Pseudoxanthoma elasticum: case report with arterial stiffness evaluated by a research cardiovascular profiling system

Pseudoxanthoma elasticum (PXE) is an inherited systemic disorder characterized by calcification of elastic tissue, affecting the skin, the eyes and vascular system. The aim of our study was to specify the cardiovascular changes in a case of pseudoxanthoma elasticum by a non-invasive haemodynamic evaluation. We present a 50-year-old woman with a clinical diagnosis of pseudoxanthoma elasticum. Except for hypertension, treated over the past four years, there was no other modifiable cardiovascular risk factor. The patient had a familiar history of early cardiovascular death. In the physical examination, typical skin lesions were present and also an angioid streak of the retina. The patient and a control group were evaluated by the CR-2000 Research Cardiovascular Profiling System. A lower elasticity in large arteries (p = 0.006), a higher cardiac output (p = 0.006) and a higher total vascular impedance (p = 0.006) were observed with respect to the control group. There was no difference comparing this value with an elderly control group. We suggest that patients with PXE present vascular changes comparable with elderly patients and that these differences can not be explained by hypertension.