Division of Hematology and Medical Oncology, Department of Internal Medicine, Ellis Fischel Cancer Center, University of Missouri School of Medicine, Columbia, USA.
Am J Med Sci. 2012 Mar;343(3):249-51. doi: 10.1097/MAJ.0b013e3182429866.
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 β 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.
遗传性出血性毛细血管扩张症（HHT）是一种罕见的常染色体显性遗传病，与肺、胃肠道或肝脏循环的动静脉畸形（AVMs）或毛细血管扩张症有关。作者报告了一例 52 岁女性，已知患有 HHT，因贫血就诊。她有广泛的蔗糖铁输注史、频繁的输血史和因胃肠道出血和鼻出血导致贫血的住院史。该患者接受了贝伐珠单抗治疗，剂量为 5mg/kg 输注，每 2 周 1 次，共 4 个周期。在接下来的 4 个月中，她的血红蛋白水平升至 13.7g/dL，在接下来的 8 个月中无需输注铁剂或红细胞。异常血管生成主要是由于转化生长因子β受体内皮糖蛋白和激活素受体样激酶的突变，是 HHT 中 AVM 形成的主要原因。贝伐珠单抗是一种针对血管内皮生长因子的单克隆抗体，因此可能是治疗 HHT 患者 AVM 形成的有效方法。作者确实提醒，由于没有关于其在 HHT 患者中使用的随机试验，因此治疗必须个体化。
