
**Clinical Implications** PEX is not merely an ocular condition but a systemic disorder with significant cardiovascular and cerebrovascular implications. The accumulation of PXM in blood vessels contributes to increased vascular resistance, reduced blood flow, arterial dysregulation, and endothelial dysfunction. Elevated homocysteine levels in PEX patients further exacerbate vascular risk. Clinicians should consider screening PEX patients for cardiovascular risk factors, including homocysteine levels, and monitor for hypertension, CAD, stroke, and peripheral vascular disease. The association with abdominal aortic aneurysms and impaired baroreflex sensitivity underscores the need for comprehensive vascular assessment. Early detection and management of systemic manifestations may improve outcomes in PEX patients.