Circulating P-, L- and E-selectins in pseudoxanthoma elasticum patients

Objectives Pseudoxanthoma elasticum (PXE) is a hereditary disorder predominantly affecting the skin, retina and vascular system. The aim of this study was to measure cell adhesion molecules in PXE patients. Design and methods Soluble P-, E- and L-selectins were measured in 61 non-consanguineous PXE patients. The distribution of the variants E-selectin S128R and P-selectin T715R were determined. Results P-selectin concentrations were significantly increased in male and female PXE patients. Furthermore, P-selectin levels correlated with the ABCC6 gene status of the PXE patients. Patients harboring two mutant ABCC6 alleles had 1.5-fold increased P-selectin concentrations in comparison to patients with at least one wild-type allele. E- and L-selectin levels were within normal range and the allelic frequencies of the investigated polymorphisms did not differ between patients and age- and sex-matched controls. Conclusions Our data show elevated P-selectin levels in PXE patients potentially due to oxidative stress and elevated protease activity in PXE.