PB0699 - Bevacizumab for refractory hereditary hemorrhagic telangiectasia

Background: Hereditary Hemorrhagic Telangiectasia(HHT) is a genetic disorder characterized by an uncontrolled multisystem angiogenesis and a variable clinical presentation. There’s many treatments that prevent life-threatening complications. More recently, bevacizumab was shown to significantly reduce severe anemia related to epistaxis and/or gastrointestinal bleeding.

Aims: To provide real world data of the management of refractory HHT.

Methods: We report the case of two siblings with refractory HHT who showed good and sustained response to bevacizumab.

Results: A 79-yo male and a 71-yo female with HHT displayed different features: he presented with spontaneous epistaxis, mucocutaneous telangiectasias and transfusion-dependent anemia (6,5g/dL); she presented with spontaneous epistaxis, hemoptysis and transfusion-dependent anemia (7,5g/dL).
An extensive study was performed which determined the presence of 1) mucocutaneous+gastrointestinal telangiectasias(brother); 2) mucocutaneous telangiectasias +pulmonary AVMs(sister).
Apart from the fact that the sister performed an embolization of one pulmonary AVM, both of them were treated similarly and with comparable responses. They did intravenous iron and transdermal estrogens with no response. They received thalidomide 50-200mg id (through patient’s tolerance), 6 cycles, with increase in hemoglobin until 11-12,6g/dL. Due to onset of peripheral neuropathy, thalidomide was discontinued. They received lenalidomide 5-15mg id (through patient’s tolerance) which was suspended 2 months later as they needed to resume blood transfusion. In 2018 they initiated intravenous bevacizumab (1mg/kg every 3-9weeks), with a significant reduction of nosebleeds/hemoptysis, hemoglobin values 11,4-14g/dL, ferritine >22ng/mL. No adverse events were observed, namely, renal function deterioration or hypertension.

Conclusion(s): Treatment options in HHT still greatly rely on individual experience and expert opinions. Given the lack of uniformity when approaching it, it would be desirable the performance of prospective cohort studies that allow the implementation of evidence-based guidelines. Until then, bevacizumab provides an important treatment option in patients with refractory HHT as it has shown a long-term good response and a favorable safety profile in these two siblings.