Profile of endothelial and leukocyte activation in Fabry patients

Ann Neurol. 2000 Feb;47(2):229-33.

Abstract

Fabry disease is an X-linked recessive disorder resulting in the deposition of globotriaosylceramide in numerous cell types including vascular endothelial cells. Because this disease is associated with vascular injury and a high recurrence rate of thrombotic events, measurements of factors regulating endothelium and leukocyte interaction may provide insight into the mechanisms leading to a prothrombotic state. Twenty-five patients with Fabry disease and 25 control subjects participated in the study. Plasma from all 25 Fabry patients and 15 of the 25 controls were studied for multiple endothelial factors. Leukocyte integrins were measured by flow cytometry in 21 Fabry patients and 10 controls. The concentrations of soluble intercellular adhesion molecule-1, vascular cell adhesion molecule-1, P-selectin, and plasminogen activator inhibitor were significantly higher and thrombomodulin was significantly lower in Fabry patients. Expression of the integrin CD11b on monocytes was also significantly higher in the Fabry patients. This study reveals measurable evidence for endothelium and leukocyte activation that is consistent with a prothrombotic state in Fabry patients compared with controls. Further investigations of these findings may help to understand the mechanism of stroke in Fabry disease and provide indicators (or markers) of efficacy of future therapeutic intervention.

MeSH terms

  • Adult
  • Endothelium, Vascular / physiopathology*
  • Fabry Disease / blood
  • Fabry Disease / physiopathology*
  • Humans
  • Integrins / blood
  • Intercellular Adhesion Molecule-1 / blood
  • Leukocytes / metabolism
  • Leukocytes / physiology*
  • Middle Aged
  • P-Selectin / blood
  • Reference Values
  • Thrombomodulin / blood
  • Vascular Cell Adhesion Molecule-1 / blood

Substances

  • Integrins
  • P-Selectin
  • Thrombomodulin
  • Vascular Cell Adhesion Molecule-1
  • Intercellular Adhesion Molecule-1