ABSTRACT
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant condition associated with arteriovenous malformations (AVMs) or telangiectasias of the pulmonary, gastrointestinal or hepatic circulations. The authors present a case of a 52-year-old woman with a known diagnosis of HHT who presented for evaluation of anemia. She had an extensive history of iron sucrose infusions, frequent blood transfusions and hospitalizations for anemia related to gastrointestinal bleeding and epistaxis. The patient was treated with bevacizumab at a dose of 5 mg/kg infusion every 2 weeks for 4 cycles. In the next 4 months, her hemoglobin improved to 13.7 g/dL and she did not require iron or packed red blood cell transfusions for the next 8 months. Abnormal angiogenesis primarily due to mutations in the transforming growth factor ß receptor endoglin and the activin receptor-like kinases is a central contributor to the formation of AVMs in HHT. Bevacizumab is a monoclonal antibody against vascular endothelial growth factor and therefore may be a useful treatment against AVM formation in patients with HHT. The authors do caution that therapy has to be individualized as there are no randomized trials regarding its usage in patients with HHT.
