Get two with one: bevacizumab treatment in hereditary hemorrhagic telangiectasia with concomitant cirrhosis

Abstract

Hereditary hemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu syndrome is a birth defect of the blood vessels that causes telangiectasias and arteriovenous malformations. HHT is a rare, autosomal dominant vascular disorder affecting approximately 1 in 8000 people. This multisystem angiogenic disorder is genetically and phenotypically variable, with the most common symptom being severe and recurrent epistaxis. ALK1, TGF-ß, and VEGF are involved in its pathogenesis. VEGF increases mitotic activity in vascular endothelial cells, leading to uncontrolled angiogenesis and the formation of fragile vessels. Bevacizumab is used in the treatment of HHT by inhibiting VEGF. We present our patient, who developed hepatic encephalopathy due to hemorrhages with diffuse telangiectasias of the skin and tongue due to HHT and achieved an effective response to both conditions with bevacizumab.