Morrissey Edmond, Schmidt-Martin Daniel, Buckley Martin
Department of Gastroenterology, Mercy University Hospital, Cork, Ireland.
Department of Gastroenterology, Mallow General Hospital, Cork, Ireland.
Eur J Case Rep Intern Med. 2023 Dec 22;11(1):004219. doi: 10.12890/2023_004219. eCollection 2024.
Hereditary haemorrhagic telangiectasia (HHT) is a rare multi-organ vascular disease. It is characterised by mucocutaneous telangiectasia, epistaxis, and arteriovenous malformations. Some 70% of patients with HHT are thought to have issues with gastrointestinal (GI) bleeding. Traditional management of GI bleeding in HHT includes monitoring for iron deficiency anaemia, iron replacement, antifibrinolytic therapy and control of identifiable bleeding sites with argon photocoagulation during gastrointestinal endoscopy. Blood transfusion may also be required.
Our case describes a man in his 40s with confirmed HHT, with transfusion-dependent anaemia secondary to GI bleeding. He was commenced on fortnightly bevacizumab (5 mg/kg) for 12 weeks in an attempt to reduce his blood transfusion requirement and manage his anaemia. In the months prior to starting bevacizumab, our patient's transfusion requirement ranged from 3-5 units of packed red cells per month to maintain an Hb >8 g/dl. He had a marked improvement in his symptoms within the first month of treatment and did not require any further blood transfusion during the three months of treatment. He was given one further IV iron infusion in the final month of his 3-month bevacizumab treatment and did not experience any adverse side effects from bevacizumab.
HHT results from alterations to genes which encode proteins involved in blood vessel formation. This provides the rationale for using anti VEGF drugs such as bevacizumab. Current evidence for this treatment approach is limited.
Bevacizumab can be an effective treatment option in patients with HHT refractory to traditional management.
Gastrointestinal bleeding in hereditary haemorrhagic telangiectasia can be difficult to treat.Bevacizumab, an anti-vascular endothelial growth factor, can be used to treat refractory anaemia secondary to gastrointestinal bleeding in hereditary haemorrhagic telangiectasia.
遗传性出血性毛细血管扩张症（HHT）是一种罕见的多器官血管疾病。其特征为黏膜皮肤毛细血管扩张、鼻出血和动静脉畸形。约70%的HHT患者被认为存在胃肠道（GI）出血问题。HHT患者GI出血的传统治疗方法包括监测缺铁性贫血、补充铁剂、抗纤维蛋白溶解治疗以及在胃肠内镜检查期间用氩激光凝固法控制可识别的出血部位。可能还需要输血。
我们的病例介绍了一名40多岁确诊为HHT的男性，因GI出血导致依赖输血的贫血。他开始每两周接受一次贝伐单抗（5 mg/kg）治疗，为期12周，试图减少输血需求并治疗贫血。在开始使用贝伐单抗之前的几个月里，我们的患者每月输血需求为3 - 5单位浓缩红细胞，以维持血红蛋白>8 g/dl。治疗的第一个月内他的症状有显著改善，在治疗的三个月期间无需进一步输血。在他3个月的贝伐单抗治疗的最后一个月又接受了一次静脉铁剂输注，且未出现贝伐单抗的任何不良副作用。
HHT是由编码参与血管形成的蛋白质的基因突变引起的。这为使用抗VEGF药物如贝伐单抗提供了理论依据。目前这种治疗方法的证据有限。
对于传统治疗无效的HHT患者，贝伐单抗可能是一种有效的治疗选择。
遗传性出血性毛细血管扩张症的胃肠道出血可能难以治疗。贝伐单抗，一种抗血管内皮生长因子，可用于治疗遗传性出血性毛细血管扩张症继发于胃肠道出血的难治性贫血。
