Dysregulated Hemostasis and Immunothrombosis in Cerebral Cavernous Malformations

Int J Mol Sci. 2022 Oct 20;23(20):12575. doi: 10.3390/ijms232012575.

Abstract

Cerebral cavernous malformation (CCM) is a neurovascular disease that affects 0.5% of the general population. For a long time, CCM research focused on genetic mutations, endothelial junctions and proliferation, but recently, transcriptome and proteome studies have revealed that the hemostatic system and neuroinflammation play a crucial role in the development and severity of cavernomas, with some of these publications coming from our group. The aim of this review is to give an overview of the latest molecular insights into the interaction between CCM-deficient endothelial cells with blood components and the neurovascular unit. Specifically, we underscore how endothelial dysfunction can result in dysregulated hemostasis, bleeding, hypoxia and neurological symptoms. We conducted a thorough review of the literature and found a field that is increasingly poised to regard CCM as a hemostatic disease, which may have implications for therapy.

Keywords: BBB; CCM; NETosis; bleeding; coagulation; endothelium; hemostasis; hypoxia; immunothrombosis; neuroinflammation.

Publication types

  • Review

MeSH terms

  • Endothelial Cells
  • Hemangioma, Cavernous, Central Nervous System* / genetics
  • Hemostasis
  • Hemostatics*
  • Humans
  • Proteome
  • Thromboinflammation

Substances

  • Proteome
  • Hemostatics