Cardiovascular Manifestations of Pseudoxanthoma Elasticum

Abstract

Pseudoxanthoma elasticum (PXE) is a rare systemic disorder of elastic fibers. The most common manifestations include characteristic papules and ocular angioid streaks. Cardiovascular complications include peripheral arterial disease, hypertension, premature coronary artery disease, and cerebrovascular disease. These associations are secondary to dystrophic elastic fibers, resulting in the calcification of small- to medium-sized arteries. We present the case of a 22-year-old otherwise healthy female patient diagnosed with PXE following a biopsy of a neck lesion. Ophthalmologic evaluation revealed characteristic angioid streaks. The patient also reported early satiety and leg cramping, which prompted referral to gastroenterology and cardiology. Further investigation raised concern for median arcuate ligament syndrome (MALS), though the association with her PXE diagnosis remains unclear. This case highlights the importance of systematic evaluation, screening, and multidisciplinary management of cardiovascular manifestations in PXE.

Keywords: angioid streaks; cardiovascular disease; median arcuate ligament syndrome; multidisciplinary care; peripheral arterial diseases; pseudoxanthoma elasticum; vascular calcification.

Figure 1. Cutaneous manifestations of pseudoxanthoma elasticum (PXE)

Hyperpigmented, yellow-brown plaque along the left neck in a patient with PXE. The lesion demonstrates characteristic skin changes due to elastic fiber degeneration, commonly seen in PXE, which can also present with systemic vascular and ocular involvement.

Figure 2. CT angiographic findings in median arcuate ligament syndrome (MALS)

Sagittal view of a CT angiogram of the abdomen demonstrating the characteristic morphology of the celiac trunk in MALS. The superior compression of the celiac artery by the MAL results in narrowing and a hooked appearance of the vessel.