遗传性出血性毛细血管扩张症伴消化道出血:1例报道并文献复习

Hereditary hemorrhagic telangiectasia with gastrointestinal bleeding:one case report and literature review

遗传性出血性毛细血管扩张症(hereditary hemorrhagic telangiectasia,HHT)导致的胃肠道毛细血管扩张并出血,临床上缺乏有效的治疗手段。2021年最新发布的HHT第二版国际指南中指出,针对轻度HHT建议口服抗纤溶药物,对于中重度HHT相关胃肠道出血推荐静脉注射贝伐单抗或其他全身抗血管生成治疗;针对出血性病灶及1~3 mm的非出血性病灶可予以APC治疗,但建议与内镜检查同时进行,且证据质量均较低;因此,目前并无强有力的证据质量来推荐某一种药物或内镜治疗作为治疗此类患者的一线治疗手段。本文通过对1例HHT伴消化道出血患者的诊治结合近年来国内外相关文献,认为针对内镜下少量病灶,建议局部内镜治疗,但有一定的复发率;当病灶呈弥漫性分布或累及消化道多个部位时,建议药物治疗,药物治疗效果可能与HHT患者的基因特征有关。

Hereditary hemorrhagic telangiectasia(HHT)leads to gastrointestinal telangiectasia and hemorrhage,which lacks effective treatment in clinic.The latest second edition of HHT international guidelines released in 2021 pointed out that oral antifibrinolytic drugs are recommended for mild HHT,and intravenous Bevacizumab or other systemic antiangiogenic treatments are recommended for moderate to severe HHT-related gastrointestinal bleeding.Hemorrhagic lesions and non-bleeding lesions of 1-3 mm can be treated with APC,but it is recommended to be performed simultaneously with endoscopy,but the quality of the evidence is low.Therefore,there is currently no strong quality of evidence to recommend a certain drug or endoscopic treatment as the first-line treatment for such patients.Based on the diagnosis and treatment of a case of HHT with gastrointestinal bleeding,combined with the relevant domestic and foreign literature published in recent years,local endoscopic treatment was recommended by this article for small lesions under endoscopy.However,there is a certain recurrence rate.When the lesions are diffusely distributed or involve multiple parts of the digestive tract,drug therapy is recommended.The effect of drug therapy may be related to the genetic characteristics of HHT patients.