What causes telangiectases and AVM bleeding in Osler-Weber-Rendu disease (OWRD) (hereditary hemorrhagic telangiectasia [HHT])?

Updated: Oct 06, 2020
  • Author: Klaus-Dieter Lessnau, MD, FCCP; Chief Editor: Vincent Lopez Rowe, MD  more...
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Telangiectases and AVM bleeding tendency are attributed to localized vessel wall weakness, in part due to abnormal remodeling resulting from an imbalance in functions related to TGF-β. [11] Interactions with TGF-β signaling result in disorganized cytoskeletal structure and poor vascular tubule formation. The gene expression profiles of the vascular endothelial cells grown from HHT patients reveals dysregulation of genes involved with the following [18] :

  • Angiogenesis
  • Cytoskeletal integrity
  • Cell migration
  • Proliferation
  • Nitric oxide synthesis

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