Vascular System & PXE

Download PDF "Vascular System and PXE"

Pseudoxanthoma elasticum (PXE) is a heterogeneous inherited disorder of connective tissue, the hallmark of which is dystrophic calcification of elastic tissue of the skin, retina, and arteries. Because of the varied clinical manifestations involving several body systems, each specialty should be aware of the ramifications of PXE for the various body systems.

PXE is a rare disease. Its incidence has been estimated at 1/25,000-50,000. However, the true incidence is unknown, as it is likely that some patients are so mildly involved that they escape diagnosis and some have atypical presentations.

PXE affects the skin and eyes primarily.

Vascular Disease

The basic vascular pathology in PXE is dystrophic calcification of the elastic tissue of the media. Subsequent intimal elastic calcification and atherosclerosis and intimal fibrous proliferation leading to vascular occlusion or fragility may occur. The most common manifestations of arterial disease in PXE are diminished peripheral pulses and intermittent claudication. Angina and symptoms of intestinal ischemia may occur relatively early in life.

Hypertension may be more common among individuals affected with PXE. If present, this increases the risk of vascular complications in the individuals affected by PXE, and needs to be well controlled. GI bleeding, usually gastric, may be an early manifestation and even the presenting sign of PXE. The mechanism is unknown, but gastroscopy shows gastric mucosal changes resembling mucosal PXE elsewhere (yellowish papules), and the histology of the gastric vessels resembles that of other arteries affected by PXE.