[Bevacizumab: a new success in hereditary hemorrhagic telangiectasia]

Hereditary hemorrhagic telangiectasia (HHT), is a rare, hereditary vascular dysplasia, characterized by recurrent epistaxis, mucocutaneous telangiectasias and visceral arteriovenous malformations. The vascular endothelial growth factor VEGF seems to play a crucial role in the pathogenesis of this disease. Recently bevacizumab, a humanized monoclonal VEGF inhibitor, has shown promise in treating patients with HHT.

A 66-year-old man, having HHT since the age of 30 years with recurrent epistaxis related to telangiectasia at the nasal septum and chronic iron deficiency anemia requiring frequent blood transfusions with iron infusions. The assessment of his disease showed septal perforation, telangiectasis in the proximal jejunum and terminal ileum, and pulmonary arteriovenous malformations. There was no improvement, despite iron infusions, repeated blood transfusions and cauterization. The patient was treated with bevacizumab at a dose of 5mg/kg/infusion every 2 weeks and was given 6 cycles. Bevacizumab, was effective without side effects.

It has been hypothesized that HHT is related to an imbalanced state between antiangiogenic factors and proangiogenic factors. Mutations of 3 genes are actually identified in HHT: ENG, ACVRL1, MADH4. The management of patients with HHT currently based on screening for visceral arteriovenous malformations and symptomatic measures are often disappointing. However, the angiogenic nature of this disease suggests an interesting therapy by using angiogenesis inhibitor. Therefore, bevacizumab was introduced as a potential therapy for HHT. Some clinical cases or small series report the efficacy of bevacizumab, in HHT with recurrent epistaxis, refractory iron deficiency anemia, gastrointestinal bleeding and also in liver vascular malformations with high cardiac output failure.

The use of modulators of angiogenesis such as bevacizumab is a possible therapeutic target in HHT.